Dr Liz Holliday

Dr Liz Holliday

Conjoint Associate Professor

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 a Senior Statistician in the Clinical Research Design, IT and Statistical Support (CReDITSS) Unit at the Hunter Medical Research Institute. In this role she provides epidemiological and statistical support and advice to clinical researchers.

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 about 100 peer-reviewed publications. She has both led and contributed to international genetic studies, resulting in discoveries published in Nature (x3), Nature Genetics (x10), Science (x1), 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
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 35
060408 Genomics 30
060412 Quantitative Genetics (incl. Disease and Trait Mapping Genetics) 35

Professional Experience

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
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Publications

For publications that are currently unpublished or in-press, details are shown in italics.


Chapter (4 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 Christopher Oldmeadow, Carlos Riveros, Rodney Scott, John Attia, Pablo Moscato
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 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 Christopher Oldmeadow, John Attia, Jane Maguire
Show 1 more chapter

Journal article (98 outputs)

Year Citation Altmetrics Link
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)
DOI 10.1161/STROKEAHA.115.011328
Co-authors Chris Levi
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.', Endocr Connect, 5 115-122 (2016)
DOI 10.1530/EC-16-0003
Co-authors Kelly Kiejda, Nikola Bowden, John Attia
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.', Fam Pract, (2016)
DOI 10.1093/fampra/cmw025
Co-authors Parker Magin
2016 Okbay A, Baselmans BM, De Neve JE, 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)
DOI 10.1038/ng.3552
Co-authors Christopher Oldmeadow, 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
Co-authors Rodney Scott, Mark Mcevoy, John Attia
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.', Sci Rep, 6 23675 (2016)
DOI 10.1038/srep23675
Co-authors Mark Mcevoy, Rodney Scott, Christopher Oldmeadow, Peter Schofield, John Attia
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.', Hum Mol Genet, 25 358-370 (2016)
DOI 10.1093/hmg/ddv454
Co-authors John Attia, Mark Mcevoy, Rodney Scott, Christopher Oldmeadow
2016 Cheng TH, 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)
DOI 10.1038/ng.3562
Citations Scopus - 1
Co-authors 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
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, (2016)
DOI 10.1093/hmg/ddw092
Co-authors Mark Mcevoy, John Attia
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)

© 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 - 2
Co-authors John Attia, Katie Ashton, Rodney Scott, Mark Mcevoy
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)

© 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 - 2
Co-authors John Attia, Christopher Oldmeadow, Rodney Scott, Peter Schofield
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
Co-authors Kelly Kiejda, John Attia, Nikola Bowden
2016 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 (2016)
DOI 10.1038/nature17671
Co-authors John Attia, Christopher Oldmeadow
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)
DOI 10.1212/WNL.0000000000002528
Co-authors Chris Levi, John Attia
2016 Traylor M, Rutten-Jacobs LC, 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)
DOI 10.1161/STROKEAHA.115.011625
Co-authors Chris Levi
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
Co-authors John Attia, Rodney Scott, Christopher Oldmeadow
2015 Cheng TH, 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 - 1
Co-authors Mark Mcevoy, John Attia, Katie Ashton, Rodney Scott
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 - 13Web of Science - 1
Co-authors John Attia, Chris Levi
2015 NINDS Stroke Genetics Network (SiGN) and International Stroke Genetics Consortium (ISGC), Attia JR, Holliday E, 'Loci associated with ischaemic stroke and its subtypes (SiGN): A genome-wide association study', Lancet Neurology, 174-184 (2015)
DOI 10.1016/S1474-4422(15)00338-5
Co-authors Jane Maguire, John Attia
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 - 2
Co-authors Jane Maguire, Chris 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
Co-authors Mark Mcevoy, John Attia, Rodney Scott, Christopher Oldmeadow, Roseanne Peel
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 - 25Web of Science - 5
Co-authors John Attia, Christopher Oldmeadow, Peter Schofield, Rodney Scott
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 - 3Web of Science - 1
Co-authors Rodney Scott, Mark Mcevoy, John Attia
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 - 9Web of Science - 1
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 - 190Web of Science - 51
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 - 10
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 Chris 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 - 6Web of Science - 1
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
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, John Attia, Rodney Scott
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 - 2Web of Science - 2
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 - 7Web of Science - 1
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)

© 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
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 - 6Web of Science - 1
Co-authors Mark Mcevoy, Christopher Oldmeadow, Rodney Scott, John Attia, 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 - 1
Co-authors John Attia, Mark Mcevoy, Rodney Scott
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 - 7Web of Science - 1
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 - 3Web of Science - 1
Co-authors John Attia, Rodney Scott, Mark Mcevoy
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 - 7
Co-authors Christopher Oldmeadow, John Attia, Jane Maguire, Chris Levi, Lisa Lincz, Rodney Scott
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 - 8Web of Science - 4
Co-authors John Attia, Rodney Scott, 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 - 3
Co-authors Mark Mcevoy, Rodney Scott, Katie Ashton, John Attia
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 - 75Web of Science - 17
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 - 3
Co-authors Nicholas Talley
2014 Oldmeadow C, Mossman D, Evans TJ, 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 - 4Web of Science - 1
Co-authors Christopher Oldmeadow, Paul Tooney, Murray Cairns, John Attia, Rodney Scott
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 - 17
Co-authors Rodney Scott, John Attia
2014 Traylor M, Mäkelä KM, 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 - 8Web of Science - 7
Co-authors Chris Levi, Jane Maguire, John Attia
2014 Evans TJ, 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 - 4Web of Science - 2
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 - 4Web of Science - 2
Co-authors Roseanne Peel, Mark Mcevoy, Rodney Scott, John Attia, Nicholas Talley
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 - 25Web of Science - 17
Co-authors Chris Levi
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 - 17Web of Science - 8
Co-authors Chris 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 - 5Web of Science - 1
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 - 14Web of Science - 13
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 - 12Web of Science - 9
Co-authors Rodney Scott, John Attia, Mark Mcevoy
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 Chris 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 - 23Web of Science - 6
Co-authors Mark Mcevoy, Christopher Oldmeadow, John Attia, Roseanne Peel, Rodney Scott
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 - 19Web of Science - 14
Co-authors Christopher Oldmeadow, John Attia, Rodney Scott
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 - 1
Co-authors Chris Levi, John Attia, Mark Mcevoy, Rodney Scott, Christopher Oldmeadow, Jane Maguire
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
Co-authors Christopher Oldmeadow, Peter Schofield, Rodney Scott, John Attia, Mark Mcevoy
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 John Attia, Christopher Oldmeadow, Rodney Scott
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 Rodney Scott, John Attia, Christopher Oldmeadow
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 - 5Web of Science - 4
Co-authors Jane Maguire, John Attia, 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 - 20Web of Science - 15
Co-authors Jane Maguire, Chris Levi
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 - 23Web of Science - 16
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 - 9Web of Science - 5
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 - 32Web of Science - 24
Co-authors John Attia, Rodney Scott, Chris Levi
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 - 7Web of Science - 3
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 - 123Web of Science - 85
Co-authors Rodney Scott, John Attia, Christopher Oldmeadow
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 - 132Web of Science - 87
Co-authors Christopher Oldmeadow, Rodney Scott, John Attia
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 - 14Web of Science - 7
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 - 16Web of Science - 14
Co-authors John Attia, Rodney Scott
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 - 8Web of Science - 6
Co-authors Nikola Bowden, Rodney Scott, Kelly Kiejda
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 - 7Web of Science - 4
Co-authors Mark Mcevoy, Bente Talseth-Palmer, John Attia, Rodney Scott
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 - 27Web of Science - 13
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 - 3Web of Science - 2
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 John Attia, Rodney Scott
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 - 42Web of Science - 30
Co-authors John Attia, Rodney Scott
2013 Holliday EG, 'Hints of unique genetic effects for type 2 diabetes in India', Diabetes, 62 1369-1370 (2013) [C1]
Citations Scopus - 3Web of Science - 4
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 - 14Web of Science - 12
Co-authors Rodney Scott, Chris Levi, Pablo Moscato, Lisa Lincz, Jane Maguire, John Attia
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 - 151Web of Science - 105
Co-authors Chris Levi, John Attia
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 - 77Web of Science - 54
Co-authors Rodney Scott, John Attia, Mark Mcevoy
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 - 64Web of Science - 54
Co-authors Lisa Lincz, Roseanne Peel, Jane Maguire, Wayne Smith, Mark Mcevoy, Rodney Scott, Mark Parsons, John Attia, Pablo Moscato, Chris Levi, Christopher Oldmeadow
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 - 61Web of Science - 46
Co-authors John Attia, Christopher Oldmeadow, Rodney Scott
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 - 24Web of Science - 17
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 - 139Web of Science - 107
Co-authors Chris Levi, Jane Maguire
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 - 53Web of Science - 47
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 - 18
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 - 6Web of Science - 5
Co-authors Pablo Moscato, John Attia, Christopher Oldmeadow, Carlos Riveros, Rodney Scott
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 - 105Web of Science - 82
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 - 63Web of Science - 54
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 - 2
Co-authors John Attia, Rodney Scott
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 - 11Web of Science - 9
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 - 17
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 - 267
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 - 7
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
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
Show 95 more journal articles

Conference (17 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 John Attia, Karen Kerr, Karen Mate, Liz Milward, David Newby, Rohan Rasiah
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 John Attia, Rodney Scott, Jennifer Schneider, Liz Milward, Karen Kerr, Rohan Rasiah
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, John Attia, Karen Mate, Karen Kerr, Liz Milward
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 Kelly Kiejda, Rodney Scott, Nikola Bowden
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 Rodney Scott, John Attia, Mark Mcevoy, Christopher Oldmeadow, Peter Schofield
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 Mark Mcevoy, John Attia, Kelly Kiejda, Nikola Bowden, Rodney Scott
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 Nikola Bowden, Kelly Kiejda, Rodney Scott
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 Rodney Scott, Kelly Kiejda, Nikola Bowden
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 Chris Levi, John Attia
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 John Attia, Rodney Scott, Mark Mcevoy
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 Nikola Bowden, Kelly Kiejda, Rodney Scott
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, John Attia, Chris Levi, Jane Maguire, Rodney Scott, Lisa Lincz, Pablo Moscato
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 Rodney Scott, Bente Talseth-Palmer
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 Rodney Scott, John Attia, Mark Mcevoy, Bente Talseth-Palmer
Show 14 more conferences
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Research Supervision

Number of supervisions

Completed0
Current2

Total current UON EFTSL

PhD0.35

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
2010 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
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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 99
United States 65
United Kingdom 62
Germany 48
Netherlands 44
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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

Conjoint Associate Professor
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

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