Eleftheria Zeggini

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study
    Eleftheria Zeggini
    Wellcome Trust Sanger Institute, Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
    Lancet 380:815-23. 2012
  2. pmc Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis
    John Bowes
    Arthritis Research UK, Epidemiology Unit, University of Manchester, Manchester, UK
    Hum Genet 128:627-33. 2010
  3. pmc Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
    L Southam
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetologia 52:1846-51. 2009
  4. pmc Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes
    Vesna Boraska
    Department of Medical Biology, University of Split School of Medicine, Split, Croatia
    BMC Med Genet 11:69. 2010
  5. pmc CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies
    Robert Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    BMC Bioinformatics 11:527. 2010
  6. pmc Next-generation association studies for complex traits
    Eleftheria Zeggini
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:287-8. 2011
  7. ncbi request reprint The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults
    Minal Desai
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1890-4. 2006
  8. ncbi request reprint Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1884-9. 2006
  9. pmc Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
    Nicholas J Timpson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:505-10. 2009
  10. pmc A powerful approach to sub-phenotype analysis in population-based genetic association studies
    Andrew P Morris
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genet Epidemiol 34:335-43. 2010

Detail Information

Publications68

  1. pmc Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study
    Eleftheria Zeggini
    Wellcome Trust Sanger Institute, Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK
    Lancet 380:815-23. 2012
    ..Osteoarthritis has a strong genetic component but the success of previous genetic studies has been restricted due to insufficient sample sizes and phenotype heterogeneity...
  2. pmc Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis
    John Bowes
    Arthritis Research UK, Epidemiology Unit, University of Manchester, Manchester, UK
    Hum Genet 128:627-33. 2010
    ....
  3. pmc Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
    L Southam
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetologia 52:1846-51. 2009
    ....
  4. pmc Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes
    Vesna Boraska
    Department of Medical Biology, University of Split School of Medicine, Split, Croatia
    BMC Med Genet 11:69. 2010
    ..The purpose of this study is to examine T2D association of tag SNPs in the TNF/LTA region capturing the majority of common variation in a large-scale sample set of UK/Irish origin...
  5. pmc CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies
    Robert Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    BMC Bioinformatics 11:527. 2010
    ....
  6. pmc Next-generation association studies for complex traits
    Eleftheria Zeggini
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Nat Genet 43:287-8. 2011
    ..This strategy is poised to help elucidate the role of variants at the low end of the allele frequency spectrum in the genetic architecture of complex traits...
  7. ncbi request reprint The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults
    Minal Desai
    Diabetes Research Laboratories, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1890-4. 2006
    ..In conclusion, differences in VNTR-encoded susceptibility do not explain the differences in clinical presentation that distinguish classical type 1 diabetes and LADA...
  8. ncbi request reprint Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate
    Christopher J Groves
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 55:1884-9. 2006
    ....
  9. pmc Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data
    Nicholas J Timpson
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:505-10. 2009
    ..This study examined how differences in the BMI distribution of type 2 diabetic case subjects affected genome-wide patterns of type 2 diabetes association and considered the implications for the etiological heterogeneity of type 2 diabetes...
  10. pmc A powerful approach to sub-phenotype analysis in population-based genetic association studies
    Andrew P Morris
    The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
    Genet Epidemiol 34:335-43. 2010
    ....
  11. pmc Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility
    Anne Barton
    ARC Epidemiology Unit, Stopford Building, The University of Manchester, Manchester, UK
    Hum Mol Genet 17:2274-9. 2008
    ..The effect sizes are less than those reported previously but are likely to be a more accurate reflection of the true effect size given the larger size of the cohort investigated in the current study...
  12. ncbi request reprint A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritis
    Rachelle Donn
    Arthritis Research Campaign Epidemiology Unit, University of Manchester, Stopford Building, Oxford Road, Manchester M13 9PT, UK
    Arthritis Rheum 50:1604-10. 2004
    ..To establish linkage and replicate the association of macrophage migration inhibitory factor (MIF) with juvenile idiopathic arthritis (JIA)...
  13. pmc Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 40:638-45. 2008
    ..1 x 10(-9)), ADAMTS9 (P = 1.2 x 10(-8)) and NOTCH2 (P = 4.1 x 10(-8)) gene regions. Our results illustrate the value of large discovery and follow-up samples for gaining further insights into the inherited basis of T2D...
  14. pmc Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q
    Inga Prokopenko
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Diabetes 58:1704-9. 2009
    ..We performed common variant fine-mapping across a 23-Mb interval in a multiethnic sample to search for variants responsible for this linkage signal...
  15. pmc Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition
    Eleftheria Zeggini
    Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK
    BMC Genet 6:21. 2005
    ..5 kb, we constructed haplotype block maps using published methods and additional methods we have developed. Haplotype tagging SNPs (htSNPs) were identified for each map...
  16. ncbi request reprint Evidence for a novel rheumatoid arthritis susceptibility locus on chromosome 6p
    William Brintnell
    University of Manchester, Manchester, UK
    Arthritis Rheum 50:3823-30. 2004
    ..To investigate whether the large linkage peak on chromosome 6p harbors rheumatoid arthritis (RA) susceptibility loci in addition to the well-characterized HLA-DRB1 gene...
  17. pmc Examining the statistical properties of fine-scale mapping in large-scale association studies
    Steven Wiltshire
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    Genet Epidemiol 32:204-14. 2008
    ..Our findings help inform the interpretation and design of dense SNP-mapping follow-up studies, thus facilitating discrimination between a genuine genetic effect and chance fluctuation (false positive)...
  18. ncbi request reprint Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritis
    Rachelle Donn
    Epidemiology Unit, Arthritis Research Campaign, University of Manchester, Manchester, UK
    Arthritis Rheum 46:2402-9. 2002
    ..To determine if polymorphisms of the macrophage migration inhibitory factor (MIF) gene are associated with juvenile idiopathic arthritis (JIA)...
  19. ncbi request reprint An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Nat Genet 37:1320-2. 2005
    ....
  20. pmc An evaluation of statistical approaches to rare variant analysis in genetic association studies
    Andrew P Morris
    Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
    Genet Epidemiol 34:188-93. 2010
    ....
  21. ncbi request reprint MCP-1 gene haplotype association in biopsy proven giant cell arteritis
    Mahsa M Amoli
    Centre for Integrated Genomic Medical Research, School of Epidemiology and Health Sciences, The University of Manchester, Manchester, UK
    J Rheumatol 32:507-10. 2005
    ..To investigate the clinical implication of MCP-1 polymorphisms in GCA, we examined the association of 3 single nucleotide polymorphisms (SNP) in a series of patients with GCA from Northwest Spain...
  22. pmc Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites
    Sally John
    University of Manchester, Manchester, United Kingdom
    Am J Hum Genet 75:54-64. 2004
    ..The high SNP density allows loci to be defined more precisely and provides a partial scaffold for association studies, substantially reducing the resource requirement for gene-mapping studies...
  23. pmc A variant in MCF2L is associated with osteoarthritis
    Aaron G Day-Williams
    Wellcome Trust Sanger Institute, Hinxton, UK
    Am J Hum Genet 89:446-50. 2011
    ..MCF2L regulates a nerve growth factor (NGF), and treatment with a humanized monoclonal antibody against NGF is associated with reduction in pain and improvement in function for knee OA patients...
  24. pmc Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13
    Anne Barton
    Arthritis Research Campaign, Epidemiology Unit, The University of Manchester, Manchester, UK
    Nat Genet 40:1156-9. 2008
    ....
  25. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  26. ncbi request reprint Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels
    Thomas M Barber
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Eur J Hum Genet 15:679-84. 2007
    ..In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on PCOS susceptibility, though modest effect sizes (OR<1.25) cannot be excluded...
  27. ncbi request reprint Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK
    Diabetes 55:2541-8. 2006
    ..These data exclude USF1 as a major contributor to type 2 diabetes susceptibility and the basis for the chromosome 1q linkage. They reveal only limited evidence for replication of USF1 effects on continuous metabolic traits...
  28. pmc Genome-wide association scan allowing for epistasis in type 2 diabetes
    Jordana T Bell
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Ann Hum Genet 75:10-9. 2011
    ..Our results demonstrate the feasibility of systematic scans in GWA data, but confirm that single-locus association can underlie and obscure multilocus findings...
  29. pmc GLIDERS--a web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs
    Robert Lawrence
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    BMC Bioinformatics 10:367. 2009
    ..3 across the human genome for any SNP genotyped within HapMap phase 2 and 3, regardless of distance between the markers...
  30. pmc Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts
    Vesna Boraska
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
    PLoS ONE 7:e31369. 2012
    ..Large-scale collaborations will be necessary to achieve higher power to detect loci underlying BC...
  31. pmc Defining the power limits of genome-wide association scan meta-analyses
    Kay Chapman
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford, United Kingdom
    Genet Epidemiol 35:781-9. 2011
    ....
  32. ncbi request reprint Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritis
    Mahsa M Amoli
    Centre for Integrated Genomic Medical Research, School of Epidemiology and Health Sciences, University of Manchester, Manchester, United Kingdom
    J Rheumatol 31:2413-7. 2004
    ..To assess the roles of the interleukin 4 (IL-4) and interferon-g (IFN-g) gene polymorphisms in a series of patients with biopsy-proven giant cell arteritis (GCA)...
  33. pmc Will the real disease gene please stand up?
    Neil Shephard
    Epidemiology Unit, University of Manchester, Manchester, UK
    BMC Genet 6:S66. 2005
    ..Performing a comprehensive assay of all markers in a large, well-powered dataset appears to be the most effective strategy for complex disease gene identification...
  34. pmc Variants in MTNR1B influence fasting glucose levels
    Inga Prokopenko
    1 Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford OX3 7LJ, UK 2 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK 3 These authors contributed equally to this work
    Nat Genet 41:77-81. 2009
    ..Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci...
  35. ncbi request reprint Genome-wide association scans for Type 2 diabetes: new insights into biology and therapy
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
    Trends Pharmacol Sci 28:598-601. 2007
    ..Here, we provide an overview of the main recent findings and discuss their significance in providing biological insights and their translational implications...
  36. ncbi request reprint Identifying susceptibility variants for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK
    Methods Mol Biol 376:235-50. 2007
    ....
  37. pmc Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies
    Katherine S Elliott
    Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
    PLoS ONE 5:e10858. 2010
    ..We aimed to identify whether these variants may have an effect on cancer risk in general versus a specific effect on prostate cancer only...
  38. ncbi request reprint Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis
    Eleftheria Zeggini
    Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester, UK
    Arthritis Rheum 46:3304-11. 2002
    ..The aim of this study was to examine the association of multiple TNF SNPs with juvenile oligoarthritis and to construct and analyze SNP-tagged TNF haplotypes...
  39. ncbi request reprint Evidence for linkage of HLA loci in juvenile idiopathic oligoarthritis: independent effects of HLA-A and HLA-DRB1
    Eleftheria Zeggini
    Arthritis Research Campaign Epidemiology Unit, University of Manchester, Stopford Building, Oxford Road, Manchester M13 9PT, UK
    Arthritis Rheum 46:2716-20. 2002
    ..The aim of this study was to investigate linkage of HLA-A, B, and DRB1 in UK Caucasian JIA patients with oligoarthritis...
  40. pmc Genome-wide meta-analysis of common variant differences between men and women
    Vesna Boraska
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Hum Mol Genet 21:4805-15. 2012
    ..The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits...
  41. pmc An evaluation of different meta-analysis approaches in the presence of allelic heterogeneity
    Jennifer Asimit
    Department of Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK
    Eur J Hum Genet 20:709-12. 2012
    ..We conclude that current strategies for the combination of genetic association data in the presence of allelic heterogeneity are insufficiently powered...
  42. pmc ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data
    Jennifer L Asimit
    Wellcome Trust Sanger Institute, Hinxton, UK
    Hum Hered 73:84-94. 2012
    ..Here, we propose two locus-based methods that incorporate variant quality scores: a regression-based collapsing approach and an allele-matching method...
  43. pmc Linkage analysis of cross-sectional and longitudinally derived phenotypic measures to identify loci influencing blood pressure
    Neil Shephard
    ARC Epidemiology Unit, University of Manchester, Manchester, United Kingdom
    BMC Genet 4:S26. 2003
    ....
  44. doi request reprint Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes
    Qasim Ayub
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1HH, UK
    Am J Hum Genet 94:176-85. 2014
    ..Overall, we conclude that past positive selection has not been a powerful influence driving the prevalence of T2D risk alleles. ..
  45. doi request reprint A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates
    Ioanna Tachmazidou
    Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
    Nat Commun 4:2872. 2013
    ..This work exemplifies the value of isolated populations in successfully detecting transferable rare variant associations of high medical relevance...
  46. pmc Rare variant association testing for next-generation sequencing data via hierarchical clustering
    Ioanna Tachmazidou
    Wellcome Trust Sanger Institute, Hinxton, UK
    Hum Hered 74:165-71. 2012
    ....
  47. pmc Finding common susceptibility variants for complex disease: past, present and future
    Kalliope Panoutsopoulou
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Brief Funct Genomic Proteomic 8:345-52. 2009
    ..In this review, we summarize insights gained from the past, highlight practical issues relating to the design and analysis of current state-of-the-art GWA studies and look into future trends in the field of human complex trait genetics...
  48. doi request reprint Do genome-wide association scans have potential for translation?
    Margarida C Lopes
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Clin Chem Lab Med 50:255-60. 2012
    ..The biological insights afforded by newly-identified robust associations represent the largest, albeit indirect, translational contribution of GWAS...
  49. pmc An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies
    Aaron G Day-Williams
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom
    PLoS ONE 6:e26279. 2011
    ....
  50. pmc Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor
    Maria Ban
    Department of Clinical Neuroscience, Addenbrooke s, Hospital, University of Cambridge, Cambridge, UK
    Eur J Hum Genet 17:1309-13. 2009
    ....
  51. ncbi request reprint Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits
    Brenda L Powell
    Wellcome Trust Centre for Human Genetics, Oxford, United Kingdom
    J Clin Endocrinol Metab 90:2988-93. 2005
    ..Variation at the insulin gene VNTR (variable number tandem repeat) minisatellite has been reported to be associated with polycystic ovary syndrome (PCOS), but findings have been inconsistent and all studies have featured small sample sizes...
  52. ncbi request reprint Lack of association between juvenile idiopathic arthritis and fas gene polymorphism
    Rachelle Donn
    ARC Epidemiology Unit, University of Manchester, UK
    J Rheumatol 29:166-8. 2002
    ..We investigated whether a polymorphism in the Fas promoter region (-670) confers susceptibility to JIA...
  53. ncbi request reprint Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
    Diabetes 53:3319-22. 2004
    ....
  54. pmc Genome-wide association studies in type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK
    Curr Diab Rep 9:164-71. 2009
    ....
  55. pmc The effect of genome-wide association scan quality control on imputation outcome for common variants
    Lorraine Southam
    Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK
    Eur J Hum Genet 19:610-4. 2011
    ..A minority of common-frequency SNPs with particular properties cannot be accurately imputed regardless of QC stringency. These findings may not generalise to the imputation of low frequency and rare variants...
  56. pmc A combined functional annotation score for non-synonymous variants
    Margarida C Lopes
    Wellcome Trust Sanger Institute, Hinxton, Hinxton, UK
    Hum Hered 73:47-51. 2012
    ....
  57. pmc The effect of next-generation sequencing technology on complex trait research
    Aaron G Day-Williams
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Eur J Clin Invest 41:561-7. 2011
    ..Advances in the understanding of complex trait genetics have always been enabled by advances in genomic technology. Next-generation sequencing (NGS) is set to revolutionize the way complex trait genetics research is carried out...
  58. pmc Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies
    Ines Barroso
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Diabetes 57:3161-5. 2008
    ..We aimed to investigate whether data from a large-scale mapping approach would replicate this association in novel Ashkenazi samples and in U.K. populations and whether these data would allow us to refine the association signal...
  59. pmc Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits
    Vesna Boraska
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Am J Med Genet B Neuropsychiatr Genet 159:803-11. 2012
    ..Our study indicates that larger-scale collaborative studies will be needed to achieve the necessary power to detect loci underlying ED-related traits...
  60. ncbi request reprint Genetics of type 2 diabetes
    Mark I McCarthy
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital Campus, Old Road, Oxford OX3 7LJ, UK
    Curr Diab Rep 6:147-54. 2006
    ..The advent of genuinely genome-wide association scans and the prospects for combining genetics with high-throughput genomics are additional sources of optimism for the future...
  61. pmc Synthetic associations in the context of genome-wide association scan signals
    Gisela Orozco
    Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, UK
    Hum Mol Genet 19:R137-44. 2010
    ..In this review, we draw from empirical and theoretical data to summarize evidence showing that synthetic associations do not underlie many reported GWAS associations...
  62. pmc Synthetic associations are unlikely to account for many common disease genome-wide association signals
    Carl A Anderson
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1HH, United Kingdom
    PLoS Biol 9:e1000580. 2011
    ..Synthetic associations have been posited as a possible explanation for missing heritability in complex disease. We show several lines of evidence which suggest that, while possible, these synthetic associations are not common...
  63. pmc Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variants
    Andrew P Morris
    Genetic and Genomic Epidemiology Unit, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    BMC Proc 3:S131. 2009
    ..We apply our method to WGA SNP genotype data obtained from 868 RA cases and 1194 controls. Our results highlight novel putative RA susceptibility genes that have not previously been identified in large-scale WGA studies...
  64. pmc Advances in osteoarthritis genetics
    Kalliope Panoutsopoulou
    Department of Human Genetics, Wellcome Trust Sanger Institute, Cambridgeshire, UK
    J Med Genet 50:715-24. 2013
    ....
  65. pmc Testing for rare variant associations in complex diseases
    Jennifer Asimit
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1HH, UK
    Genome Med 1:24. 2009
    ..have presented an approach with the theoretical capacity to detect risk and protective variants. The identification of rare risk variants could have major implications in understanding complex disease etiopathogenesis...
  66. doi request reprint Imputation of rare variants in next-generation association studies
    Jennifer L Asimit
    Wellcome Trust Sanger Institute, Hinxton, UK
    Hum Hered 74:196-204. 2012
    ..Extensions to rare variant association tests to incorporate genotype uncertainty from imputation are discussed, as well as the use of imputed low-frequency and rare variants in the study of population isolates...
  67. pmc Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
    George F Mells
    Academic Department of Medical Genetics, Cambridge University, Cambridge, UK Department of Hepatology, Cambridge University Hospitals National Health Service NHS Foundation Trust, Cambridge, UK
    Nat Genet 43:329-32. 2011
    ..New candidate genes include STAT4, DENND1B, CD80, IL7R, CXCR5, TNFRSF1A, CLEC16A and NFKB1. This study has considerably expanded our knowledge of the genetic architecture of PBC...
  68. pmc Meta-analysis in genome-wide association studies
    Eleftheria Zeggini
    Wellcome Trust Centre for Human Genetics, University of Oxford, UK
    Pharmacogenomics 10:191-201. 2009
    ..Finally, we discuss the prospects and caveats for future application of meta-analysis methods in the genome-wide setting...