Research Topics
Genomes and Genes
| Eleftheria ZegginiSummaryAffiliation: University of Oxford Country: UK Publications
| Collaborators
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Detail Information
Publications
Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definitionEleftheria 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...- A new era for Type 2 diabetes geneticsE Zeggini
The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Diabet Med 24:1181-6. 2007 - Association of HLA-DRB1*13 with susceptibility to uveitis in juvenile idiopathic arthritis in two independent data setsE Zeggini
Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK
Rheumatology (Oxford) 45:972-4. 2006..JIA is a complex genetic trait with well-established HLA-DRB1 associations. The aim of this study was to investigate the involvement of HLA-DRB1 in JIA-associated uveitis... - An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data setsEleftheria Zeggini
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
Nat Genet 37:1320-2. 2005.... - Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritisE Zeggini
WTCHG, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
Rheumatology (Oxford) 43:1138-41. 2004..The objectives of this study were to investigate expression of DDR1 in healthy chondrocytes and to identify linkage and association of this candidate gene with juvenile oligoarthritis... - The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adultsMinal 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... - Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidateChristopher J Groves
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetes 55:1884-9. 2006.... - A powerful approach to sub-phenotype analysis in population-based genetic association studiesAndrew P Morris
The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, United Kingdom
Genet Epidemiol 34:335-43. 2010.... - Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association dataNicholas 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... - A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritisRachelle 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)... - Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibilityAnne 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... - Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetesEleftheria 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... - Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellitesSally 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... - Evidence for a novel rheumatoid arthritis susceptibility locus on chromosome 6pWilliam 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... - Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1qInga 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... - Examining the statistical properties of fine-scale mapping in large-scale association studiesSteven 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)... - MCP-1 gene haplotype association in biopsy proven giant cell arteritisMahsa 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... - Mutation screening of the macrophage migration inhibitory factor gene: positive association of a functional polymorphism of macrophage migration inhibitory factor with juvenile idiopathic arthritisRachelle 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)... - An evaluation of statistical approaches to rare variant analysis in genetic association studiesAndrew P Morris
Wellcome Trust Centre for Human Genetics, University of Oxford, United Kingdom
Genet Epidemiol 34:188-93. 2010.... - Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria 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... - Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levelsThomas M Barber
Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Old Road, Headington, Oxford, UK
Eur J Hum Genet 15:679-84. 2007..08). 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... - Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritisJohn Bowes
Arthritis Research UK, Epidemiology Unit, University of Manchester, Manchester, UK
Hum Genet 128:627-33. 2010.... - 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 1qEleftheria 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... - Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13Anne Barton
Arthritis Research Campaign, Epidemiology Unit, The University of Manchester, Manchester, UK
Nat Genet 40:1156-9. 2008.... - Genome-wide association scan allowing for epistasis in type 2 diabetesJordana 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... - Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritisEleftheria 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... - Epistatic interactions between HLA-DRB1 and interleukin 4, but not interferon-gamma, increase susceptibility to giant cell arteritisMahsa 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)... - CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studiesRobert Lawrence
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
BMC Bioinformatics 11:527. 2010.... - Linkage analysis of cross-sectional and longitudinally derived phenotypic measures to identify loci influencing blood pressureNeil Shephard
ARC Epidemiology Unit, University of Manchester, Manchester, United Kingdom
BMC Genet 4:S26. 2003.... - 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... - Variants in MTNR1B influence fasting glucose levelsInga 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... - Evidence for linkage of HLA loci in juvenile idiopathic oligoarthritis: independent effects of HLA-A and HLA-DRB1Eleftheria 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... - Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studiesKatherine 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... - Identifying susceptibility variants for type 2 diabetesEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, UK
Methods Mol Biol 376:235-50. 2007.... - Genome-wide association scans for Type 2 diabetes: new insights into biology and therapyMark 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... - Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onsetEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, UK
Diabetes 53:3319-22. 2004.... - GLIDERS--a web-based search engine for genome-wide linkage disequilibrium between HapMap SNPsRobert 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... - Lack of association between juvenile idiopathic arthritis and fas gene polymorphismRachelle 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... - Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjectsKatharine R Owen
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford OX3 7LJ, U K
Diabetes 56:879-83. 2007..However, in a meta-analysis including other available data, there is evidence that rs4641 has a modest effect on diabetes susceptibility (1.10 [1.04-1.16], P = 0.001)... - The effect of genome-wide association scan quality control on imputation outcome for common variantsLorraine 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... - Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traitsBrenda 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... - Genome-wide association studies in type 2 diabetesMark 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.... - Identification of novel putative rheumatoid arthritis susceptibility genes via analysis of rare variantsAndrew 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... - Synthetic associations in the context of genome-wide association scan signalsGisela 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... - Defining the power limits of genome-wide association scan meta-analysesKay Chapman
Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford, United Kingdom Botnar Research Centre, Institute of Musculoskeletal Sciences, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Windmill Road, Oxford, United Kingdom
Genet Epidemiol 35:781-9. 2011..Genet. Epidemiol. 2011. © 2011 Wiley Periodicals, Inc. 35:781-789, 2011... - Genetics of type 2 diabetesMark 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... - Meta-analysis in genome-wide association studiesEleftheria 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... - A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesityTimothy M Frayling
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter, UK
Science 316:889-94. 2007..67-fold increased odds of obesity when compared with those not inheriting a risk allele. This association was observed from age 7 years upward and reflects a specific increase in fat mass... - Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsPaul R Burton
Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
Nat Genet 39:1329-37. 2007.... - Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotypeAdam Stevens
Endocrine Sciences Research Group and Centre for Molecular Medicine, Arthritis Research Campaign Epidemiology Unit, University of Manchester, Manchester M13 9PT, United Kingdom
J Clin Endocrinol Metab 89:892-7. 2004..This haplotype may help predetermine variation in clinical response to GC therapy and also assist the understanding of diseases related to GC production... - Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMIRachel M Freathy
Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Rd, Exeter, EX1 2LU, UK
Diabetes 57:1419-26. 2008..Increased BMI is associated with diabetes risk factors, including raised insulin, glucose, and triglycerides. We aimed to test whether FTO genotype is associated with variation in these metabolic traits... - Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traitsWinston S Chu
Division of Endocrinology 111J 1 LR, Department of Medicine, University of Arkansas for Medical Sciences, John L McClellan Memorial Veterans Hospital, 4700 W 7th Street, Little Rock, AR 72205, USA
Diabetes 56:856-62. 2007..ATF6 does not appear to play a major role in type 2 diabetes, but further work is required to identify the cause of the allelic expression imbalance... - A common variant of HMGA2 is associated with adult and childhood height in the general populationMichael N Weedon
Genetics of Complex Traits, Institute of Biomedical and Clinical Science, Peninsula Medical School, Magdalen Road, Exeter EX1 2LU, UK
Nat Genet 39:1245-50. 2007..There are few examples of common genetic variants reproducibly associated with human quantitativetraits; these results represent, to our knowledge, the first consistently replicated association with adult and childhood height... - Combining information from common type 2 diabetes risk polymorphisms improves disease predictionMichael N Weedon
Department of Diabetes Research and Vascular Medicine, Peninsula Medical School, Exeter, United Kingdom
PLoS Med 3:e374. 2006..The value of analyzing multiple alleles simultaneously is not well studied. This is often because, for any given disease, very few common risk alleles have been confirmed... - Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's diseaseSheila A Fisher
Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
Nat Genet 40:710-2. 2008..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases... - Common variants near MC4R are associated with fat mass, weight and risk of obesityRuth J F Loos
MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Nat Genet 40:768-75. 2008.... - Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual riskChristopher J Groves
Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Headington, Oxford OX3 7LJ, UK
Diabetes 55:2640-4. 2006..4 x 10(-14) combining case-control and family-based analyses for rs4506565) exceeds genome-wide significance criteria and clearly establishes TCF7L2 as a type 2 diabetes susceptibility gene of substantial importance... - Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetesSwapan Kumar Das
Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA
Diabetes 55:2631-9. 2006..Our data suggest that sequences in or upstream of DUSP12 may contribute to type 2 diabetes susceptibility, but the lack of replication suggests a small effect size... - Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South CroatiaVesna Boraska
Department of Medical Biology, Medical School, University of Split, Split, Croatia
J Hum Genet 53:210-4. 2008..These results indicate a possible role of the VDR gene in T1DM aetiology. In conclusion, this family-based study presents some evidence of association of specific VDR gene variants with T1DM in the population of South Croatia... - Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell functionLaura Pascoe
Diabetes Research Group, Newcastle University, Newcastle upon Tyne, UK
Diabetes 56:3101-4. 2007..Our objective was to explore the relationships between the diabetes-associated alleles and measures of beta-cell function and whole-body insulin sensitivity...