Eleftheria Zeggini | Group Leader

Zeggini, Eleftheria

Ele's work aims to help elucidate the genetic determinants of complex human traits by using next-generation association studies to identify novel disease loci.

 

Ele obtained a BSc in Biochemistry from the University of Manchester Institute of Science and Technology (UMIST) in 1999 and a PhD in Immunogenetics of Juvenile Arthritis from the arc Epidemiology Unit, University of Manchester, in 2003. She then undertook a brief statistical genetics post doc focusing on rheumatic disorders, at the Centre for Integrated Genomic and Medical Research, University of Manchester, before moving to the Wellcome Trust Centre for Human Genetics, University of Oxford, to work on the genetics of type 2 diabetes. In 2006, Ele was awarded a Wellcome Trust Research Career Development Fellowship to examine design, analysis and interpretation issues in large-scale association studies. She joined the Wellcome Trust Sanger Institute Faculty in November 2008 and leads the Analytical Genomics of Complex Traits group. Ele's scientific interests focus on the genetics and genomics of complex traits, primarily cardiometabolic and musculoskeletal phenotypes, and on addressing relevant statistical genetics issues.

Publications

  • The UK10K project identifies rare variants in health and disease.

    UK10K Consortium, Walter K, Min JL, Huang J, Crooks L et al.

    Nature 2015;526;7571;82-90

  • The African Genome Variation Project shapes medical genetics in Africa.

    Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I et al.

    Nature 2015;517;7534;327-32

  • Functional annotation of noncoding sequence variants.

    Ritchie GR, Dunham I, Zeggini E and Flicek P

    Nature methods 2014;11;3;294-6

  • Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.

    Panoutsopoulou K, Hatzikotoulas K, Xifara DK, Colonna V, Farmaki AE et al.

    Nature communications 2014;5;5345

  • A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

    Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR et al.

    Nature communications 2013;4;2872

  • Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

    arcOGEN Consortium, arcOGEN Collaborators, Zeggini E, Panoutsopoulou K, Southam L et al.

    Lancet (London, England) 2012;380;9844;815-23

  • Next-generation association studies for complex traits.

    Zeggini E

    Nature genetics 2011;43;4;287-8

  • Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

    Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL et al.

    Nature genetics 2008;40;5;638-45

  • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium

    Nature 2007;447;7145;661-78

  • Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

    Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS et al.

    Science (New York, N.Y.) 2007;316;5829;1336-41

  • An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets.

    Zeggini E, Rayner W, Morris AP, Hattersley AT, Walker M et al.

    Nature genetics 2005;37;12;1320-2

  • Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

    Southam L, Gilly A, Süveges D, Farmaki AE, Schwartzentruber J et al.

    Nature communications 2017;8;15606

  • Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.

    Xu H, Ryan KA, Jaworek TJ, Southam L, Reid JG et al.

    Diabetes 2017

  • The mountainous Cretan dietary patterns and their relationship with cardiovascular risk factors: the Hellenic Isolated Cohorts MANOLIS study.

    Farmaki AE, Rayner NW, Matchan A, Spiliopoulou P, Gilly A et al.

    Public health nutrition 2016;1-12

  • Radiographic endophenotyping in hip osteoarthritis improves the precision of genetic association analysis.

    Panoutsopoulou K, Thiagarajah S, Zengini E, Day-Williams AG, Ramos YF et al.

    Annals of the rheumatic diseases 2016

  • Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

    Iotchkova V, Huang J, Morris JA, Jain D, Barbieri C et al.

    Nature genetics 2016;48;11;1303-1312

  • A reference panel of 64,976 haplotypes for genotype imputation.

    McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR et al.

    Nature genetics 2016;48;10;1279-83

  • Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.

    Castaño-Betancourt MC, Evans DS, Ramos YF, Boer CG, Metrustry S et al.

    PLoS genetics 2016;12;10;e1006260

  • Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

    Surendran P, Drenos F, Young R, Warren H, Cook JP et al.

    Nature genetics 2016;48;10;1151-61

  • Genome-wide associations for birth weight and correlations with adult disease.

    Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN et al.

    Nature 2016

  • The genetic architecture of type 2 diabetes.

    Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V et al.

    Nature 2016;536;7614;41-7

  • Trans-ethnic study design approaches for fine-mapping.

    Asimit JL, Hatzikotoulas K, McCarthy M, Morris AP and Zeggini E

    European journal of human genetics : EJHG 2016;24;9;1330-6

  • Analysis with the exome array identifies multiple new independent variants in lipid loci.

    Kanoni S, Masca NG, Stirrups KE, Varga TV, Warren HR et al.

    Human molecular genetics 2016

  • Functional genomics in osteoarthritis: Past, present, and future.

    Steinberg J and Zeggini E

    Journal of orthopaedic research : official publication of the Orthopaedic Research Society 2016;34;7;1105-10

  • High-throughput DNA methylation analysis in anorexia nervosa confirms TNXB hypermethylation.

    Kesselmeier M, Pütter C, Volckmar AL, Baurecht H, Grallert H et al.

    The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2016;1-13

  • Meta-analysis of rare variants

    TACHMAZIDOU,I. and ZEGGINI,E.;

    Assessing Rare Variation in Complex Traits: Design and Analysis of Genetic Studies 2016;215-226

  • Preface

    ZEGGINI,E. and Morris,A.

    Assessing Rare Variation in Complex Traits: Design and Analysis of Genetic Studies 2016

  • Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index.

    Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M et al.

    Molecular psychiatry 2016

  • Very low depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.

    Gilly A, Ritchie GR, Southam L, Farmaki AE, Tsafantakis E et al.

    Human molecular genetics 2016

  • Insights into metabolic disease from studying genetics in isolated populations: stories from Greece to Greenland.

    Zeggini E, Gloyn AL and Hansen T

    Diabetologia 2016;59;5;938-41

  • Whole-exome sequencing in an isolated population from the Dalmatian island of Vis.

    Jeroncic A, Memari Y, Ritchie GR, Hendricks AE, Kolb-Kokocinski A et al.

    European journal of human genetics : EJHG 2016

  • Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.

    Horikoshi M, Pasquali L, Wiltshire S, Huyghe JR, Mahajan A et al.

    Human molecular genetics 2016

  • Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

    Felix JF, Bradfield JP, Monnereau C, van der Valk RJ, Stergiakouli E et al.

    Human molecular genetics 2016;25;2;389-403

  • HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.

    Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D et al.

    Proceedings of the National Academy of Sciences of the United States of America 2015;112;52;15970-5

  • A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits.

    Asimit JL, Panoutsopoulou K, Wheeler E, Berndt SI, GIANT consortium et al.

    Genetic epidemiology 2015;39;8;624-34

  • Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

    Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R et al.

    Nature genetics 2015;47;12;1415-25

  • Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

    Sidore C, Busonero F, Maschio A, Porcu E, Naitza S et al.

    Nature genetics 2015;47;11;1272-81

  • The UK10K project identifies rare variants in health and disease.

    UK10K Consortium, Walter K, Min JL, Huang J, Crooks L et al.

    Nature 2015;526;7571;82-90

  • Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

    Wain LV, Shrine N, Miller S, Jackson VE, Ntalla I et al.

    The Lancet. Respiratory medicine 2015;3;10;769-81

  • Height-reducing variants and selection for short stature in Sardinia.

    Zoledziewska M, Sidore C, Chiang CW, Sanna S, Mulas A et al.

    Nature genetics 2015

  • Directional dominance on stature and cognition in diverse human populations.

    Joshi PK, Esko T, Mattsson H, Eklund N, Gandin I et al.

    Nature 2015;523;7561;459-62

  • Dietary Intake, FTO Genetic Variants, and Adiposity: A Combined Analysis of Over 16,000 Children and Adolescents.

    Qi Q, Downer MK, Kilpeläinen TO, Taal HR, Barton SJ et al.

    Diabetes 2015;64;7;2467-76

  • Whole-genome sequence-based analysis of thyroid function.

    Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M et al.

    Nature communications 2015;6;5681

  • Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis.

    McKerrell T, Park N, Moreno T, Grove CS, Ponstingl H et al.

    Cell reports 2015;10;8;1239-45

  • A novel common variant in DCST2 is associated with length in early life and height in adulthood.

    van der Valk RJ, Kreiner-Møller E, Kooijman MN, Guxens M, Stergiakouli E et al.

    Human molecular genetics 2015;24;4;1155-68

  • The African Genome Variation Project shapes medical genetics in Africa.

    Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I et al.

    Nature 2015;517;7534;327-32

  • Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

    Soler Artigas M, Wain LV, Miller S, Kheirallah AK, Huffman JE et al.

    Nature communications 2015;6;8658

  • The effect of FTO variation on increased osteoarthritis risk is mediated through body mass index: a Mendelian randomisation study.

    Panoutsopoulou K, Metrustry S, Doherty SA, Laslett LL, Maciewicz RA et al.

    Annals of the rheumatic diseases 2014;73;12;2082-6

  • A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.

    Evangelou E, Kerkhof HJ, Styrkarsdottir U, Ntzani EE, Bos SD et al.

    Annals of the rheumatic diseases 2014;73;12;2130-6

  • Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.

    Panoutsopoulou K, Hatzikotoulas K, Xifara DK, Colonna V, Farmaki AE et al.

    Nature communications 2014;5;5345

  • Using ancestry-informative markers to identify fine structure across 15 populations of European origin.

    Huckins LM, Boraska V, Franklin CS, Floyd JA, Southam L et al.

    European journal of human genetics : EJHG 2014;22;10;1190-200

  • A genome-wide association study of anorexia nervosa.

    Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM et al.

    Molecular psychiatry 2014;19;10;1085-94

  • A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

    Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G et al.

    Nature communications 2014;5;4871

  • Using population isolates in genetic association studies.

    Hatzikotoulas K, Gilly A and Zeggini E

    Briefings in functional genomics 2014;13;5;371-7

  • Estimating genome-wide significance for whole-genome sequencing studies.

    Xu C, Tachmazidou I, Walter K, Ciampi A, Zeggini E et al.

    Genetic epidemiology 2014;38;4;281-90

  • Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.

    Wain LV, Sayers I, Soler Artigas M, Portelli MA, Zeggini E et al.

    PLoS genetics 2014;10;5;e1004314

  • Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies.

    Rodriguez-Fontenla C, Calaza M, Evangelou E, Valdes AM, Arden N et al.

    Arthritis & rheumatology (Hoboken, N.J.) 2014;66;4;940-9

  • Functional annotation of noncoding sequence variants.

    Ritchie GR, Dunham I, Zeggini E and Flicek P

    Nature methods 2014;11;3;294-6

  • Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes.

    Ayub Q, Moutsianas L, Chen Y, Panoutsopoulou K, Colonna V et al.

    American journal of human genetics 2014;94;2;176-85

  • Using genetically isolated populations to understand the genomic basis of disease.

    Zeggini E

    Genome medicine 2014;6;10;83

  • Genome-wide association study for osteoarthritis

    PANOUTSOPOULOU,K.;, SOUTHAM,L.; and ZEGGINI,E.;

    The Lancet 2013;381;9864;373

  • Advances in osteoarthritis genetics.

    Panoutsopoulou K and Zeggini E

    Journal of medical genetics 2013;50;11;715-24

  • In search of low-frequency and rare variants affecting complex traits.

    Panoutsopoulou K, Tachmazidou I and Zeggini E

    Human molecular genetics 2013;22;R1;R16-21

  • The DOT1L rs12982744 polymorphism is associated with osteoarthritis of the hip with genome-wide statistical significance in males.

    Evangelou E, Valdes AM, Castano-Betancourt MC, Doherty M, Doherty S et al.

    Annals of the rheumatic diseases 2013;72;7;1264-5

  • Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

    Elliott KS, Chapman K, Day-Williams A, Panoutsopoulou K, Southam L et al.

    Annals of the rheumatic diseases 2013;72;6;935-41

  • A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.

    Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR et al.

    Nature communications 2013;4;2872

  • Genome-wide association analysis of imputed rare variants: application to seven common complex diseases.

    Mägi R, Asimit JL, Day-Williams AG, Zeggini E and Morris AP

    Genetic epidemiology 2012;36;8;785-96

  • Genome-wide meta-analysis of common variant differences between men and women.

    Boraska V, Jerončić A, Colonna V, Southam L, Nyholt DR et al.

    Human molecular genetics 2012;21;21;4805-15

  • Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

    arcOGEN Consortium, arcOGEN Collaborators, Zeggini E, Panoutsopoulou K, Southam L et al.

    Lancet (London, England) 2012;380;9844;815-23

  • ARIEL and AMELIA: testing for an accumulation of rare variants using next-generation sequencing data.

    Asimit JL, Day-Williams AG, Morris AP and Zeggini E

    Human heredity 2012;73;2;84-94

  • Imputation of rare variants in next-generation association studies.

    Asimit JL and Zeggini E

    Human heredity 2012;74;3-4;196-204

  • Rare variant association testing for next-generation sequencing data via hierarchical clustering.

    Tachmazidou I, Morris A and Zeggini E

    Human heredity 2012;74;3-4;165-71

  • Defining the power limits of genome-wide association scan meta-analyses.

    Chapman K, Ferreira T, Morris A, Asimit J and Zeggini E

    Genetic epidemiology 2011;35;8;781-9

  • Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study.

    Panoutsopoulou K, Southam L, Elliott KS, Wrayner N, Zhai G et al.

    Annals of the rheumatic diseases 2011;70;5;864-7

  • The effect of next-generation sequencing technology on complex trait research.

    Day-Williams AG and Zeggini E

    European journal of clinical investigation 2011;41;5;561-7

  • Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22.

    Evangelou E, Valdes AM, Kerkhof HJ, Styrkarsdottir U, Zhu Y et al.

    Annals of the rheumatic diseases 2011;70;2;349-55

  • Rare variation at the TNFAIP3 locus and susceptibility to rheumatoid arthritis.

    Bowes J, Lawrence R, Eyre S, Panoutsopoulou K, Orozco G et al.

    Human genetics 2010;128;6;627-33

  • CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies.

    Lawrence R, Day-Williams AG, Elliott KS, Morris AP and Zeggini E

    BMC bioinformatics 2010;11;527

  • Synthetic associations in the context of genome-wide association scan signals.

    Orozco G, Barrett JC and Zeggini E

    Human molecular genetics 2010;19;R2;R137-44

  • Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

    Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C et al.

    Nature genetics 2010;42;7;579-89

  • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD et al.

    Nature 2010;464;7289;713-20

  • An evaluation of statistical approaches to rare variant analysis in genetic association studies.

    Morris AP and Zeggini E

    Genetic epidemiology 2010;34;2;188-93

  • Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

    Perry JR, Weedon MN, Langenberg C, Jackson AU, Lyssenko V et al.

    Human molecular genetics 2010;19;3;535-44

  • Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.

    Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS et al.

    Nature genetics 2010;42;2;142-8

  • New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

    Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N et al.

    Nature genetics 2010;42;2;105-16

  • Rare variant association analysis methods for complex traits.

    Asimit J and Zeggini E

    Annual review of genetics 2010;44;293-308

  • Underlying genetic models of inheritance in established type 2 diabetes associations.

    Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I et al.

    American journal of epidemiology 2009;170;5;537-45

  • Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

    Southam L, Soranzo N, Montgomery SB, Frayling TM, McCarthy MI et al.

    Diabetologia 2009;52;9;1846-51

  • Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies.

    Nolte IM, Wallace C, Newhouse SJ, Waggott D, Fu J et al.

    PloS one 2009;4;7;e6138

  • Genome-wide association study identifies eight loci associated with blood pressure.

    Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M et al.

    Nature genetics 2009;41;6;666-76

  • Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.

    Perry JR, McCarthy MI, Hattersley AT, Zeggini E, Wellcome Trust Case Control Consortium et al.

    Diabetes 2009;58;6;1463-7

  • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

    Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM et al.

    Nature genetics 2009;41;1;25-34

  • Variants in MTNR1B influence fasting glucose levels.

    Prokopenko I, Langenberg C, Florez JC, Saxena R, Soranzo N et al.

    Nature genetics 2009;41;1;77-81

  • Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.

    Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J et al.

    Diabetes 2008;57;11;3161-5

  • Common variants near MC4R are associated with fat mass, weight and risk of obesity.

    Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH et al.

    Nature genetics 2008;40;6;768-75

  • Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

    Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL et al.

    Nature genetics 2008;40;5;638-45

  • Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

    Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR et al.

    Nature genetics 2007;39;11;1329-37

  • A common variant of HMGA2 is associated with adult and childhood height in the general population.

    Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF et al.

    Nature genetics 2007;39;10;1245-50

  • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

    Wellcome Trust Case Control Consortium

    Nature 2007;447;7145;661-78

  • Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

    Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS et al.

    Science (New York, N.Y.) 2007;316;5829;1336-41

  • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

    Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM et al.

    Science (New York, N.Y.) 2007;316;5826;889-94

  • An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets.

    Zeggini E, Rayner W, Morris AP, Hattersley AT, Walker M et al.

    Nature genetics 2005;37;12;1320-2

Career/Research Highlights

Zeggini, Ele
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