Dr Liz Holliday

Dr Liz Holliday

Senior Lecturer

School of Medicine and Public Health

Career Summary

Biography

Elizabeth (Liz) Holliday is a biostatistician with training in mathematics and molecular bioscience (BSc Hons I), biostatistics (MSc) and genetic statistics (PhD). She is interested in almost all areas of biostatistics and epidemiology, and their applications in health and medicine. Her particular research interests include genomics, causal inference in observational epidemiology and longitudinal data analyses. 

Liz has attracted approximately $2.5 million in nationally competitive research grants/fellowships (the majority as CIA) and produced over 100 peer-reviewed publications. She has both led and contributed to international genetic studies, resulting in discoveries published in Nature (x3), Nature Genetics (x11), Science (x2), plus a range of other quality journals. 

Research Expertise
Liz has research expertise in biostatistics, genetic epidemiology, human disease mapping, and traditional epidemiology. She has specific experience with study design, sample size calculations, generalised linear modelling, time-to-event analyses, multilevel modelling, categorical data analyses, design/analysis of randomised controlled trials, general/advanced epidemiology, genetic statistics, linked administrative data cleaning/analysis, and data simulation. She has substantial experience in the design and conduct of genome-wide association studies of complex diseases. 

Teaching Expertise
2017 onwards: Course Coordinator for BIOS6050 (Statistical Inference), BIOS6111 (Genetic Statistics and Bioinformatics), BIOS6170 (Foundations of Probability Theory), BIOS6940 (Categorical Data Analysis and Generalised Linear Models. These courses are all components of the Masters of Medical Statistics offered through UoN.

2011-2012: Course Coordinator for BIOS6910 (Biostatistics A). 

Collaborations
Liz collaborates with a variety of clinical and public health researchers locally and within Australia. She also collaborates with a variety of international genetics consortia including: the International Stroke Genetics Consortium (ISGC - analysis group Chair from 2012-2014); Cohorts for Heart and Aging Research In Genomic Epidemiology (CHARGE) consortium; Chronic Kidney Disease Genetics (CKDGen) consortium; the Genetic Investigation of ANthropometric Traits (GIANT) consortium; the Social Science Genetic Association Consortium (SSGAC). Within Australia, Liz collaborates with the Australian Stroke Genetics Consortium (ASGC), the Blue Mountains Eye Study (BMES), and researchers from the Queensland Institute of Medical Research (QIMR).


Qualifications

  • PhD, University of Queensland
  • Bachelor of Science (Honours), University of Queensland
  • Master of Science (Statistics), University of Queensland

Keywords

  • Biostatistics
  • Genetic association
  • Genetic epidemiology
  • Statistical genetics

Fields of Research

Code Description Percentage
010402 Biostatistics 70
060408 Genomics 15
060412 Quantitative Genetics (incl. Disease and Trait Mapping Genetics) 15

Professional Experience

UON Appointment

Title Organisation / Department
Senior Lecturer University of Newcastle
School of Medicine and Public Health
Australia

Academic appointment

Dates Title Organisation / Department
1/10/2010 -  NHMRC Early Career Research Fellow University of Newcastle
School of Medicine and Public Health
Australia
1/01/2010 - 1/05/2014 Fellowship University of Newcastle
School of Medicine and Public Health
Australia
1/01/2010 -  Membership - International Stroke Genetics Consortium International Stroke Genetics Consortium
Australia
1/09/2009 - 1/09/2010 Gladys M Brawn Memorial Postdoctoral Fellow University of Newcastle
School of Biomedical Sciences and Pharmacy
Australia
1/03/2007 - 1/09/2009 Research Scientist Queensland Government - Department of Health
Centre for Mental Health
Australia

Awards

Award

Year Award
2012 Star Graduate
Biostatistics Collaboration of Australia

Honours

Year Award
2002 Dean's Commendation for High Achievement in Bachelor of Science
University of Queensland

Nomination

Year Award
2012 High Flyers Think Tank
Australian Academy of Science

Research Award

Year Award
2013 Career Development Award
International Stroke Genetics Consortium
2011 Young Investigator Travel Award
Stroke Society of Australasia
2011 Peter Bladin New Investigator Award
Stroke Society of Australasia
2011 Education Prize
Hunter Medical Research Institute
2011 Best Platform (Oral) Presentation
Asia Pacific Stroke Conference
2007 Best Student Poster Presentation
Australasian GeneMappers Conference
Edit

Publications

For publications that are currently unpublished or in-press, details are shown in italics.


Chapter (5 outputs)

Year Citation Altmetrics Link
2015 Riveros C, Vimieiro R, Holliday EG, Oldmeadow C, Wang JJ, Mitchell P, et al., 'Identification of genome-wide SNP-SNP and SNP-clinical Boolean interactions in Age-related Macular Degeneration', Epistasis: Methods and Protocols, Springer, New York 217-255 (2015) [B1]
DOI 10.1007/978-1-4939-2155-3_12
Citations Scopus - 1
Co-authors Carlos Riveros, Rodney Scott, Pablo Moscato, Christopher Oldmeadow, John Attia
2014 Holliday EG, 'Sampling Error', Encyclopedia of Quality of Life and Well-Being Research, Springer, Dordrecht, Netherlands 5643-5645 (2014) [D2]
DOI 10.1007/978-94-007-0753-5_2554
2014 Attia JR, Holliday EG, Ioannidis JPA, Thakkinstian A, McEvoy M, Scott RJ, et al., 'How to use an article about genetic association', Users' Guides to the Medical Literature: Essentials of Evidence-Based Clinical Practice 3e, McGraw Hill Professional, USA (2014)
Co-authors Rodney Scott, John Attia
2014 Holliday EG, 'Statistical Inference', Encyclopedia of Quality of Life and Well-Being Research, Springer, Dordrecht, Netherlands 3258-3262 (2014) [D2]
2013 Holliday EG, Oldmeadow CJ, Maguire JM, Attia JR, 'Candidate gene association studies in stroke', Stroke Genetics, Springer Verlag, London 9-23 (2013) [B1]
Citations Scopus - 1
Co-authors Jane Maguire, Christopher Oldmeadow, John Attia
Show 2 more chapters

Journal article (119 outputs)

Year Citation Altmetrics Link
2017 de Vries PS, Sabater-Lleal M, Chasman DI, Trompet S, Ahluwalia TS, Teumer A, et al., 'Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study.', PLoS One, 12 e0167742 (2017)
DOI 10.1371/journal.pone.0167742
Co-authors Mark Mcevoy, Christopher Oldmeadow, John Attia, Rodney Scott
2017 Holliday SM, Hayes C, Dunlop AJ, Morgan S, Tapley A, Henderson KM, et al., 'Does brief chronic pain management education change opioid prescribing rates? A pragmatic trial in Australian early-career general practitioners.', Pain, 158 278-288 (2017)
DOI 10.1097/j.pain.0000000000000755
Co-authors Parker Magin, A Dunlop
2017 Joachim N, Colijn JM, Kifley A, Lee KE, Buitendijk GHS, Klein BEK, et al., 'Five-year progression of unilateral age-related macular degeneration to bilateral involvement: the Three Continent AMD Consortium report.', Br J Ophthalmol, (2017)
DOI 10.1136/bjophthalmol-2016-309729
Co-authors John Attia
2017 Schmidt AF, Swerdlow DI, Holmes MV, Patel RS, Fairhurst-Hunter Z, Lyall DM, et al., 'PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study', The Lancet Diabetes and Endocrinology, 5 97-105 (2017)

© 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY licenseBackground Statin treatment and variants in the gene encoding HMG-CoA reduc... [more]

© 2017 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY licenseBackground Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk. Methods In this mendelian randomisation study, we used data from cohort studies, randomised controlled trials, case control studies, and genetic consortia to estimate associations of PCSK9 genetic variants with LDL cholesterol, fasting blood glucose, HbA1c, fasting insulin, bodyweight, waist-to-hip ratio, BMI, and risk of type 2 diabetes, using a standardised analysis plan, meta-analyses, and weighted gene-centric scores. Findings Data were available for more than 550¿000 individuals and 51¿623 cases of type 2 diabetes. Combined analyses of four independent PCSK9 variants (rs11583680, rs11591147, rs2479409, and rs11206510) scaled to 1 mmol/L lower LDL cholesterol showed associations with increased fasting glucose (0·09 mmol/L, 95% CI 0·02 to 0·15), bodyweight (1·03 kg, 0·24 to 1·82), waist-to-hip ratio (0·006, 0·003 to 0·010), and an odds ratio for type diabetes of 1·29 (1·11 to 1·50). Based on the collected data, we did not identify associations with HbA1c (0·03%, -0·01 to 0·08), fasting insulin (0·00%, -0·06 to 0·07), and BMI (0·11 kg/m2, -0·09 to 0·30). Interpretation PCSK9 variants associated with lower LDL cholesterol were also associated with circulating higher fasting glucose concentration, bodyweight, and waist-to-hip ratio, and an increased risk of type 2 diabetes. In trials of PCSK9 inhibitor drugs, investigators should carefully assess these safety outcomes and quantify the risks and benefits of PCSK9 inhibitor treatment, as was previously done for statins. Funding British Heart Foundation, and University College London Hospitals NHS Foundation Trust (UCLH) National Institute for Health Research (NIHR) Biomedical Research Centre.

DOI 10.1016/S2213-8587(16)30396-5
Co-authors John Attia
2017 Malik R, Dau T, Gonik M, Sivakumar A, Deredge DJ, Edeleva EV, et al., 'Common coding variant in SERPINA1 increases the risk for large artery stroke.', Proc Natl Acad Sci U S A, (2017)
DOI 10.1073/pnas.1616301114
Co-authors John Attia, Lisa Lincz
2017 Thomson D, Cowan T, Loten C, Botfield C, Holliday E, Attia J, 'High-flow oxygen in patients undergoing procedural sedation in the emergency department: A retrospective chart review', EMA - Emergency Medicine Australasia, 29 33-39 (2017)

© 2016 Australasian College for Emergency Medicine and Australasian Society for Emergency MedicineObjective: Hypoxia is a recognised complication of procedural sedation. This stu... [more]

© 2016 Australasian College for Emergency Medicine and Australasian Society for Emergency MedicineObjective: Hypoxia is a recognised complication of procedural sedation. This study sought to determine whether there was an association between the use of high-flow oxygen delivery by a non-rebreather (NRB) mask during ED procedural sedation and decreased rates of hypoxia when compared with alternative oxygenation methods. Methods: Records of all procedural sedations performed over a 12 month period in an Australian tertiary ED were reviewed retrospectively. The primary outcome was whether recorded oxygen saturations fell below 90%. Specifics of the oxygen delivery method were noted and data collected included sex, age, indication for sedation, drugs and doses administered, time of day sedation was commenced and staff grade of sedationist. Results: A total of 755 procedural sedations were reviewed. Two hundred and five (27.1%) patients were administered oxygen via NRB mask from the outset of their sedation. NRB administration was associated with a statistically significant decreased rate of hypoxia (1/205 patients vs 23/550 [odds ratio: 0.112; 95% confidence interval: 0.003¿0.0702]; P = 0.0090). This association remained statistically significant when adjusted for confounders. Conclusions: This study demonstrates an association with a statistically significant reduction in hypoxia when high-flow oxygen via NRB mask is administered during emergency procedural sedation. This intervention is simple, safe and inexpensive, and we would advocate that it be evaluated further in prospective trials.

DOI 10.1111/1742-6723.12687
Co-authors John Attia
2017 Daneshi N, Holliday E, Hancock S, Schneider JJ, Scott RJ, Attia J, Milward EA, 'Prevalence of clinically actionable genotypes and medication exposure of older adults in the community', PHARMACOGENOMICS & PERSONALIZED MEDICINE, 10 17-27 (2017)
DOI 10.2147/PGPM.S123719
Co-authors John Attia, Rodney Scott, Jennifer Schneider, Liz Milward
2017 Thomas LC, Hall LA, Attia JR, Holliday EG, Markus HS, Levi CR, 'Seasonal Variation in Spontaneous Cervical Artery Dissection: Comparing between UK and Australian Sites', Journal of Stroke and Cerebrovascular Diseases, 26 177-185 (2017)

© 2017 National Stroke AssociationBackground Cervical artery dissection (CAD) is a leading cause of stroke among middle-aged adults, but the etiology is unclear. Some reports of ... [more]

© 2017 National Stroke AssociationBackground Cervical artery dissection (CAD) is a leading cause of stroke among middle-aged adults, but the etiology is unclear. Some reports of seasonal variation in CAD incidence have been suggested but may reflect extreme climatic conditions. Seasonal variation may implicate more transient seasonal causes such as proinflammatory or hypercoagulable states. This study aimed to assess whether CAD incidence varied with season between UK and Australian sites. Also, this study aimed to determine whether there was a different pattern of seasonal variation between arteries (carotid and vertebral) and any association between CAD incidence and clinical factors. Methods This was a retrospective observational study of patients older than 18 years with radiological diagnosis of internal carotid or vertebral arterial dissection, from sites in Australia and the UK. Clinical variables were compared between autumn-winter and spring-summer and site of dissection. Results A total of 133 CAD cases were documented in Australia and 242 in the UK. There was a seasonal pattern to CAD incidence in countries in both the northern and the southern hemispheres, with a trend for dissection to occur more commonly in autumn, winter, and spring than in summer (incidence rate ratios [IRR] 1.4-1.5, P¿<¿.05). CAD counts were also slightly higher in internal carotid than in vertebral artery (IRRs 1.168, 1.43, and 1.127, respectively). Neither systolic blood pressure nor pulse pressure was significantly associated with CAD counts. Conclusions CAD occurs more commonly in cooler months regardless of geographical location, suggesting transient seasonal causes may be important in the pathophysiology. This effect was slightly higher in internal carotid than in vertebral artery, suggesting differing trigger mechanisms between dissection sites.

DOI 10.1016/j.jstrokecerebrovasdis.2016.09.006
Co-authors Lucy Thomas, Christopher Levi, John Attia
2017 Magin P, Catzikiris N, Tapley A, Morgan S, Holliday EG, Ball J, et al., 'Home visits and nursing home visits by early-career GPs: a cross-sectional study.', Fam Pract, 34 77-82 (2017)
DOI 10.1093/fampra/cmw099
Co-authors Parker Magin
2016 Rosand J, Mitchell BD, Ay H, de Bakker PIW, Gwinn K, Kittner SJ, et al., 'Loci associated with ischaemic stroke and its subtypes (SiGN): A genome-wide association study', The Lancet Neurology, 15 174-184 (2016)

© 2016 Elsevier Ltd.Background: The discovery of disease-associated loci through genome-wide association studies (GWAS) is the leading genetic approach to the identification of n... [more]

© 2016 Elsevier Ltd.Background: The discovery of disease-associated loci through genome-wide association studies (GWAS) is the leading genetic approach to the identification of novel biological pathways underlying diseases in humans. Until recently, GWAS in ischaemic stroke have been limited by small sample sizes and have yielded few loci associated with ischaemic stroke. We did a large-scale GWAS to identify additional susceptibility genes for stroke and its subtypes. Methods: To identify genetic loci associated with ischaemic stroke, we did a two-stage GWAS. In the first stage, we included 16 851 cases with state-of-the-art phenotyping data and 32 473 stroke-free controls. Cases were aged 16 to 104 years, recruited between 1989 and 2012, and subtypes of ischaemic stroke were recorded by centrally trained and certified investigators who used the web-based protocol, Causative Classification of Stroke (CCS). We constructed case-control strata by identifying samples that were genotyped on nearly identical arrays and were of similar genetic ancestral background. We cleaned and imputed data by use of dense imputation reference panels generated from whole-genome sequence data. We did genome-wide testing to identify stroke-associated loci within each stratum for each available phenotype, and we combined summary-level results using inverse variance-weighted fixed-effects meta-analysis. In the second stage, we did in-silico lookups of 1372 single nucleotide polymorphisms identified from the first stage GWAS in 20 941 cases and 364 736 unique stroke-free controls. The ischaemic stroke subtypes of these cases had previously been established with the Trial of Org 10 172 in Acute Stroke Treatment (TOAST) classification system, in accordance with local standards. Results from the two stages were then jointly analysed in a final meta-analysis. Findings: We identified a novel locus (G allele at rs12122341) at 1p13.2 near TSPAN2 that was associated with large artery atherosclerosis-related stroke (first stage odds ratio [OR] 1·21, 95% CI 1·13-1·30, p=4·50 × 10-8; joint OR 1·19, 1·12-1·26, p=1·30 × 10-9). Our results also supported robust associations with ischaemic stroke for four other loci that have been reported in previous studies, including PITX2 (first stage OR 1·39, 1·29-1·49, p=3·26 × 10-19; joint OR 1·37, 1·30-1·45, p=2·79 × 10-32) and ZFHX3 (first stage OR 1·19, 1·11-1·27, p=2·93 × 10-7; joint OR 1·17, 1·11-1·23, p=2·29 × 10-10) for cardioembolic stroke, and HDAC9 (first stage OR 1·29, 1·18-1·42, p=3·50 × 10-8; joint OR 1·24, 1·15-1·33, p=4·52 × 10-9) for large artery atherosclerosis stroke. The 12q24 locus near ALDH2, which has previously been associated with all ischaemic stroke but not with any specific subtype, exceeded genome-wide significance in the meta-analysis of small artery stroke (first stage OR 1·20, 1·12-1·28, p=6·82 × 10-8; joint OR 1·17, 1·11-1·23, p=2·92 × 10-9). Other loci associated with stroke in previous studies, including NINJ2, were not confirmed. Interpretation: Our results suggest that all ischaemic stroke-related loci previously implicated by GWAS are subtype specific. We identified a novel gene associated with large artery atherosclerosis stroke susceptibility. Follow-up studies will be necessary to establish whether the locus near TSPAN2 can be a target for a novel therapeutic approach to stroke prevention. In view of the subtype-specificity of the associations detected, the rich phenotyping data available in the Stroke Genetics Network (SiGN) are likely to be crucial for further genetic discoveries related to ischaemic stroke. Funding: US National Institute of Neurological Disorders and Stroke, National Institutes of Health.

DOI 10.1016/S1474-4422(15)00338-5
Citations Scopus - 8
Co-authors Jane Maguire, Christopher Levi, John Attia
2016 Okbay A, Baselmans BML, De Neve J-E, Turley P, Nivard MG, Fontana MA, et al., 'Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.', Nat Genet, 48 624-633 (2016) [C1]
DOI 10.1038/ng.3552
Citations Scopus - 24Web of Science - 23
Co-authors Christopher Oldmeadow, Rodney Scott, John Attia
2016 Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, et al., 'Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.', Nat Commun, 7 10023 (2016)
DOI 10.1038/ncomms10023
Citations Scopus - 14Web of Science - 17
Co-authors Mark Mcevoy, John Attia, Rodney Scott
2016 De Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, et al., 'A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration', Human Molecular Genetics, 25 358-370 (2016) [C1]

© The Author 2015. Published by Oxford University Press.Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentr... [more]

© The Author 2015. Published by Oxford University Press.Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels.We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including ~120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indelswere examined.We identified 41 genome-wide significant fibrinogen loci; of which, 18were newly identified. Therewere no genome-wide significant signals on the X-chromosome. The lead variants of five significant loci were indels. We further identified six additional independent signals, including three rare variants, at two previously characterized loci: FGB and IRF1. Together the 41 loci explain 3% of the variance in plasma fibrinogen concentration.

DOI 10.1093/hmg/ddv454
Citations Scopus - 4Web of Science - 2
Co-authors Mark Mcevoy, Rodney Scott, Christopher Oldmeadow, John Attia
2016 Sridharan S, Steigler A, Spry NA, Joseph D, Lamb DS, Matthews JH, et al., 'Oligometastatic bone disease in prostate cancer patients treated on the TROG 03.04 RADAR trial.', Radiother Oncol, 121 98-102 (2016)
DOI 10.1016/j.radonc.2016.07.021
Citations Scopus - 2
Co-authors John Attia, Jim Denham, Allison Steigler
2016 Painter JN, O'Mara TA, Marquart L, Webb PM, Attia J, Medland SE, et al., 'Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer.', Cancer Epidemiol Biomarkers Prev, 25 1503-1510 (2016) [C1]
DOI 10.1158/1055-9965.EPI-16-0147
Co-authors Katie Ashton, Rodney Scott, Mark Mcevoy, John Attia
2016 Cheng THT, Thompson DJ, O'Mara TA, Painter JN, Glubb DM, Flach S, et al., 'Five endometrial cancer risk loci identified through genome-wide association analysis.', Nat Genet, 48 667-674 (2016) [C1]
DOI 10.1038/ng.3562
Citations Scopus - 3Web of Science - 2
Co-authors Katie Ashton, Rodney Scott, John Attia, Mark Mcevoy
2016 Tan AG, Kifley A, Mitchell P, Rochtchina E, Flood VM, Cumming RG, et al., 'Associations Between Methylenetetrahydrofolate Reductase Polymorphisms, Serum Homocysteine Levels, and Incident Cortical Cataract.', JAMA Ophthalmol, (2016)
DOI 10.1001/jamaophthalmol.2016.0167
Citations Scopus - 1
Co-authors Rodney Scott
2016 Magin PJ, Morgan S, Tapley A, Henderson KM, Holliday EG, Ball J, et al., 'Changes in early-career family physicians' antibiotic prescribing for upper respiratory tract infection and acute bronchitis: A multicentre longitudinal study', Family Practice, 33 360-367 (2016) [C1]

© The Author 2016. Published by Oxford University Press. All rights reserved.Background. Inappropriate antibiotic prescription and subsequent antibacterial resistance are major t... [more]

© The Author 2016. Published by Oxford University Press. All rights reserved.Background. Inappropriate antibiotic prescription and subsequent antibacterial resistance are major threats to health worldwide. Objectives. We aimed to establish whether early-career 'apprenticeship-model' experience in family practice influences antibiotic prescribing for respiratory tract infections and to also establish other associations of antibiotic prescribing changes during this early-career experience. Methods. A longitudinal analysis (2010-2014) of a cohort study of Australian GP registrars' (vocational trainees') consultations. Registrars from five regional training programs recorded data from 60 consecutive consultations, once each 6-month training Term, including the diagnoses managed and medications prescribed. The outcomes were whether an antibiotic was prescribed for the diagnoses 'upper respiratory tract infection (URTI)' and 'acute bronchitis/bronchiolitis'. Generalized linear mixed modelling was used to account for repeated measures on registrars and to include the time component: 'Term'. Results. A total of 856 registrars recorded 108759 consultations, including 8715 'URTI' diagnoses (5.15% of diagnoses) and 2110 'acute bronchitis/bronchiolitis' diagnoses (1.25%). Antibiotics were prescribed in 16.3% [95% confidence interval (CI) 14.9-17.8] of URTI and 72.2% (95% CI 69.6-74.6) of acute bronchitis/bronchiolitis diagnoses. Moving from an earlier to later term did not significantly influence registrars' antibiotic prescribing for URTI [adjusted odds ratio (OR) 0.95; 95% CI 0.87, 1.04, P = 0.27] or acute bronchitis/bronchiolitis [OR 1.01 (95% CI 0.90-1.14), P = 0.86]. Significant associations of antibiotic prescribing for URTIs were the registrar being non-Australian educated, greater patient age, practices not privately billing patients, pathology being ordered, longer consultation duration and the registrar seeking in-consultation information or advice (including from their supervisor). Conclusions. Early-career experience/training failed to produce rational antibiotic prescribing for URTI and acute bronchitis/bronchiolitis. Our findings suggest that prescribing interventions could target the registrar-supervisor dyad.

DOI 10.1093/fampra/cmw025
Co-authors Josh Davis, Parker Magin
2016 Chen MM, O'Mara TA, Thompson DJ, Painter JN, Australian National Endometrial Cancer Study Group (ANECS), Attia J, et al., 'GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.', Hum Mol Genet, 25 2612-2620 (2016)
DOI 10.1093/hmg/ddw092
Co-authors John Attia, Rodney Scott, Mark Mcevoy
2016 Traylor M, Adib-Samii P, Harold D, Dichgans M, Williams J, Lewis CM, et al., 'Shared genetic contribution to ischemic stroke and Alzheimer's disease', Annals of Neurology, 79 739-747 (2016)

© 2016 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.Objective Increasing evidence suggests epidemiological... [more]

© 2016 The Authors. Annals of Neurology published by Wiley Periodicals, Inc. on behalf of American Neurological Association.Objective Increasing evidence suggests epidemiological and pathological links between Alzheimer's disease (AD) and ischemic stroke (IS). We investigated the evidence that shared genetic factors underpin the two diseases. Methods Using genome-wide association study (GWAS) data from METASTROKE + (15,916 IS cases and 68,826 controls) and the International Genomics of Alzheimer's Project (IGAP; 17,008 AD cases and 37,154 controls), we evaluated known associations with AD and IS. On the subset of data for which we could obtain compatible genotype-level data (4,610 IS cases, 1,281 AD cases, and 14,320 controls), we estimated the genome-wide genetic correlation (rG) between AD and IS, and the three subtypes (cardioembolic, small vessel, and large vessel), using genome-wide single-nucleotide polymorphism (SNP) data. We then performed a meta-analysis and pathway analysis in the combined AD and small vessel stroke data sets to identify the SNPs and molecular pathways through which disease risk may be conferred. Results We found evidence of a shared genetic contribution between AD and small vessel stroke (rG [standard error] = 0.37 [0.17]; p = 0.011). Conversely, there was no evidence to support shared genetic factors in AD and IS overall or with the other stroke subtypes. Of the known GWAS associations with IS or AD, none reached significance for association with the other trait (or stroke subtypes). A meta-analysis of AD IGAP and METASTROKE + small vessel stroke GWAS data highlighted a region (ATP5H/KCTD2/ICT1) associated with both diseases (p = 1.8 × 10-8). A pathway analysis identified four associated pathways involving cholesterol transport and immune response. Interpretation Our findings indicate shared genetic susceptibility to AD and small vessel stroke and highlight potential causal pathways and loci. Ann Neurol 2016;79:739-747

DOI 10.1002/ana.24621
Citations Scopus - 3
Co-authors Christopher Levi
2016 Malik R, Traylor M, Pulit SL, Bevan S, Hopewell JC, Holliday EG, et al., 'Low-frequency and common genetic variation in ischemic stroke The METASTROKE collaboration', NEUROLOGY, 86 1217-1226 (2016) [C1]
DOI 10.1212/WNL.0000000000002528
Citations Scopus - 4Web of Science - 5
Co-authors Christopher Levi, John Attia
2016 Bolton KA, Avery-Kiejda KA, Holliday EG, Attia J, Bowden NA, Scott RJ, 'A polymorphic repeat in the IGF1 promoter influences the risk of endometrial cancer', ENDOCRINE CONNECTIONS, 5 115-122 (2016) [C1]
DOI 10.1530/EC-16-0003
Citations Web of Science - 1
Co-authors Nikola Bowden, John Attia, Rodney Scott, Kelly Kiejda
2016 Traylor M, Rutten-Jacobs LCA, Thijs V, Holliday EG, Levi C, Bevan S, et al., 'Genetic Associations With White Matter Hyperintensities Confer Risk of Lacunar Stroke', Stroke, 47 1174-1179 (2016) [C1]

© 2016 American Heart Association, Inc.Background and Purpose - White matter hyperintensities (WMH) are increased in patients with lacunar stroke. Whether this is because of shar... [more]

© 2016 American Heart Association, Inc.Background and Purpose - White matter hyperintensities (WMH) are increased in patients with lacunar stroke. Whether this is because of shared pathogenesis remains unknown. Using genetic data, we evaluated whether WMH-associated genetic susceptibility factors confer risk of lacunar stroke, and therefore whether they share pathogenesis. Methods - We used a genetic risk score approach to test whether single nucleotide polymorphisms associated with WMH in community populations were associated with magnetic resonance imaging-confirmed lacunar stroke (n=1,373), as well as cardioembolic (n=1,331) and large vessel (n=1,472) Trial of Org 10172 in Acute Stroke Treatment subtypes, against 9,053 controls. Second, we separated lacunar strokes into those with WMH (n=568) and those without (n=787) and tested for association with the risk score in these 2 groups. In addition, we evaluated whether WMH-associated single nucleotide polymorphisms are associated with lacunar stroke, or in the 2 groups. Results - The WMH genetic risk score was associated with lacunar stroke (odds ratio [OR; 95% confidence interval [CI]]=1.14 [1.06-1.22]; P=0.0003), in patients both with and without WMH (WMH: OR [95% CI]=1.15 [1.05-1.26]; P=0.003 and no WMH: OR [95% CI]=1.11 [1.02-1.21]; P=0.019). Conversely, the risk score was not associated with cardioembolic stroke (OR [95% CI]=1.03 [0.97-1.09]; P=0.63) or large vessel stroke (OR [95% CI]=0.99 [0.93,1.04]; P=0.39). However, none of the WMH-associated single nucleotide polymorphisms passed Bonferroni-corrected significance for association with lacunar stroke. Conclusions - Genetic variants that influence WMH are associated with an increased risk of lacunar stroke but not cardioembolic or large vessel stroke. Some genetic susceptibility factors seem to be shared across different radiological manifestations of small vessel disease.

DOI 10.1161/STROKEAHA.115.011625
Citations Web of Science - 1
Co-authors Christopher Levi
2016 Hullick C, Conway J, Higgins I, Hewitt J, Dilworth S, Holliday E, Attia J, 'Emergency department transfers and hospital admissions from residential aged care facilities: a controlled pre-post design study.', BMC geriatrics, 16 102 (2016) [C1]
Citations Web of Science - 1
Co-authors Isabel Higgins, John Attia
2016 Barban N, Jansen R, de Vlaming R, Vaez A, Mandemakers JJ, Tropf FC, et al., 'Genome-wide analysis identifies 12 loci influencing human reproductive behavior.', Nat Genet, 48 1462-1472 (2016)
DOI 10.1038/ng.3698
Citations Scopus - 2
2016 Thompson DJ, O'Mara TA, Glubb DM, Painter JN, Cheng T, Folkerd E, et al., 'CYP19A1 fine-mapping and Mendelian randomization: Estradiol is causal for endometrial cancer', Endocrine-Related Cancer, 23 77-91 (2016) [C1]

© 2016 The authors.Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancerandwith estradiol (E2) concentrations.We analyzed2937singlenucleo... [more]

© 2016 The authors.Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancerandwith estradiol (E2) concentrations.We analyzed2937singlenucleotidepolymorphisms (SNPs) in 6608 endometrial cancer cases and 37 925 controls and report the first genome widesignificant association between endometrial cancer and a CYP19A1 SNP (rs727479 in intron 2, P=4.8×10-11). SNP rs727479 was also among those most strongly associated with circulating E2 concentrations in 2767 post-menopausal controls (P=7.4×10-8). The observed endometrial cancer odds ratio per rs727479 A-allele (1.15, CI=1.11-1.21) is compatible with that predicted by theobservedeffectonE2 concentrations (1.09, CI=1.03-1.21), consistentwith the hypothesis that endometrial cancer risk is driven by E2. From 28 candidate-causal SNPs, 12 co-located with three putative gene-regulatory elements and their risk alleles associated with higher CYP19A1 expression in bioinformatical analyses. For both phenotypes, the associationswith rs727479 were stronger amongwomen with a higher BMI (PinteractionZ0.034 and 0.066 respectively), suggesting a biologically plausible gene-environment interaction.

DOI 10.1530/ERC-15-0386
Citations Scopus - 4Web of Science - 4
Co-authors Mark Mcevoy, John Attia, Rodney Scott, Katie Ashton
2016 Magin P, Stewart R, Turnock A, Tapley A, Holliday E, Cooling N, 'Early predictors of need for remediation in the Australian general practice training program: a retrospective cohort study', Advances in Health Sciences Education, 1-15 (2016)

© 2016 Springer Science+Business Media DordrechtUnderperforming trainees requiring remediation may threaten patient safety and are challenging for vocational training programs. D... [more]

© 2016 Springer Science+Business Media DordrechtUnderperforming trainees requiring remediation may threaten patient safety and are challenging for vocational training programs. Decisions to institute remediation are high-stakes¿remediation being resource-intensive and emotionally demanding on trainees. Detection of underperformance requiring remediation is particularly problematic in general (family) practice. We sought to establish early-training assessment instruments predictive of general practice (GP) trainees¿ subsequently requiring formal remediation. We conducted a retrospective cohort study of trainees from a large Australian regionally-based GP training organization. The outcome factor was requirement for formal remediation. Independent variables were demographic factors and a range of formative assessments conducted immediately prior to or during early-stage training. Analyses employed univariate and multivariate logistic regression of each predictor assessment modality with the outcome, adjusting for potential confounders. Of 248 trainees, 26 (10.5 %) required formal remediation. Performance on the Colleague Feedback Evaluation Tool (entailing feedback from a trainee¿s clinical colleagues on clinical performance, communication and probity) and External Clinical Teaching Visits (half-day sessions of the trainee¿s clinical consultations observed directly by an experienced GP), along with non-Australian primary medical qualification, were significantly associated with requiring remediation. There was a non-significant trend for association with performance on the Doctors Interpersonal Skills Questionnaire (patient feedback on interpersonal elements of the consultation). There were no significant associations with entry-selection scores or formative exam or assessment scores. Our finding that ¿in vivo¿ assessments of complex behaviour, but not ¿in vitro¿ knowledge-based assessments, predict need for remediation is consistent with theoretical understanding of the nature of remediation decision-making and should inform remediation practice in GP vocational training.

DOI 10.1007/s10459-016-9722-5
Co-authors Parker Magin
2016 Ibrahim-Verbaas CA, Bressler J, Debette S, Schuur M, Smith AV, Bis JC, et al., 'GWAS for executive function and processing speed suggests involvement of the CADM2 gene', Molecular Psychiatry, 21 189-197 (2016) [C1]

© 2016 Macmillan Publishers Limited All rights reserved.To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducte... [more]

© 2016 Macmillan Publishers Limited All rights reserved.To identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide association study (GWAS) of executive functioning and information processing speed in non-demented older adults from the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium. Neuropsychological testing was available for 5429-32 070 subjects of European ancestry aged 45 years or older, free of dementia and clinical stroke at the time of cognitive testing from 20 cohorts in the discovery phase. We analyzed performance on the Trail Making Test parts A and B, the Letter Digit Substitution Test (LDST), the Digit Symbol Substitution Task (DSST), semantic and phonemic fluency tests, and the Stroop Color and Word Test. Replication was sought in 1311-21860 subjects from 20 independent cohorts. A significant association was observed in the discovery cohorts for the single-nucleotide polymorphism (SNP) rs17518584 (discovery P-value=3.12 × 10 -8) and in the joint discovery and replication meta-analysis (P-value=3.28 × 10 -9 after adjustment for age, gender and education) in an intron of the gene cell adhesion molecule 2 (CADM2) for performance on the LDST/DSST. Rs17518584 is located about 170 kb upstream of the transcription start site of the major transcript for the CADM2 gene, but is within an intron of a variant transcript that includes an alternative first exon. The variant is associated with expression of CADM2 in the cingulate cortex (P-value=4 × 10 -4). The protein encoded by CADM2 is involved in glutamate signaling (P-value=7.22 × 10 -15), gamma-aminobutyric acid (GABA) transport (P-value=1.36 × 10 -11) and neuron cell-cell adhesion (P-value=1.48 × 10 -13). Our findings suggest that genetic variation in the CADM2 gene is associated with individual differences in information processing speed.

DOI 10.1038/mp.2015.37
Citations Scopus - 6Web of Science - 3
Co-authors John Attia, Peter Schofield, Christopher Oldmeadow, Rodney Scott
2016 Bolton KA, Holliday EG, Attia J, Bowden NA, Avery-Kiejda KA, Scott RJ, 'A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer', BMC Research Notes, 9 (2016)

© 2016 The Author(s).Background: The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a... [more]

© 2016 The Author(s).Background: The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a genome-wide search for tandem repeats, we found that EIG121 contains a short tandem repeat (STR) in its upstream regulatory region which has the potential to alter gene expression. The presence of this STR has not previously been analysed in relation to breast or endometrial cancer risk. Results: In this study, the lengths of this STR were determined by PCR, fragment analysis and sequencing using DNA from 223 breast cancer patients, 204 endometrial cancer patients and 220 healthy controls to determine if they were associated with the risk of developing breast or endometrial cancer. We found this repeat to be highly variable with the number of copies of the AG motif ranging from 27 to 72 and having a bimodal distribution. No statistically significant association was identified between the length of this STR and the risk of developing breast or endometrial cancer or age at diagnosis. Conclusions: The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here. While this polymorphic STR in the regulatory region of EIG121 appears to have no impact on the risk of developing breast or endometrial cancer, its association with disease recurrence or overall survival remains to be determined.

DOI 10.1186/s13104-016-2086-3
Citations Scopus - 1
Co-authors Kelly Kiejda, Nikola Bowden, Rodney Scott, John Attia
2016 Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, et al., 'Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2', Stroke, 47 307-316 (2016) [C1]

© 2016 American Heart Association, Inc.Background and Purpose - Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been ide... [more]

© 2016 American Heart Association, Inc.Background and Purpose - Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been identified by large-scale genetic association studies to date. Hypothesizing that genetic effects might be stronger for early-versus late-onset stroke, we conducted a 2-stage meta-analysis of genome-wide association studies, focusing on stroke cases with an age of onset < 60 years. Methods. The discovery stage of our genome-wide association studies included 4505 cases and 21968 controls of European, South-Asian, and African ancestry, drawn from 6 studies. In Stage 2, we selected the lead genetic variants at loci with association P<5×10-6 and performed in silico association analyses in an independent sample of =1003 cases and 7745 controls. Results.One stroke susceptibility locus at 10q25 reached genome-wide significance in the combined analysis of all samples from the discovery and follow-up stages (rs11196288; odds ratio =1.41; P=9.5×10-9). The associated locus is in an intergenic region between TCF7L2 and HABP2. In a further analysis in an independent sample, we found that 2 single nucleotide polymorphisms in high linkage disequilibrium with rs11196288 were significantly associated with total plasma factor VII.activating protease levels, a product of HABP2. Conclusions.HABP2, which encodes an extracellular serine protease involved in coagulation, fibrinolysis, and inflammatory pathways, may be a genetic susceptibility locus for early-onset stroke.

DOI 10.1161/STROKEAHA.115.011328
Citations Scopus - 2Web of Science - 2
Co-authors Christopher Levi
2016 Bonney A, Morgan S, Tapley A, Henderson K, Holliday E, Davey A, et al., 'Older patients' consultations in an apprenticeship model-based general practice training program: A cross-sectional study.', Australas J Ageing, (2016)
DOI 10.1111/ajag.12364
Co-authors Parker Magin
2016 Minelli C, Dean CH, Hind M, Alves AC, Amaral AFS, Siroux V, et al., 'Association of Forced Vital Capacity with the Developmental Gene NCOR2', PLoS ONE, 11 (2016)

© 2016 Minelli et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and re... [more]

© 2016 Minelli et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Background Forced Vital Capacity (FVC) is an important predictor of all-cause mortality in the absence of chronic respiratory conditions. Epidemiological evidence highlights the role of early life factors on adult FVC, pointing to environmental exposures and genes affecting lung development as risk factors for low FVC later in life. Although highly heritable, a small number of genes have been found associated with FVC, and we aimed at identifying further genetic variants by focusing on lung development genes. Methods Per-allele effects of 24,728 SNPs in 403 genes involved in lung development were tested in 7,749 adults from three studies (NFBC1966, ECRHS, EGEA). The most significant SNP for the top 25 genes was followed-up in 46,103 adults (CHARGE and SpiroMeta consortia) and 5,062 children (ALSPAC). Associations were considered replicated if the replication p-value survived Bonferroni correction (p<0.002; 0.05/25), with a nominal p-value considered as suggestive evidence. For SNPs with evidence of replication, effects on the expression levels of nearby genes in lung tissue were tested in 1,111 lung samples (Lung eQTL consortium), with further functional investigation performed using public epigenomic profiling data (ENCODE). Results NCOR2-rs12708369 showed strong replication in children (p = 0.0002), with replication unavailable in adults due to low imputation quality. This intronic variant is in a strong transcriptional enhancer element in lung fibroblasts, but its eQTL effects could not be tested due to low imputation quality in the eQTL dataset. SERPINE2-rs6754561 replicated at nominal level in both adults (p = 0.036) and children (p = 0.045), while WNT16-rs2707469 replicated at nominal level only in adults (p = 0.026). The eQTL analyses showed association of WNT16-rs2707469 with expression levels of the nearby gene CPED1.We found no statistically significant eQTL effects for SERPINE2-rs6754561. Conclusions We have identified a new gene, NCOR2, in the retinoic acid signalling pathway pointing to a role of Vitamin A metabolism in the regulation of FVC. Our findings also support SERPINE2, a COPD gene with weak previous evidence of association with FVC, and suggest WNT16 as a further promising candidate.

DOI 10.1371/journal.pone.0147388
Citations Scopus - 1
Co-authors John Attia, Christopher Oldmeadow, Rodney Scott
2016 Mather KA, Thalamuthu A, Oldmeadow C, Song F, Armstrong NJ, Poljak A, et al., 'Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults', Scientific Reports, 6 (2016) [C1]

Apolipoprotein H (ApoH) is a multi-functional plasma glycoprotein that has been associated with negative health outcomes. ApoH levels have high heritability. We undertook a genome... [more]

Apolipoprotein H (ApoH) is a multi-functional plasma glycoprotein that has been associated with negative health outcomes. ApoH levels have high heritability. We undertook a genome-wide association study of ApoH levels using the largest sample to date and replicated the results in an independent cohort (total N = 1,255). In the discovery phase, a meta-analysis of two cohorts, the Sydney Memory and Ageing Study (Sydney MAS) and the Older Australian Twins Study (OATS) (n = 942) revealed genome-wide significant results in or near the APOH gene on chromosome 17 (top SNP, rs7211380, p = 1 × 10-11). The results were replicated in an independent cohort, the Hunter Community Study (p < 0.002) (n = 313). Conditional and joint analysis (COJO) confirmed the association of the chromosomal 17 region with ApoH levels. The set of independent SNPs identified by COJO explained 23% of the variance. The relationships between the top SNPs and cardiovascular/lipid/cognition measures and diabetes were assessed in Sydney MAS, with suggestive results observed for diabetes and cognitive performance. However, replication of these results in the smaller OATS cohort was not found. This work provides impetus for future research to better understand the contribution of genetics to ApoH levels and its possible impacts on health.

DOI 10.1038/srep23675
Citations Scopus - 1
Co-authors John Attia, Mark Mcevoy, Rodney Scott, Peter Schofield, Christopher Oldmeadow
2015 Cheng THT, Thompson D, Painter J, O'Mara T, Gorman M, Martin L, et al., 'Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.', Sci Rep, 5 17369 (2015) [C1]
DOI 10.1038/srep17369
Citations Scopus - 2Web of Science - 2
Co-authors Rodney Scott, Katie Ashton, John Attia, Mark Mcevoy
2015 Rannikmäe K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, et al., 'Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease', Neurology, 84 918-926 (2015) [C1]

© 2015 American Academy of Neurology.Objectives: We hypothesized that common variants in the collagen genes COL4A1/COL4A2 are associated with sporadic forms of cerebral small ves... [more]

© 2015 American Academy of Neurology.Objectives: We hypothesized that common variants in the collagen genes COL4A1/COL4A2 are associated with sporadic forms of cerebral small vessel disease. Methods: We conducted meta-analyses of existing genotype data among individuals of European ancestry to determine associations of 1,070 common single nucleotide polymorphisms (SNPs) in the COL4A1/COL4A2 genomic region with the following: intracerebral hemorrhage and its subtypes (deep, lobar) (1,545 cases, 1,485 controls); ischemic stroke and its subtypes (cardioembolic, large vessel disease, lacunar) (12,389 cases, 62,004 controls); and white matter hyperintensities (2,733 individuals with ischemic stroke and 9,361 from population-based cohorts with brain MRI data). We calculated a statistical significance threshold that accounted for multiple testing and linkage disequilibrium between SNPs (p < 0.000084). Results: Three intronic SNPs in COL4A2 were significantly associated with deep intracerebral hemorrhage (lead SNP odds ratio [OR] 1.29, 95% confidence interval [CI] 1.14-1.46, p = 0.00003; r2 > 0.9 between SNPs). Although SNPs associated with deep intracerebral hemorrhage did not reach our significance threshold for association with lacunar ischemic stroke (lead SNP OR 1.10, 95% CI 1.03-1.18, p = 0.0073), and with white matter hyperintensity volume in symptomatic ischemic stroke patients (lead SNP OR 1.07, 95% CI 1.01-1.13, p = 0.016), the direction of association was the same. There was no convincing evidence of association with white matter hyperintensities in population-based studies or with non-small vessel disease cerebrovascular phenotypes. Conclusions: Our results indicate an association between common variation in the COL4A2 gene and symptomatic small vessel disease, particularly deep intracerebral hemorrhage. These findings merit replication studies, including in ethnic groups of non-European ancestry.

DOI 10.1212/WNL.0000000000001309
Citations Scopus - 16Web of Science - 13
Co-authors John Attia, Christopher Levi
2015 Traylor M, Rutten-Jacobs LCA, Holliday EG, Malik R, Sudlow C, Rothwell PM, et al., 'Differences in Common Genetic Predisposition to Ischemic Stroke by Age and Sex', Stroke, 46 3042-3047 (2015) [C1]

© 2015 American Heart Association, Inc.Background and Purpose-Evidence from epidemiological studies points to differences in factors predisposing to stroke by age and sex. Whethe... [more]

© 2015 American Heart Association, Inc.Background and Purpose-Evidence from epidemiological studies points to differences in factors predisposing to stroke by age and sex. Whether these arise because of different genetic influences remained untested. Here, we use data from 4 genome-wide association data sets to study the relationship between genetic influence on stroke with both age and sex. Methods-Using genomic-relatedness-matrix restricted maximum likelihood methods, we performed 4 analyses: (1) we calculated the genetic correlation between groups divided by age and (2) by sex, (3) we calculated the heritability of age-at-stroke-onset, and (4) we evaluated the evidence that heritability of stroke is greater in women than in men. Results-We found that genetic factors influence age at stroke onset (h2 [SE]=18.0 [6.8]; P=0.0038), with a trend toward a stronger influence in women (women: h2 [SE]=21.6 [3.5]; Men: h2 [SE]=13.9 [2.8]). Although a moderate proportion of genetic factors was shared between sexes (rG [SE]=0.68 [0.16]) and between younger and older cases (rG [SE]=0.70 [0.17]), there was evidence to suggest that there are genetic susceptibility factors that are specific to sex (P=0.037) and to younger or older groups (P=0.056), particularly for women (P=0.0068). Finally, we found a trend toward higher heritability of stroke in women although this was not significantly greater than in men (P=0.084). Conclusions-Our results indicate that there are genetic factors that are either unique to or have a different effect between younger and older age groups and between women and men. Performing large, well-powered genome-wide association study analyses in these groups is likely to uncover further associations.

DOI 10.1161/STROKEAHA.115.009816
Citations Scopus - 6Web of Science - 7
Co-authors Jane Maguire, Christopher Levi
2015 Chan JPL, Thalamuthu A, Oldmeadow C, Armstrong NJ, Holliday EG, McEvoy M, et al., 'Genetics of hand grip strength in mid to late life', Age, 37 1-10 (2015) [C1]

© 2015, American Aging Association.Hand grip strength (GS) is a predictor of mortality in older adults and is moderately to highly heritable, but no genetic variants have been co... [more]

© 2015, American Aging Association.Hand grip strength (GS) is a predictor of mortality in older adults and is moderately to highly heritable, but no genetic variants have been consistently identified. We aimed to identify single nucleotide polymorphisms (SNPs) associated with GS in middle-aged to older adults using a genome-wide association study (GWAS). GS was measured using handheld dynamometry in community-dwelling men and women aged 55¿85 from the Hunter Community Study (HCS, N = 2088) and the Sydney Memory and Ageing Study (Sydney MAS, N = 541). Genotyping was undertaken using Affymetrix microarrays with imputation to HapMap2. Analyses were performed using linear regression. No genome-wide significant results were observed in HCS nor were any of the top signals replicated in Sydney MAS. Gene-based analyses in HCS identified two significant genes (ZNF295, C2CD2), but these results were not replicated in Sydney MAS. One out of eight SNPs previously associated with GS, rs550942, located near the CNTF gene, was significantly associated with GS (p = 0.005) in the HCS cohort only. Study differences may explain the lack of consistent results between the studies, including the smaller sample size of the Sydney MAS cohort. Our modest sample size also had limited power to identify variants of small effect. Our results suggest that similar to various other complex traits, many genetic variants of small effect size may influence GS. Future GWAS using larger samples and consistent measures may prove more fruitful at identifying genetic contributors for GS in middle-aged to older adults.

DOI 10.1007/s11357-015-9745-5
Citations Scopus - 1Web of Science - 1
Co-authors Roseanne Peel, Mark Mcevoy, John Attia, Rodney Scott, Christopher Oldmeadow
2015 Davies G, Armstrong N, Bis JC, Bressler J, Chouraki V, Giddaluru S, et al., 'Genetic contributions to variation in general cognitive function: A meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)', Molecular Psychiatry, 20 183-192 (2015) [C1]

© 2015 Macmillan Publishers Limited.General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic co... [more]

© 2015 Macmillan Publishers Limited.General cognitive function is substantially heritable across the human life course from adolescence to old age. We investigated the genetic contribution to variation in this important, health- and well-being-related trait in middle-aged and older adults. We conducted a meta-analysis of genome-wide association studies of 31 cohorts (N=53 949) in which the participants had undertaken multiple, diverse cognitive tests. A general cognitive function phenotype was tested for, and created in each cohort by principal component analysis. We report 13 genome-wide significant single-nucleotide polymorphism (SNP) associations in three genomic regions, 6q16.1, 14q12 and 19q13.32 (best SNP and closest gene, respectively: rs10457441, P=3.93 × 10-9, MIR2113; rs17522122, P=2.55 × 10-8, AKAP6; rs10119, P=5.67 × 10-9, APOE/TOMM40). We report one gene-based significant association with the HMGN1 gene located on chromosome 21 (P=1 × 10-6). These genes have previously been associated with neuropsychiatric phenotypes. Meta-analysis results are consistent with a polygenic model of inheritance. To estimate SNP-based heritability, the genome-wide complex trait analysis procedure was applied to two large cohorts, the Atherosclerosis Risk in Communities Study (N=6617) and the Health and Retirement Study (N=5976). The proportion of phenotypic variation accounted for by all genotyped common SNPs was 29% (s.e.=5%) and 28% (s.e.=7%), respectively. Using polygenic prediction analysis, ~1.2% of the variance in general cognitive function was predicted in the Generation Scotland cohort (N=5487; P=1.5 × 10-17). In hypothesis-driven tests, there was significant association between general cognitive function and four genes previously associated with Alzheimer's disease: TOMM40, APOE, ABCG1 and MEF2C.

DOI 10.1038/mp.2014.188
Citations Scopus - 49Web of Science - 46
Co-authors Rodney Scott, Christopher Oldmeadow, Peter Schofield, John Attia
2015 Sapkota Y, Attia J, Gordon SD, Henders AK, Holliday EG, Rahmioglu N, et al., 'Genetic burden associated with varying degrees of disease severity in endometriosis', MOLECULAR HUMAN REPRODUCTION, 21 594-602 (2015) [C1]
DOI 10.1093/molehr/gav021
Citations Scopus - 5Web of Science - 5
Co-authors Rodney Scott, John Attia, Mark Mcevoy
2015 Malik R, Freilinger T, Winsvold BS, Anttila V, Vander Heiden J, Traylor M, et al., 'Shared genetic basis for migraine and ischemic stroke', Neurology, 84 2132-2145 (2015) [C1]

© 2015 American Academy of Neurology.Objective: To quantify genetic overlap between migraine and ischemic stroke (IS) with respect to common genetic variation. Methods: We applie... [more]

© 2015 American Academy of Neurology.Objective: To quantify genetic overlap between migraine and ischemic stroke (IS) with respect to common genetic variation. Methods: We applied 4 different approaches to large-scale meta-analyses of genome-wide data on migraine (23,285 cases and 95,425 controls) and IS (12,389 cases and 62,004 controls). First, we queried known genome-wide significant loci for both disorders, looking for potential overlap of signals. We then analyzed the overall shared genetic load using polygenic scores and estimated the genetic correlation between disease subtypes using data derived from these models. We further interrogated genomic regions of shared risk using analysis of covariance patterns between the 2 phenotypes using cross-phenotype spatial mapping. Results: We found substantial genetic overlap between migraine and IS using all 4 approaches. Migraine without aura (MO) showed much stronger overlap with IS and its subtypes than migraine with aura (MA). The strongest overlap existed between MO and large artery stroke (LAS; p 6.4 × 10-28 for the LAS polygenic score in MO) and between MO and cardioembolic stroke (CE; p 2.7 × 10-20 for the CE score in MO). Conclusions: Our findings indicate shared genetic susceptibility to migraine and IS, with a particularly strong overlap between MO and both LAS and CE pointing towards shared mechanisms. Our observations on MA are consistent with a limited role of common genetic variants in this subtype.

DOI 10.1212/WNL.0000000000001606
Citations Scopus - 19Web of Science - 19
Co-authors Jane Maguire
2015 Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, et al., 'Genetic studies of body mass index yield new insights for obesity biology', NATURE, 518 197-U401 (2015) [C1]
DOI 10.1038/nature14177
Citations Scopus - 418Web of Science - 395
2015 Peyrot WJ, Lee SH, Milaneschi Y, Abdellaoui A, Byrne EM, Esko T, et al., 'The association between lower educational attainment and depression owing to shared genetic effects? Results in ~25 000 subjects', Molecular Psychiatry, 20 735-743 (2015)

An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotro... [more]

An association between lower educational attainment (EA) and an increased risk for depression has been confirmed in various western countries. This study examines whether pleiotropic genetic effects contribute to this association. Therefore, data were analyzed from a total of 9662 major depressive disorder (MDD) cases and 14 949 controls (with no lifetime MDD diagnosis) from the Psychiatric Genomics Consortium with additional Dutch and Estonian data. The association of EA and MDD was assessed with logistic regression in 15 138 individuals indicating a significantly negative association in our sample with an odds ratio for MDD 0.78 (0.75-0.82) per standard deviation increase in EA. With data of 884 105 autosomal common single-nucleotide polymorphisms (SNPs), three methods were applied to test for pleiotropy between MDD and EA: (i) genetic profile risk scores (GPRS) derived from training data for EA (independent meta-analysis on ~120 000 subjects) and MDD (using a 10-fold leave-one-out procedure in the current sample), (ii) bivariate genomic-relationship-matrix restricted maximum likelihood (GREML) and (iii) SNP effect concordance analysis (SECA). With these methods, we found (i) that the EA-GPRS did not predict MDD status, and MDD-GPRS did not predict EA, (ii) a weak negative genetic correlation with bivariate GREML analyses, but this correlation was not consistently significant, (iii) no evidence for concordance of MDD and EA SNP effects with SECA analysis. To conclude, our study confirms an association of lower EA and MDD risk, but this association was not because of measurable pleiotropic genetic effects, which suggests that environmental factors could be involved, for example, socioeconomic status.

DOI 10.1038/mp.2015.50
Citations Scopus - 5
Co-authors John Attia, Rodney Scott
2015 Denham JW, Steigler A, Joseph D, Lamb DS, Spry NA, Duchesne G, et al., 'Radiation dose escalation or longer androgen suppression for locally advanced prostate cancer? Data from the TROG 03.04 RADAR trial', Radiotherapy and Oncology, 115 301-307 (2015) [C1]
DOI 10.1016/j.radonc.2015.05.016
Citations Scopus - 14Web of Science - 14
Co-authors Jim Denham, John Attia, Allison Steigler, Christopher Oldmeadow
2015 Achterberg S, Kappelle LJ, De Bakker PIW, Traylor M, Algra A, Van Der Graaf Y, et al., 'No additional prognostic value of genetic information in the prediction of vascular events after cerebral ischemia of arterial origin: The PROMISe study', PLoS ONE, 10 (2015) [C1]

© 2015 Achterberg et al.Background: Patients who have suffered from cerebral ischemia have a high risk of recurrent vascular events. Predictive models based on classical risk fac... [more]

© 2015 Achterberg et al.Background: Patients who have suffered from cerebral ischemia have a high risk of recurrent vascular events. Predictive models based on classical risk factors typically have limited prognostic value. Given that cerebral ischemia has a heritable component, genetic information might improve performance of these risk models. Our aim was to develop and compare two models: one containing traditional vascular risk factors, the other also including genetic information. Methods and Results: We studied 1020 patients with cerebral ischemia and genotyped them with the Illumina Immunochip. Median follow-up time was 6.5 years; the annual incidence of new ischemic events (primary outcome, n=198) was 3.0%. The prognostic model based on classical vascular risk factors had an area under the receiver operating characteristics curve (AUC-ROC) of 0.65 (95% confidence interval 0.61-0.69). When we added a genetic risk score based on prioritized SNPs from a genome-wide association study of ischemic stroke (using summary statistics from the METASTROKE study which included 12389 cases and 62004 controls), the AUC-ROC remained the same. Similar results were found for the secondary outcome ischemic stroke. Conclusions: We found no additional value of genetic information in a prognostic model for the risk of ischemic events in patients with cerebral ischemia of arterial origin. This is consistent with a complex, polygenic architecture, where many genes of weak effect likely act in concert to influence the heritable risk of an individual to develop (recurrent) vascular events. At present, genetic information cannot help clinicians to distinguish patients at high risk for recurrent vascular events.

DOI 10.1371/journal.pone.0119203
Co-authors Christopher Levi
2015 Nead KT, Sharp SJ, Thompson DJ, Painter JN, Savage DB, Semple RK, et al., 'Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.', Journal of the National Cancer Institute, 107 (2015) [C1]
Citations Scopus - 20Web of Science - 10
Co-authors Rodney Scott, Mark Mcevoy, John Attia
2015 Bluher A, Devan WJ, Holliday EG, Nalls M, Parolo S, Bione S, et al., 'Heritability of young- and old-onset ischaemic stroke', European Journal of Neurology, 22 1488-1491 (2015) [C1]
DOI 10.1111/ene.12827
Citations Scopus - 1Web of Science - 2
Co-authors Jane Maguire
2015 Abdullah N, Abdul Murad NA, Attia J, Oldmeadow C, Mohd Haniff EA, Syafruddin SE, et al., 'Characterizing the genetic risk for Type 2 diabetes in a Malaysian multi-ethnic cohort.', Diabet Med, 32 1377-1384 (2015) [C1]
DOI 10.1111/dme.12735
Co-authors Christopher Oldmeadow, Rodney Scott, John Attia
2015 Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, et al., 'Are myocardial infarction-associated single-nucleotide polymorphisms associated with ischemic stroke? (vol 43, pg 980, 2012)', STROKE, 46 E204-E204 (2015) [C3]
DOI 10.1161/STR.0000000000000073
Co-authors John Attia, Christopher Levi, Pablo Moscato, Jane Maguire, Lisa Lincz
2015 Battey TWK, Valant V, Kassis SB, Kourkoulis C, Lee C, Anderson CD, et al., 'Recommendations from the international stroke genetics consortium, part 2: Biological sample collection and storage', Stroke, 46 285-290 (2015) [C1]
DOI 10.1161/STROKEAHA.114.006851
Citations Scopus - 3Web of Science - 3
Co-authors Jane Maguire
2015 Gorski M, Tin A, Garnaas M, McMahon GM, Chu AY, Tayo BO, et al., 'Genome-wide association study of kidney function decline in individuals of European descent', Kidney International, 87 1017-1029 (2015) [C1]

© 2014 International Society of Nephrology.Genome-wide association studies (GWASs) have identified multiple loci associated with cross-sectional eGFR, but a systematic genetic an... [more]

© 2014 International Society of Nephrology.Genome-wide association studies (GWASs) have identified multiple loci associated with cross-sectional eGFR, but a systematic genetic analysis of kidney function decline over time is missing. Here we conducted a GWAS meta-analysis among 63,558 participants of European descent, initially from 16 cohorts with serial kidney function measurements within the CKDGen Consortium, followed by independent replication among additional participants from 13 cohorts. In stage 1 GWAS meta-analysis, single-nucleotide polymorphisms (SNPs) at MEOX2, GALNT11, IL1RAP, NPPA, HPCAL1, and CDH23 showed the strongest associations for at least one trait, in addition to the known UMOD locus, which showed genome-wide significance with an annual change in eGFR. In stage 2 meta-analysis, the significant association at UMOD was replicated. Associations at GALNT11 with Rapid Decline (annual eGFR decline of 3 ml/min per 1.73 m 2 or more), and CDH23 with eGFR change among those with CKD showed significant suggestive evidence of replication. Combined stage 1 and 2 meta-analyses showed significance for UMOD, GALNT11, and CDH23. Morpholino knockdowns of galnt11 and cdh23 in zebrafish embryos each had signs of severe edema 72 h after gentamicin treatment compared with controls, but no gross morphological renal abnormalities before gentamicin administration. Thus, our results suggest a role in the deterioration of kidney function for the loci GALNT11 and CDH23, and show that the UMOD locus is significantly associated with kidney function decline.

DOI 10.1038/ki.2014.361
Citations Scopus - 15Web of Science - 14
2015 Nakayama A, Major G, Holliday E, Attia J, Bogduk N, 'Evidence of effectiveness of a fracture liaison service to reduce the re-fracture rate', Osteoporosis International, 1-7 (2015) [C1]

© 2015 The Author(s) Summary: We assessed the ability of a fracture liaison service (FLS) to directly reduce re-fracture risk. Having a FLS is associated with a ~40 % reduction i... [more]

© 2015 The Author(s) Summary: We assessed the ability of a fracture liaison service (FLS) to directly reduce re-fracture risk. Having a FLS is associated with a ~40 % reduction in the 3-year risk of major bone and ~30 % of any bone re-fracture. The number needed to treat to prevent a re-fracture is 20. Introduction: FLS have been promoted as the most effective interventions for secondary fracture prevention, and while there is evidence of increased rate of investigation and treatment at institutions with a FLS, only a few studies have considered fracture outcomes directly. We therefore sought to evaluate the ability of our FLS to reduce re-fracture risk. Methods: Historical cohort study of all patients =50 years presenting over a 6-month period with a minimal trauma fracture (MTF) to the emergency departments of a tertiary hospital with a FLS, and one without a FLS. Baseline characteristics, mortality and MTFs over a 3-year follow-up were recorded. Results: Five hundred fifteen patients at the FLS hospital and 416 patients at the non-FLS hospital were studied. Over 3 years, 63/515 (12 %) patients at the FLS hospital and 70/416 (17 %) at the non-FLS hospital had a MTF. All patients were analysed in an intention-to-treat analysis regardless of whether they were seen in the FLS follow-up clinic. Statistical analysis using Cox proportional hazard models in the presence of a competing risk of death from any cause was used. After adjustment for baseline characteristics, there was a ~30 % reduction in rate of any re-fracture at the FLS hospital (hazard ratio (HR) 0.67, confidence interval (CI) 0.47-0.95, p value 0.025) and a ~40 % reduction in major re-fractures (hip, spine, femur, pelvis or humerus) (HR 0.59, CI 0.39-0.90, p value 0.013). Conclusions: We found a ~30 % reduction in any re-fractures and a ~40 % reduction in major re-fractures at the FLS hospital compared with a similar non-FLS hospital. The number of patients needed to treat to prevent one new fracture over 3 years is 20.

DOI 10.1007/s00198-015-3443-0
Citations Scopus - 7Web of Science - 8
Co-authors John Attia, Nik Bogduk
2015 Debette S, Ibrahim Verbaas CA, Bressler J, Schuur M, Smith A, Bis JC, et al., 'Genome-wide studies of verbal declarative memory in nondemented older people: The Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium', Biological Psychiatry, 77 749-763 (2015) [C1]

© 2015 Society of Biological Psychiatry.BACKGROUND: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to ... [more]

© 2015 Society of Biological Psychiatry.BACKGROUND: Memory performance in older persons can reflect genetic influences on cognitive function and dementing processes. We aimed to identify genetic contributions to verbal declarative memory in a community setting. METHODS: We conducted genome-wide association studies for paragraph or word list delayed recall in 19 cohorts from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, comprising 29,076 dementia- and stroke-free individuals of European descent, aged =45 years. Replication of suggestive associations (p < 5 × 10-6) was sought in 10,617 participants of European descent, 3811 African-Americans, and 1561 young adults. RESULTS: rs4420638, near APOE, was associated with poorer delayed recall performance in discovery (p = 5.57 × 10-10) and replication cohorts (p = 5.65 × 10-8). This association was stronger for paragraph than word list delayed recall and in the oldest persons. Two associations with specific tests, in subsets of the total sample, reached genome-wide significance in combined analyses of discovery and replication (rs11074779 [HS3ST4], p = 3.11 × 10-8, and rs6813517 [SPOCK3], p = 2.58 × 10-8) near genes involved in immune response. A genetic score combining 58 independent suggestive memory risk variants was associated with increasing Alzheimer disease pathology in 725 autopsy samples. Association of memory risk loci with gene expression in 138 human hippocampus samples showed cis-associations with WDR48 and CLDN5, both related to ubiquitin metabolism. CONCLUSIONS: This largest study to date exploring the genetics of memory function in ~40,000 older individuals revealed genome-wide associations and suggested an involvement of immune and ubiquitin pathways.

DOI 10.1016/j.biopsych.2014.08.027
Citations Scopus - 10Web of Science - 7
Co-authors Christopher Oldmeadow, Mark Mcevoy, John Attia, Rodney Scott, Peter Schofield
2015 Moir-Meyer GL, Pearson JF, Lose F, The ANECSG, Scott RJ, McEvoy M, et al., 'Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition', Human Genetics, 134 269-278 (2015) [C1]

© 2014, Springer-Verlag Berlin Heidelberg.Endometrial cancer is the most common invasive gynaecological cancer in women, and relatively little is known about inherited risk facto... [more]

© 2014, Springer-Verlag Berlin Heidelberg.Endometrial cancer is the most common invasive gynaecological cancer in women, and relatively little is known about inherited risk factors for this disease. This is the first genome-wide study to explore the role of common and rare germline copy number variants (CNVs) in predisposition to endometrial cancer. CNVs were called from germline DNA of 1,209 endometrioid endometrial cancer cases and 528 cancer-unaffected female controls. Overall CNV load of deletions or DNA gains did not differ significantly between cases and controls (P¿>¿0.05), but cases presented with an excess of rare germline deletions overlapping likely functional genomic regions including genes (P¿=¿8¿×¿10-10), CpG islands (P¿=¿1¿×¿10-7) and sno/miRNAs regions (P¿=¿3¿×¿10-9). On average, at least one additional gene and two additional CpG islands were disrupted by rare deletions in cases compared to controls. The most pronounced difference was that over 30 sno/miRNAs were disrupted by rare deletions in cases for every single disruption event in controls. A total of 13 DNA repair genes were disrupted by rare deletions in 19/1,209 cases (1.6¿%) compared to one gene in 1/528 controls (0.2¿%; P¿=¿0.007), and this increased DNA repair gene loss in cases persisted after excluding five individuals carrying CNVs disrupting mismatch repair genes MLH1, MSH2 and MSH6 (P¿=¿0.03). There were 34 miRNA regions deleted in at least one case but not in controls, the most frequent of which encompassed hsa-mir-661 and hsa-mir-203. Our study implicates rare germline deletions of functional and regulatory regions as possible mechanisms conferring endometrial cancer risk, and has identified specific regulatory elements as candidates for further investigation.

DOI 10.1007/s00439-014-1507-4
Citations Scopus - 1Web of Science - 1
Co-authors Rodney Scott, Mark Mcevoy, John Attia
2015 Painter JN, O'Mara TA, Batra J, Cheng T, Lose FA, Dennis J, et al., 'Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk', HUMAN MOLECULAR GENETICS, 24 1478-1492 (2015) [C1]
DOI 10.1093/hmg/ddu552
Citations Scopus - 11Web of Science - 12
Co-authors Rodney Scott, Katie Ashton, John Attia, Mark Mcevoy
2015 Hancock DB, Levy JL, Gaddis NC, Glasheen C, Saccone NL, Page GP, et al., 'Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1', Biological Psychiatry, 78 474-484 (2015) [C1]
DOI 10.1016/j.biopsych.2015.01.003
Citations Scopus - 5Web of Science - 4
Co-authors Rodney Scott, Mark Mcevoy, John Attia
2015 Holliday EG, Traylor M, Malik R, Bevan S, Falcone G, Hopewell JC, et al., 'Genetic Overlap Between Diagnostic Subtypes of Ischemic Stroke', STROKE, 46 615-+ (2015) [C1]
DOI 10.1161/STROKEAHA.114.007930
Citations Scopus - 10Web of Science - 10
Co-authors Lisa Lincz, Jane Maguire, Christopher Levi, Rodney Scott, Christopher Oldmeadow, John Attia
2015 Sapkota Y, Low SK, Attia J, Gordon SD, Henders AK, Holliday EG, et al., 'Association between endometriosis and the interleukin 1A (IL1A) locus.', Human Reproduction, 30 239-248 (2015) [C1]
DOI 10.1093/humrep/deu267
Citations Scopus - 12Web of Science - 10
Co-authors Rodney Scott, John Attia, Mark Mcevoy
2015 O'Mara TA, Glubb DM, Painter JN, Cheng T, Dennis J, Australian National Endometrial Cancer Study Group (ANECS), et al., 'Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.', Endocr Relat Cancer, 22 851-861 (2015) [C1]
DOI 10.1530/ERC-15-0319
Citations Scopus - 4Web of Science - 4
Co-authors Rodney Scott, John Attia, Mark Mcevoy, Katie Ashton
2015 Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, et al., 'New genetic loci link adipose and insulin biology to body fat distribution', Nature, 518 187-196 (2015) [C1]
DOI 10.1038/nature14132
Citations Scopus - 154Web of Science - 145
2015 Ek WE, Reznichenko A, Ripke S, Niesler B, Zucchelli M, Rivera NV, et al., 'Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.', Gut, 64 1774-1782 (2015) [C1]
DOI 10.1136/gutjnl-2014-307997
Citations Scopus - 12Web of Science - 10
Co-authors Nicholas Talley
2014 Oldmeadow C, Mossman D, Evans T-J, Holliday EG, Tooney PA, Cairns MJ, et al., 'Combined analysis of exon splicing and genome wide polymorphism data predict schizophrenia risk loci.', J Psychiatr Res, 52 44-49 (2014) [C1]
DOI 10.1016/j.jpsychires.2014.01.011
Citations Scopus - 7Web of Science - 7
Co-authors John Attia, Rodney Scott, Christopher Oldmeadow, Murray Cairns, Paul Tooney
2014 Traylor M, Mäkelä K-M, Kilarski LL, Holliday EG, Devan WJ, Nalls MA, et al., 'A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach.', PLoS Genet, 10 e1004469 (2014) [C1]
DOI 10.1371/journal.pgen.1004469
Citations Scopus - 17Web of Science - 17
Co-authors Jane Maguire, Christopher Levi, John Attia
2014 Evans T-J, Milne E, Anderson D, de Klerk NH, Jamieson SE, Talseth-Palmer BA, et al., 'Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.', PLoS One, 9 e110255 (2014) [C1]
DOI 10.1371/journal.pone.0110255
Citations Scopus - 5Web of Science - 5
Co-authors Nikola Bowden, John Attia, Bente Talseth-Palmer, Rodney Scott
2014 Holliday EG, Attia J, Hancock S, Koloski N, McEvoy M, Peel R, et al., 'Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome', American Journal of Gastroenterology, 109 770-772 (2014) [C1]
DOI 10.1038/ajg.2014.56
Citations Scopus - 6Web of Science - 6
Co-authors Mark Mcevoy, Roseanne Peel, Nicholas Talley, John Attia, Rodney Scott
2014 Kilarski LL, Achterberg S, Devan WJ, Traylor M, Malik R, Lindgren A, et al., 'Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12', NEUROLOGY, 83 678-685 (2014) [C1]
Citations Scopus - 33Web of Science - 36
Co-authors Christopher Levi, Jane Maguire
2014 Malik R, Bevan S, Nalls MA, Holliday EG, Devan WJ, Cheng YC, et al., 'Multilocus genetic risk score associates with ischemic stroke in case-control and prospective cohort studies', Stroke, 45 394-402 (2014) [C1]

Background and Purpose - Genome-wide association studies have revealed multiple common variants associated with known risk factors for ischemic stroke (IS). However, their aggrega... [more]

Background and Purpose - Genome-wide association studies have revealed multiple common variants associated with known risk factors for ischemic stroke (IS). However, their aggregate effect on risk is uncertain. We aimed to generate a multilocus genetic risk score (GRS) for IS based on genome-wide association studies data from clinical-based samples and to establish its external validity in prospective population-based cohorts. Methods - Three thousand five hundred forty-eight clinic-based IS cases and 6399 controls from the Wellcome Trust Case Control Consortium 2 were used for derivation of the GRS. Subjects from the METASTROKE consortium served as a replication sample. The validation sample consisted of 22 751 participants from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. We selected variants that had reached genome-wide significance in previous association studies on established risk factors for IS. Results - A combined GRS for atrial fibrillation, coronary artery disease, hypertension, and systolic blood pressure significantly associated with IS both in the case-control samples and in the prospective population-based studies. Subjects in the top quintile of the combined GRS had >2-fold increased risk of IS compared with subjects in the lowest quintile. Addition of the combined GRS to a simple model based on sex significantly improved the prediction of IS in the combined clinic-based samples but not in the population-based studies, and there was no significant improvement in net reclassification. Conclusions - A multilocus GRS based on common variants for established cardiovascular risk factors was significantly associated with IS both in clinic-based samples and in the general population. However, the improvement in clinical risk prediction was found to be small. © 2014 American Heart Association, Inc.

DOI 10.1161/STROKEAHA.113.002938
Citations Scopus - 21Web of Science - 16
Co-authors Christopher Levi
2014 Cotlarciuc I, Malik R, Holliday EG, Ahmadi KR, Paré G, Psaty BM, et al., 'Effect of genetic variants associated with plasma homocysteine levels on stroke risk', Stroke, 45 1920-1924 (2014) [C1]

BACKGROUND AND PURPOSE - : Elevated total plasma homocysteine (tHcy) levels are known to be associated with increased risk of ischemic stroke (IS). Given that both tHcy and IS are... [more]

BACKGROUND AND PURPOSE - : Elevated total plasma homocysteine (tHcy) levels are known to be associated with increased risk of ischemic stroke (IS). Given that both tHcy and IS are heritable traits, we investigated a potential genetic relationship between homocysteine levels and stroke risk by assessing 18 polymorphisms previously associated with tHcy levels for their association with IS and its subtypes. METHODS - : Previous meta-analysis results from an international stroke collaborative network, METASTROKE, were used to assess association of the 18 tHcy-associated single-nucleotide polymorphisms (SNPs) in 12 389 IS cases and 62 004 controls. We also investigated the associations in regions located within 50 kb from the 18 tHcy-related SNPs and the association of a genetic risk score, including the 18 SNPs. RESULTS - : One SNP located in the RASIP1 gene and a cluster of 3 SNPs located at and near SLC17A3 were significantly associated with IS (P<0.0003) after correcting for multiple testing. For stroke subtypes, the sentinel SNP located upstream of MUT was significantly associated with small-vessel disease (P=0.0022), whereas 1 SNP located in MTHFR was significantly associated with large-vessel disease (P=0.00019). A genetic risk score, including the 18 SNPs, did not show significant association with IS or its subtypes. CONCLUSIONS - : This study found several potential associations with IS and its subtypes: An association of an MUT variant with small-vessel disease, an MTHFR variant with large-vessel disease, and associations of RASIP1 and SLC17A3 variants with overall IS. © 2014 American Heart Association, Inc.

DOI 10.1161/STROKEAHA.114.005208
Citations Scopus - 10Web of Science - 9
2014 Wang JJ, Buitendijk GHS, Rochtchina E, Lee KE, Klein BEK, Van Duijn CM, et al., 'Genetic susceptibility, dietary antioxidants, and long-term incidence of age-related macular degeneration in two populations', Ophthalmology, 121 667-675 (2014) [C1]

Objective To examine effect modification between genetic susceptibility to age-related macular degeneration (AMD) and dietary antioxidant or fish consumption on AMD risk. Design P... [more]

Objective To examine effect modification between genetic susceptibility to age-related macular degeneration (AMD) and dietary antioxidant or fish consumption on AMD risk. Design Pooled data analysis of population-based cohorts. Participants Participants from the Blue Mountains Eye Study (BMES) and Rotterdam Study (RS). Methods Dietary intakes of antioxidants (lutein/zeaxanthin [LZ], ß-carotene, and vitamin C), long-chain omega-3 polyunsaturated fatty acids, and zinc were estimated from food frequency questionnaires. The AMD genetic risk was classified according to the number of risk alleles of CFH (rs1061170) or ARMS2 (rs10490924) as low (no or 1 risk allele) or high (=2 risk alleles). Interactions between dietary intake and genetic risk levels were assessed. Associations between dietary intake and AMD risk were assessed comparing the highest with the 2 lower intake tertiles by genetic risk subgroups using discrete logistic regression, conducted in each study separately and then using pooled data. Participants without AMD lesions at any visit were controls. We adjusted for age and sex in analyses of each cohort sample and for smoking status and study site in pooled-data analyses. Main Outcome Measures All 15-year incident late AMD cases were confirmed by chief investigators of the Beaver Dam Eye Study, BMES, and RS. Intergrader reproducibility was assessed in an early AMD subsample, with 86.4% agreement between BMES and RS graders, allowing for a 1-step difference on a 5-step AMD severity scale. Results In pooled data analyses, we found significant interaction between AMD genetic risk status and LZ intake (P = 0.0009) but nonsignificant interactions between genetic risk status and weekly fish consumption (P = 0.05) for risk of any AMD. Among participants with high genetic risk, the highest intake tertile of LZ was associated with a >20% reduced risk of early AMD, and weekly consumption of fish was associated with a 40% reduced risk of late AMD. No similar association was evident among participants with low genetic risk. No interaction was detected between ß-carotene or vitamin C and genetic risk status. Conclusions Protection against AMD from greater LZ and fish consumption in persons with high genetic risk based on 2 major AMD genes raises the possibility of personalized preventive interventions. ©2014 by the American Academy of Ophthalmology.

DOI 10.1016/j.ophtha.2013.10.017
Citations Scopus - 20Web of Science - 19
Co-authors Wayne Smith, John Attia
2014 De Vivo I, Prescott J, Setiawan VW, Olson SH, Wentzensen N, Attia J, et al., 'Genome-wide association study of endometrial cancer in E2C2', HUMAN GENETICS, 133 211-224 (2014) [C1]
DOI 10.1007/s00439-013-1369-1
Citations Scopus - 15Web of Science - 15
Co-authors Mark Mcevoy, John Attia, Rodney Scott
2014 Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, et al., 'Ischemic stroke is associated with the ABO locus: The EuroCLOT study (vol 73, pg 16, 2013)', ANNALS OF NEUROLOGY, 75 166-167 (2014)
DOI 10.1002/ana.24105
Co-authors Christopher Levi, John Attia, Rodney Scott
2014 Moayyeri A, Hsu Y-H, Karasik D, Estrada K, Xiao S-M, Nielson C, et al., 'Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium', HUMAN MOLECULAR GENETICS, 23 3054-3068 (2014) [C1]
DOI 10.1093/hmg/ddt675
Citations Scopus - 30Web of Science - 25
Co-authors Mark Mcevoy, Rodney Scott, John Attia, Christopher Oldmeadow, Roseanne Peel
2014 Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, et al., 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, 5 (2014) [C1]

© 2014 Macmillan Publishers Limited. All rights reserved.Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindne... [more]

© 2014 Macmillan Publishers Limited. All rights reserved.Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

DOI 10.1038/ncomms5883
Citations Scopus - 22
Co-authors Rodney Scott, John Attia
2014 Loth DW, Artigas MS, Gharib SA, Wain LV, Franceschini N, Koch B, et al., 'Genome-wide association analysis identifies six new loci associated with forced vital capacity', NATURE GENETICS, 46 669-677 (2014) [C1]
DOI 10.1038/ng.3011
Citations Scopus - 30Web of Science - 29
Co-authors Rodney Scott, Christopher Oldmeadow, John Attia
2014 Holliday EG, Traylor M, Malik R, Bevan S, Maguire J, Koblar SA, et al., 'Polygenic Overlap Between Kidney Function and Large Artery Atherosclerotic Stroke', STROKE, 45 3508-+ (2014) [C1]
DOI 10.1161/STROKEAHA.114.006609
Citations Scopus - 2Web of Science - 3
Co-authors Mark Mcevoy, Jane Maguire, Christopher Levi, Christopher Oldmeadow, John Attia, Rodney Scott
2014 Oldmeadow C, Holliday EG, McEvoy M, Scott R, Kwok JBJ, Mather K, et al., 'Concordance between direct and imputed APOE genotypes using 1000 genomes data', Journal of Alzheimer's Disease, 42 391-393 (2014) [C1]

© 2014 - IOS Press and the authors. All rights reserved.There are a growing number of large cohorts of older persons with genome-wide genotyping data available, but APOE is not i... [more]

© 2014 - IOS Press and the authors. All rights reserved.There are a growing number of large cohorts of older persons with genome-wide genotyping data available, but APOE is not included in any of the common microarray platforms. We compared directly measured APOE genotypes with those imputed using microarray data and the '1000 Genomes' dataset in a sample of 320 Caucasians. We find 90% agreement for e2/e3/e4 genotypes and 93% agreement for predicting e4 status, yielding kappa values of 0.81 and 0.84, respectively. More stringent thresholds around allele number estimates can increase this agreement to 90-97% and kappas of 0.90-0.93.

DOI 10.3233/JAD-140846
Citations Scopus - 1Web of Science - 1
Co-authors Peter Schofield, Christopher Oldmeadow, Mark Mcevoy, John Attia, Rodney Scott
2014 de Zeeuw EL, van Beijsterveldt CEM, Glasner TJ, Bartels M, Ehli EA, Davies GE, et al., 'Polygenic scores associated with educational attainment in adults predict educational achievement and ADHD symptoms in children', American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 165 510-520 (2014)

The American Psychiatric Association estimates that 3 to 7 per cent of all school aged children are diagnosed with attention deficit hyperactivity disorder (ADHD). Even after corr... [more]

The American Psychiatric Association estimates that 3 to 7 per cent of all school aged children are diagnosed with attention deficit hyperactivity disorder (ADHD). Even after correcting for general cognitive ability, numerous studies report a negative association between ADHD and educational achievement. With polygenic scores we examined whether genetic variants that have a positive influence on educational attainment have a protective effect against ADHD. The effect sizes from a large GWA meta-analysis of educational attainment in adults were used to calculate polygenic scores in an independent sample of 12-year-old children from the Netherlands Twin Register. Linear mixed models showed that the polygenic scores significantly predicted educational achievement, school performance, ADHD symptoms and attention problems in children. These results confirm the genetic overlap between ADHD and educational achievement, indicating that one way to gain insight into genetic variants responsible for variation in ADHD is to include data on educational achievement, which are available at a larger scale. © 2014 Wiley Periodicals, Inc.

DOI 10.1002/ajmg.b.32254
Citations Scopus - 8
Co-authors Christopher Oldmeadow, John Attia, Rodney Scott
2014 Abdullah N, Attia J, Oldmeadow C, Scott RJ, Holliday EG, 'The Architecture of Risk for Type 2 Diabetes: Understanding Asia in the Context of Global Findings', INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, (2014) [C1]
DOI 10.1155/2014/593982
Citations Scopus - 11Web of Science - 1
Co-authors Christopher Oldmeadow, Rodney Scott, John Attia
2013 Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al., 'Genome-wide association analyses identify 18 new loci associated with serum urate concentrations', Nature Genetics, 45 145-154 (2013)

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Glo... [more]

Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout. © 2013 Nature America, Inc. All rights reserved.

DOI 10.1038/ng.2500
Co-authors Christopher Oldmeadow, John Attia, Rodney Scott
2013 Yadav S, Cotlarciuc I, Munroe PB, Khan MS, Nalls MA, Bevan S, et al., 'Genome-Wide Analysis of Blood Pressure Variability and Ischemic Stroke', Stroke, 44 2703-2709 (2013) [C1]
DOI 10.1161/STROKEAHA.113.002186
Citations Scopus - 8Web of Science - 7
Co-authors John Attia, Jane Maguire, Rodney Scott, Mark Mcevoy
2013 Adib-Samii P, Rost N, Traylor M, Devan W, Biffi A, Lanfranconi S, et al., '17q25 Locus is associated with white matter hyperintensity volume in ischemic stroke, but not with lacunar stroke status', Stroke, 44 1609-1615 (2013) [C1]
Citations Scopus - 21Web of Science - 21
Co-authors Christopher Levi, Jane Maguire
2013 Buitendijk GHS, Rochtchina E, Myers C, Van Duijn CM, Lee KE, Klein BEK, et al., 'Prediction of age-related macular degeneration in the general population: The three continent AMD consortium', Ophthalmology, 120 2644-2655 (2013) [C1]
DOI 10.1016/j.ophtha.2013.07.053
Citations Scopus - 31Web of Science - 36
Co-authors John Attia
2013 Schache M, Richardson AJ, Mitchell P, Wang JJ, Rochtchina E, Viswanathan AC, et al., 'Genetic association of refractive error and axial length with 15q14 but not 15q25 in the Blue Mountains Eye Study Cohort', Ophthalmology, 120 292-297 (2013) [C1]
Citations Scopus - 12Web of Science - 9
Co-authors John Attia, Rodney Scott
2013 Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, et al., 'Ischemic stroke is associated with the ABO locus: The EuroCLOT Study', Annals of Neurology, 73 16-31 (2013) [C1]
Citations Scopus - 39Web of Science - 39
Co-authors Christopher Levi, John Attia, Rodney Scott
2013 Parsa A, Fuchsberger C, Köttgen A, O'Seaghdha CM, Pattaro C, De Andrade M, et al., 'Common variants in mendelian kidney disease genes and their association with renal function', Journal of the American Society of Nephrology, 24 2105-2117 (2013) [C1]

Many common genetic variants identified by genome-wide association studies for complex traitsmap to genes previously linked to rare inherited Mendelian disorders. A systematic ana... [more]

Many common genetic variants identified by genome-wide association studies for complex traitsmap to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. Copyright © 2013 by the American Society of Nephrology.

DOI 10.1681/ASN.2012100983
Citations Scopus - 10Web of Science - 8
2013 Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, et al., 'Genome-wide association analyses identify 18 new loci associated with serum urate concentrations', Nature Genetics, 45 145-154 (2013) [C1]
Citations Scopus - 166Web of Science - 156
Co-authors Christopher Oldmeadow, John Attia, Rodney Scott
2013 Rietveld CA, Medland SE, Derringer J, Yang J, Esko T, Martin NW, et al., 'GWAS of 126,559 individuals identifies genetic variants associated with educational attainment', Science, 340 1467-1471 (2013) [C1]
Citations Scopus - 190Web of Science - 178
Co-authors Rodney Scott, John Attia, Christopher Oldmeadow
2013 Magee CA, Holliday EG, Attia JR, Kritharides L, Banks E, 'Investigation of the relationship between sleep duration, all-cause mortality, and preexisting disease', Sleep Medicine, 14 591-596 (2013) [C1]
Citations Scopus - 18Web of Science - 14
Co-authors John Attia
2013 Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, et al., 'Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error', Human Molecular Genetics, 22 2754-2764 (2013) [C1]
Citations Scopus - 20Web of Science - 18
Co-authors Rodney Scott, John Attia
2013 Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Avery-Kiejda KA, Scott RJ, 'STaRRRT: a table of short tandem repeats in regulatory regions of the human genome', BMC GENOMICS, 14 (2013) [C1]
DOI 10.1186/1471-2164-14-795
Citations Scopus - 9Web of Science - 8
Co-authors Nikola Bowden, Kelly Kiejda, Rodney Scott
2013 Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'Continuing difficulties in interpreting CNV data: Lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients', BMC Medical Genomics, 6 1-13 (2013) [C1]
Citations Scopus - 8Web of Science - 7
Co-authors Rodney Scott, Bente Talseth-Palmer, Mark Mcevoy, John Attia
2013 Holliday EG, Magee CA, Kritharides L, Banks E, Attia J, 'Short Sleep Duration Is Associated with Risk of Future Diabetes but Not Cardiovascular Disease: a Prospective Study and Meta-Analysis', PLOS ONE, 8 (2013) [C1]
DOI 10.1371/journal.pone.0082305
Citations Scopus - 37Web of Science - 31
Co-authors John Attia
2013 Sun C, Young TL, Mackey DA, Van Zuydam NR, Doney ASF, Palmer CNA, et al., 'Genetic loci for retinal arteriolar microcirculation', PLoS One, 8 e65804 (2013) [C1]
Citations Scopus - 4Web of Science - 4
Co-authors John Attia, Rodney Scott
2013 Jensen RA, Sim X, Li X, Cotch MF, Ikram MK, Holliday EG, et al., 'Genome-wide association study of retinopathy in individuals without diabetes', PLoS One, 8 e54232 (2013) [C1]
Citations Scopus - 5Web of Science - 5
Co-authors Rodney Scott, John Attia
2013 Holliday EG, Smith AV, Cornes BK, Buitendijk GHS, Jensen RA, Sim X, et al., 'Insights into the genetic architecture of early stage age-related macular degeneration: A genome-wide association study meta-analysis', PLoS One, 8 e53830 (2013) [C1]
Citations Scopus - 52Web of Science - 48
Co-authors Rodney Scott, John Attia, Patrick Mcelduff
2013 Holliday EG, 'Hints of unique genetic effects for type 2 diabetes in India', Diabetes, 62 1369-1370 (2013) [C1]
Citations Scopus - 5Web of Science - 5
2012 Cheng YC, Anderson CD, Bione S, Keene K, Maguire JM, Nalls M, et al., 'Are myocardial infarction-associated single-nucleotide polymorphisms associated with ischemic stroke?', Stroke, 43 980-U143 (2012) [C1]
Citations Scopus - 16Web of Science - 17
Co-authors John Attia, Rodney Scott, Lisa Lincz, Christopher Levi, Pablo Moscato, Jane Maguire
2012 Bellenguez C, Bevan S, Gschwendtner A, Spencer CCA, Burgess AI, Pirinen M, et al., 'Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke', Nature Genetics, 44 328-333 (2012) [C1]
DOI 10.1038/ng.1081
Citations Scopus - 183Web of Science - 144
Co-authors John Attia, Christopher Levi
2012 Nyholt DR, Low S-K, Anderson CA, Painter JN, Uno S, Morris AP, et al., 'Genome-wide association meta-analysis identifies new endometriosis risk loci', Nature Genetics, 44 1355-1359 (2012) [C1]
Citations Scopus - 101Web of Science - 81
Co-authors Mark Mcevoy, Rodney Scott, John Attia
2012 Holliday EG, Maguire JM, Evans T-J, Koblar SA, Jannes J, Sturm J, et al., 'Common variants at 6p21.1 are associated with large artery atherosclerotic stroke', Nature Genetics, 44 1147-1153 (2012) [C1]
Citations Scopus - 76Web of Science - 71
Co-authors Jane Maguire, Mark Mcevoy, Wayne Smith, Roseanne Peel, John Attia, Rodney Scott, Pablo Moscato, Christopher Oldmeadow, Christopher Levi, Lisa Lincz, Mark Parsons
2012 Okada Y, Sim X, Go MJ, Wu J-Y, Gu D, Takeuchi F, et al., 'Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations', Nature Genetics, 44 904-909 (2012) [C1]
Citations Scopus - 72Web of Science - 74
Co-authors Christopher Oldmeadow, Rodney Scott, John Attia
2012 Chasman DI, Fuchsberger C, Pattaro C, Teumer A, Boger CA, Endlich K, et al., 'Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function', Human Molecular Genetics, 21 5329-5343 (2012) [C1]
Citations Scopus - 26Web of Science - 27
2012 Traylor M, Farrall M, Holliday EG, Sudlow C, Hopewell JC, Cheng Y-C, et al., 'Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): A meta-analysis of genome-wide association studies', The Lancet Neurology, 11 951-962 (2012) [C1]
Citations Scopus - 176Web of Science - 173
Co-authors Jane Maguire, Christopher Levi
2012 Pattaro C, Kottgen A, Teumer A, Garnaas M, Boger CA, Fuchsberger C, et al., 'Genome-wide association and functional follow-up reveals new loci for kidney function', PLOS Genetics, 8 1-15 (2012) [C1]
Citations Scopus - 67Web of Science - 70
2012 McAuley E, Scimone A, Tiwari Y, Agahi G, Mowry B, Holliday EG, et al., 'Identification of Sialyltransferase 8B as a Generalized Susceptibility Gene for Psychotic and Mood Disorders on Chromosome 15q25-26', PLoS One, 7 3817-3818 (2012) [C1]
Citations Scopus - 25
2011 Oldmeadow CJ, Riveros RC, Holliday EG, Scott R, Moscato PA, Wang JJ, et al., 'Sifting the wheat from the chaff: Prioritizing GWAS results by identifying consistency across analytical methods', Genetic Epidemiology, 35 745-754 (2011) [C1]
DOI 10.1002/gepi.20622
Citations Scopus - 7Web of Science - 6
Co-authors Rodney Scott, Pablo Moscato, Carlos Riveros, John Attia, Christopher Oldmeadow
2011 Khor CC, Davila S, Breunis WB, Lee YC, Shimizu C, Wright VJ, et al., 'Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease', Nature Genetics, 43 1241-1248 (2011) [C1]
Citations Scopus - 129Web of Science - 112
Co-authors John Attia, Rodney Scott
2010 Ikram MK, Xueling S, Jensen RA, Cotch MF, Hewitt AW, Ikram MA, et al., 'Four Novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation In Vivo', Plos Genetics, 6 1-12 (2010) [C1]
DOI 10.1371/journal.pgen.1001184
Citations Scopus - 68Web of Science - 62
Co-authors Rodney Scott, John Attia
2010 Holliday EG, Scott R, Attia JR, 'Evidence-based medicine in the era of biomarkers: Teaching a new dog old tricks?', Clinical Pharmacology and Therapeutics, 88 740-742 (2010) [C2]
DOI 10.1038/clpt.2010.214
Citations Scopus - 4Web of Science - 3
Co-authors John Attia, Rodney Scott
2009 Holliday EG, 'Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India (American Journal of Psychiatry (2008))', American Journal of Psychiatry, 166 238 (2009)
DOI 10.1176/appi.ajp.2009.166.2.238
2009 Holliday EG, Nyholt DR, Tirupati S, John S, Ramachandran P, Ramamurti M, et al., 'Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India', American Journal of Psychiatry, 166 206-215 (2009) [C1]
DOI 10.1176/appi.ajp.2008.08030442
Citations Scopus - 12Web of Science - 12
2009 Holliday EG, McLean DE, Nyholt DR, Mowry BJ, 'Susceptibility locus on chromosome 1q23-25 for a schizophrenia subtype resembling deficit schizophrenia identified by latent class analysis', Archives of General Psychiatry, 66 1058-1067 (2009) [C1]
DOI 10.1001/archgenpsychiatry.2009.136
Citations Scopus - 20
2009 Thara R, Tirupati S, John S, Nancarrow D, Chant D, Holliday E, Mowry B, 'Design and clinical characteristics of a homogeneous schizophrenia pedigree sample from Tamil Nadu, India', Australian and New Zealand Journal of Psychiatry, 43 561-570 (2009) [C1]
DOI 10.1080/00048670902873631
Citations Scopus - 3Web of Science - 3
2009 Psychiatric Gwas Consortium CC, Holliday EG, Cichon S, Craddock N, Daly M, Faraone S, et al., 'Genomewide association studies: history, rationale, and prospects for psychiatric disorders', American Journal of Psychiatry, 166 540-546 (2009) [C1]
Citations Scopus - 271
2009 Jones AL, Holliday EG, Mowry BJ, McLean DE, McGrath JJ, Pender MP, Greer JM, 'CTLA-4 single-nucleotide polymorphisms in a Caucasian population with schizophrenia', Brain Behavior and Immunity, 23 347-350 (2009) [C1]
DOI 10.1016/j.bbi.2008.09.008
Citations Scopus - 8Web of Science - 8
2008 Holliday EG, Mowry BJ, Nyholt DR, 'A reanalysis of 409 European-ancestry and African American schizophrenia pedigrees reveals significant linkage to 8p23.3 with evidence of locus heterogeneity', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147 1080-1088 (2008) [C1]
DOI 10.1002/ajmg.b.30722
Citations Scopus - 5
2008 Holliday EG, 'Strong evidence for a novel schizophrenia risk locus on chromosome 1p31.1 in homogeneous pedigrees from Tamil Nadu, India (American Journal of Psychiatry (2008) DOI: 10.1176/appi.ajp.2008.08030442)', American Journal of Psychiatry, 165 1614 (2008)
DOI 10.1176/appi.ajp.2008.08071109
2006 Handoko HY, James MR, McGrath JJ, Nertney DA, Tirupati S, Thara R, et al., 'Association study of the dystrobrevin-binding gene with schizophrenia in Australian and Indian samples', Twin Research and Human Genetics, 9 531-539 (2006) [C1]
DOI 10.1375/183242706778025035
Citations Scopus - 19Web of Science - 16
2005 Holliday EG, Mowry B, Chant D, Nyholt D, 'The importance of modelling heterogeneity in complex disease: Application to NIMH Schizophrenia Genetics Initiative data', Human Genetics, 117 160-167 (2005) [C1]
DOI 10.1007/s00439-005-1282-3
Citations Scopus - 7
Okbay A, Beauchamp JP, Fontana MA, Lee JJ, Pers TH, Rietveld CA, et al., 'Genome-wide association study identifies 74 loci associated with educational attainment.', Nature, 533 539-542
DOI 10.1038/nature17671
Citations Scopus - 39Web of Science - 29
Co-authors John Attia, Christopher Oldmeadow, Rodney Scott
Show 116 more journal articles

Conference (19 outputs)

Year Citation Altmetrics Link
2016 Biswas M, Daneshi N, Dias T, Rasiah R, Mate K, Holliday E, et al., 'Prevalence of drug and gene interactions for cardiovascular drugs in older Australians' (2016)
Co-authors Rohan Rasiah, Liz Milward, Karen Kerr, David Newby, John Attia, Karen Mate
2016 Maguire JM, Holliday E, Levi C, Attia J, Koblar S, Sturm J, et al., 'Helping stroke physicians choose who to thrombolyse -Targeting Optimal Thrombolysis Outcomes" -Preliminary data.', Neurology genetics (2016)
Co-authors Lisa Lincz, Christopher Levi, John Attia, Jane Maguire
2015 Daneshi N, Graham M, Holliday E, Schneider J, Kerr KP, Rasiah R, et al., 'Clinically actionable pharmacogenomic variants in community-dwelling older Australians.', ASMR XXIII NSW Scientific Meeting: Programme and Abstracts (2015) [E3]
Co-authors Rohan Rasiah, Liz Milward, Jennifer Schneider, Karen Kerr, John Attia, Rodney Scott
2015 Biswas M, Daneshi N, Rasiah R, Mate K, Holliday E, Attia J, et al., 'Prevalence of cytochrome P450 (CYP) substrate-inhibitor interactions in patients on clopidogrel and frequency of CYP2C19*2 gene variants', Australasian Pharmaceutical Science Association (APSA)- Australasian Society of Clinical and Experimental Pharmacologists and Toxicologists (ASCEPT) Joint Scientific Meeting. Book of Poster Abstracts (2015) [E3]
Co-authors Rohan Rasiah, Liz Milward, Karen Kerr, John Attia, Karen Mate
2015 Bolton KA, Holliday EG, McEvoy M, Attia J, Proietto A, Otton G, et al., 'A novel short tandem repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is potentially involved in cancer risk' (2015)
Co-authors Rodney Scott, Nikola Bowden, John Attia
2014 Bolton KA, Ross JP, Grice DM, Bowden NA, Holliday EG, Kiejda KA, Scott RJ, 'Short tandem repeats are variable genetic elements that may have major consequences for multiple diseases.', The Australian Society for Medical Research (ASMR) Satellite Scientific Meeting Programme (2014) [E3]
Co-authors Rodney Scott, Nikola Bowden, Kelly Kiejda
2014 Mather KA, Thalamuthu A, Oldmeadow C, Song F, Armstrong NJ, Poljak A, et al., 'Genome-wide significant results identified for plasma apolipoprotein h levels', Alzheimer's & Dementia (2014) [E3]
DOI 10.1016/j.jalz.2014.05.1526
Co-authors John Attia, Mark Mcevoy, Christopher Oldmeadow, Peter Schofield, Rodney Scott
2014 Chouraki VA, Jakobsdottir J, Mather K, Adams H, Mollon J, Oldmeadow C, et al., 'A genome-wide meta-analysis of plasma clusterin levels in the charge consortium', Alzheimer's & Dementia (2014) [E3]
DOI 10.1016/j.jalz.2014.05.1159
Co-authors Christopher Oldmeadow, Rodney Scott, John Attia
2014 Bolton KA, Holliday EG, Bowden NA, Avery-Kiejda KA, Scott RJ, 'A highly polymorphic AG repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is a modifier of disease risk in endometrial cancer', EUROPEAN JOURNAL OF CANCER (2014) [E3]
Co-authors Nikola Bowden, Rodney Scott, Kelly Kiejda
2014 Bolton KA, Holliday EG, McEvoy M, Attia J, Proietto A, Otton G, et al., 'A highly polymorphic AG repeat in the upstream regulatory region of the estrogen gene EIG121 is a potential modifier of endometrial cancer risk.', Asia-Pacific Journal of Clinical Oncology (2014) [E3]
DOI 10.1111/ajco.12335
Co-authors Nikola Bowden, Rodney Scott, Kelly Kiejda, John Attia, Mark Mcevoy
2013 Bolton KA, Ross J, Grice DM, Avery-Kiejda KA, Bowden NA, Holliday EG, Scott RJ, 'Role of Short Tandem Repeats in Disease and Evolutionary Mechanisms.', 34th Lorne Genome Conference Proceedings (2013) [E3]
Co-authors Rodney Scott, Kelly Kiejda, Nikola Bowden
2013 Bolton KA, Avery-Kiejda KA, Grice DM, Holliday EG, Bowden NA, Ross J, Scott RJ, 'STaRRRT: Our new resource for identifying candidates of genetic risk in breast and endometrial cancer.', Translational Cancer Research Conference Abstract booklet (2013) [E3]
Co-authors Nikola Bowden, Kelly Kiejda, Rodney Scott
2013 Thomas J, Parsons O, Traylor M, Li L, Bevan S, Sudlow C, et al., 'The impact of CCS and TOAST classification systems on genetic associations with ischaemic stroke', INTERNATIONAL JOURNAL OF STROKE (2013) [E3]
Co-authors John Attia, Christopher Levi
2013 Nyholt DR, Low S-K, Anderson CA, Painter JN, Uno S, Morris AP, et al., 'Meta-Analysis of GWA Studies Identifies New Endometriosis Risk Loci', REPRODUCTIVE SCIENCES (2013) [E3]
Co-authors Mark Mcevoy, John Attia, Rodney Scott
2012 Bolton KA, Ross J, Grice DM, Kiejda KA, Bowden NA, Holliday EG, Scott R, 'Potential role of short tandem repeats in disease processes', Abstracts. 6th Australian Health & Medical Research Congress (2012) [E3]
Co-authors Rodney Scott, Nikola Bowden, Kelly Kiejda
2012 Talseth-Palmer B, Holliday EG, Evans T-J, McEvoy MA, Attia JR, Grice DM, et al., 'A genome-wide CNV association study of Australian HNPCC/Lynch syndrome patients', Proceedings of the Australian Health & Medical Research Congress 2012 (2012) [E3]
Co-authors Bente Talseth-Palmer, Mark Mcevoy, John Attia, Rodney Scott
2011 Maguire JM, Holliday EG, Sturm J, Golledge J, Lewis M, Koblar S, et al., 'Australian stroke genetics collaborative: Genetic associations with ischaemic stroke functional outcome', International Journal of Stroke (2011) [E3]
Co-authors Mark Parsons, Christopher Levi, Lisa Lincz, Jane Maguire, Pablo Moscato, John Attia, Rodney Scott
2010 Talseth-Palmer B, Holliday EG, Evans T-J, McPhillips M, Groombridge C, Spigelman AD, Scott R, 'Modifier genes influencing breast cancer incidence in HNPCC/Lynch syndrome', AMATA 2010 Conference: Conference Handbook (2010) [E3]
Co-authors Bente Talseth-Palmer, Rodney Scott
2010 Talseth-Palmer B, Holliday EG, Evans T-J, McPhillips M, McEvoy MA, Attia JR, Scott R, 'A modern approach to the search for modifying genetic loci infleuncing the high breast cancer incidence seen in an Australian HNPCC/Lynch Syndrome cohort', Proceedings of the Australian Health and Medical Research Congress 2010 (2010) [E3]
Co-authors Mark Mcevoy, Bente Talseth-Palmer, John Attia, Rodney Scott
Show 16 more conferences
Edit

Grants and Funding

Summary

Number of grants 20
Total funding $2,745,262

Click on a grant title below to expand the full details for that specific grant.


20171 grants / $190,609

Improving understanding of Sleep, Physical Activity & Diet as CVD risk factors: combining evidence from intervention and epidemiological studies$190,609

Funding body: National Heart Foundation of Australia

Funding body National Heart Foundation of Australia
Project Team Associate Professor Mitch Duncan, Professor Nicholas Glozier, Professor Ronald Plotnikoff, Associate Professor Emmanuel Stamatakis, Dr Gregory Kolt, Doctor Liz Holliday, Associate Professor Mark McEvoy, Emeritus Professor Michael Hensley, Professor Clare Collins, Professor Philip Morgan, Associate Professor Comeel Vandelanotte, Professor Wendy Brown
Scheme NSW Cardiovascular Research Network Research Development Project Grant
Role Investigator
Funding Start 2017
Funding Finish 2018
GNo G1600996
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

20161 grants / $7,930

2016 International Visitor from University of Cambridge United Kingdom$7,930

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Doctor Liz Holliday, Professor Hugh Markus
Scheme International Research Visiting Fellowship
Role Lead
Funding Start 2016
Funding Finish 2016
GNo G1501019
Type Of Funding Internal
Category INTE
UON Y

20151 grants / $1,069,514

Helping stroke physicians choose who to thrombolyse - the "Targeting Optimal Thrombolysis Outcomes" (TOTO) study$1,069,514

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Doctor Liz Holliday, Associate Professor Jane Maguire, Associate Professor Vincent Thijs, Dr Simon Koblar, Conjoint Associate Professor Jonathan Sturm, Professor John Attia, Doctor Lisa Lincz, Doctor Andrew Bivard
Scheme Project Grant
Role Lead
Funding Start 2015
Funding Finish 2019
GNo G1400237
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

20144 grants / $565,000

A comprehensive research program designed to identify genetic causes and associated biological processes underlying ischaemic stroke$390,000

Funding body: National Heart Foundation of Australia

Funding body National Heart Foundation of Australia
Project Team

Doctor Liz Holliday

Scheme Future Leader Fellowship
Role Lead
Funding Start 2014
Funding Finish 2018
GNo
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON N

A comprehensive research program designed to identify genetic causes and associated biological processes underlying ischaemic stroke$130,000

Funding body: National Heart Foundation of Australia

Funding body National Heart Foundation of Australia
Project Team Doctor Liz Holliday
Scheme Future Leader Fellowship
Role Lead
Funding Start 2014
Funding Finish 2018
GNo G1300632
Type Of Funding Aust Competitive - Non Commonwealth
Category 1NS
UON Y

Biological characterisation of genetic associations for large artery atherosclerotic stroke$25,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Liz Holliday, Laureate Professor Rodney Scott, Conjoint Professor Chris Levi, Professor John Attia, Associate Professor Jane Maguire
Scheme Stroke Research Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1301340
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

Dietary iron during pregnancy: finding the right balance$20,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Alexis Hure, Doctor Amanda Patterson, Doctor Liz Holliday, Professor Deb Loxton, Dr Amina Khambalia
Scheme Project Grant
Role Investigator
Funding Start 2014
Funding Finish 2014
GNo G1401399
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

20134 grants / $145,000

A genome wide association study on childhood brain tumours$115,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Laureate Professor Rodney Scott, Doctor Frank Alvaro, Miss TIFFANY Evans, Professor John Attia, Doctor Liz Holliday, Dr Elizabeth Milne, Professor Bruce Armstrong
Scheme Research Grant
Role Investigator
Funding Start 2013
Funding Finish 2015
GNo G1301149
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$10,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Conjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Dr Simon Koblar, Laureate Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Associate Professor Jane Maguire
Scheme Near Miss Grant
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300475
Type Of Funding Internal
Category INTE
UON Y

Discovery and validation of genetic associations with ischaemic stroke$10,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Doctor Liz Holliday
Scheme Early Career Researcher Grant
Role Lead
Funding Start 2013
Funding Finish 2013
GNo G1300602
Type Of Funding Internal
Category INTE
UON Y

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$10,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Conjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Dr Simon Koblar, Laureate Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Associate Professor Jonathan Rosand, Doctor Lisa Lincz, Associate Professor Jane Maguire
Scheme Near Miss
Role Investigator
Funding Start 2013
Funding Finish 2013
GNo G1300704
Type Of Funding Grant - Aust Non Government
Category 3AFG
UON Y

20123 grants / $240,209

Interplay of genetic and environmental factors on age-related cataract development$210,209

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team

Wang JJ, Iyengar S, Rochtchina E, Ying TY, Klein B, Tan AG, Scott RJ, Holliday EG

Scheme Project Grant
Role Investigator
Funding Start 2012
Funding Finish 2014
GNo
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON N

The genetic determinants of brain haemorrhage associated with stroke thrombolysis$20,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Conjoint Professor Chris Levi, Professor John Attia, Doctor Liz Holliday, Laureate Professor Rodney Scott, Conjoint Associate Professor Jonathan Sturm, Doctor Lisa Lincz
Scheme Near Miss Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200675
Type Of Funding Internal
Category INTE
UON Y

Revealing cancer complexity - identification of Lynch syndrome cases$10,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Doctor Bente Talseth-Palmer, Laureate Professor Rodney Scott, Doctor Liz Holliday
Scheme Early Career Researcher Grant
Role Investigator
Funding Start 2012
Funding Finish 2012
GNo G1200519
Type Of Funding Internal
Category INTE
UON Y

20111 grants / $4,000

HMRI Education Prize$4,000

Funding body: Hunter Medical Research Institute

Funding body Hunter Medical Research Institute
Project Team Doctor Liz Holliday
Scheme PULSE Education Prize
Role Lead
Funding Start 2011
Funding Finish 2011
GNo G1101187
Type Of Funding Scheme excluded from IGS
Category EXCL
UON Y

20102 grants / $288,000

Integrating genome-wide association, gene expression and DNA sequence data to identify risk variants for complex disease$285,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team Doctor Liz Holliday
Scheme Early Career Fellowships
Role Lead
Funding Start 2010
Funding Finish 2013
GNo G0190305
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON Y

Integrating genome-wide association, gene expression and DNA sequence data to identify risk variations for complex disease$3,000

Funding body: University of Newcastle

Funding body University of Newcastle
Project Team Doctor Liz Holliday
Scheme New Staff Grant
Role Lead
Funding Start 2010
Funding Finish 2010
GNo G1000072
Type Of Funding Internal
Category INTE
UON Y

20081 grants / $160,000

Gladys M. Brawn Memorial Postdoctoral Fellowship$160,000

Funding body: The University of Newcastle

Funding body The University of Newcastle
Project Team

Holliday EG

Scheme Gladys M. Brawn Postdoctoral Fellowship
Role Lead
Funding Start 2008
Funding Finish 2009
GNo
Type Of Funding Internal
Category INTE
UON N

20051 grants / $45,000

NHMRC Public Health Postgraduate Scholarship$45,000

Funding body: NHMRC (National Health & Medical Research Council)

Funding body NHMRC (National Health & Medical Research Council)
Project Team

Holliday EG

Scheme Dora Lush Postgraduate Research Scholarship
Role Lead
Funding Start 2005
Funding Finish 2007
GNo
Type Of Funding Aust Competitive - Commonwealth
Category 1CS
UON N

20041 grants / $30,000

Postgraduate scholarship top-up$30,000

Funding body: The University of Queensland

Funding body The University of Queensland
Project Team

Holliday EG

Scheme Scholarship
Role Lead
Funding Start 2004
Funding Finish 2007
GNo
Type Of Funding Internal
Category INTE
UON N
Edit

Research Supervision

Number of supervisions

Completed1
Current1

Total current UON EFTSL

PhD0.15

Current Supervision

Commenced Level of Study Research Title Program Supervisor Type
2012 PhD Genetic and Non-Genetic Studies of Type 2 Diabetes in Three Susceptible Asian Populations: Malay, Chinese and Indian PhD (Medical Genetics), Faculty of Health and Medicine, The University of Newcastle Principal Supervisor

Past Supervision

Year Level of Study Research Title Program Supervisor Type
2016 PhD The Role of Short Tandem Repeats in Genetic Susceptibility to Breast and Endometrial Cancers PhD (Medical Genetics), Faculty of Health and Medicine, The University of Newcastle Co-Supervisor
Edit

Research Collaborations

The map is a representation of a researchers co-authorship with collaborators across the globe. The map displays the number of publications against a country, where there is at least one co-author based in that country. Data is sourced from the University of Newcastle research publication management system (NURO) and may not fully represent the authors complete body of work.

Country Count of Publications
Australia 120
United States 77
United Kingdom 76
Germany 59
Netherlands 53
More...
Edit

News

sleep

sleep linked to diabetes

December 12, 2013

Getting less than six hours sleep each night (compared to seven hours) may increase type 2 diabetes risk by 30 per cent but has less impact on heart disease than previously thought, researchers from the University of Newcastle have found.

Liz Holliday

Heart Foundation Fellowship

November 21, 2013

HMRI genetic statistician Dr Elizabeth Holliday has received a prestigious leadership fellowship from the Australian Heart Foundation to expand her international research work in determining the genetic causes of ischaemic stroke.

HMRI

New study shows genetic role in education

May 31, 2013

A multinational consortium of medical researchers and social scientists has found a link between educational attainment and tiny variations in a person's genetic sequence.

Dr Liz Holliday

Position

Senior Lecturer
Clinical Research Design, IT and Statistical Support Unit
School of Medicine and Public Health
Faculty of Health and Medicine

Contact Details

Email liz.holliday@newcastle.edu.au
Phone (02) 4042 0508
Fax (02) 4042 0039

Office

Room CReDITSS - HMRI
Building Hunter Medical Research Institute
Location John Hunter Hospital

,
Edit