Professor Eleftheria Zeggini

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 of complex traits, primarily cardiometabolic and musculoskeletal phenotypes, and on addressing relevant statistical genetics issues.

Selected Publications

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

    Tachmazidou I, Dedoussis G, Southam L, Farmaki AE, Ritchie GR, Xifara DK, Matchan A, Hatzikotoulas K, Rayner NW, Chen Y, Pollin TI, O'Connell JR, Yerges-Armstrong LM, Kiagiadaki C, Panoutsopoulou K, Schwartzentruber J, Moutsianas L, UK10K consortium, Tsafantakis E, Tyler-Smith C, McVean G, Xue Y and Zeggini E

    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, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hoffman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonnson H, Kerkhof HJ, Kloppenburg M, Bos SD, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EV, Ratnayake M, Ricketts M, Beazley C, Blackburn H, Bumpstead S, Elliott KS, Hunt SE, Potter SC, Shin SY, Yadav VK, Zhai G, Sherburn K, Dixon K, Arden E, Aslam N, Battley PK, Carluke I, Doherty S, Gordon A, Joseph J, Keen R, Koller NC, Mitchell S, O'Neill F, Paling E, Reed MR, Rivadeneira F, Swift D, Walker K, Watkins B, Wheeler M, Birrell F, Ioannidis JP, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Stykarsdottir U, Uitterlinden AG, van Meurs JB, Chapman K, Deloukas P, Ollier WE, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Willkinson JM, Ralston SH, Valdes AM, Spector TD and Loughlin J

    Lancet 2012;380;9844;815-23

  • A variant in MCF2L is associated with osteoarthritis.

    Day-Williams AG, Southam L, Panoutsopoulou K, Rayner NW, Esko T, Estrada K, Helgadottir HT, Hofman A, Ingvarsson T, Jonsson H, Keis A, Kerkhof HJ, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Loughlin J, McCaskie A, Ollier WE, Ralston SH, Spector TD, Wallis GA, Wilkinson JM, Aslam N, Birell F, Carluke I, Joseph J, Rai A, Reed M, Walker K, arcOGEN Consortium, Doherty SA, Jonsdottir I, Maciewicz RA, Muir KR, Metspalu A, Rivadeneira F, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JB, Zhang W, Valdes AM, Doherty M and Zeggini E

    American journal of human genetics 2011;89;3;446-50

  • Next-generation association studies for complex traits.

    Zeggini E

    Nature genetics 2011;43;4;287-8

  • Rare variant association analysis methods for complex traits.

    Asimit J and Zeggini E

    Annual review of genetics 2010;44;293-308

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

    Panoutsopoulou K, Southam L, Elliott KS, Wrayner N, Zhai G, Beazley C, Thorleifsson G, Arden NK, Carr A, Chapman K, Deloukas P, Doherty M, McCaskie A, Ollier WE, Ralston SH, Spector TD, Valdes AM, Wallis GA, Wilkinson JM, Arden E, Battley K, Blackburn H, Blanco FJ, Bumpstead S, Cupples LA, Day-Williams AG, Dixon K, Doherty SA, Esko T, Evangelou E, Felson D, Gomez-Reino JJ, Gonzalez A, Gordon A, Gwilliam R, Halldorsson BV, Hauksson VB, Hofman A, Hunt SE, Ioannidis JP, Ingvarsson T, Jonsdottir I, Jonsson H, Keen R, Kerkhof HJ, Kloppenburg MG, Koller N, Lakenberg N, Lane NE, Lee AT, Metspalu A, Meulenbelt I, Nevitt MC, O'Neill F, Parimi N, Potter SC, Rego-Perez I, Riancho JA, Sherburn K, Slagboom PE, Stefansson K, Styrkarsdottir U, Sumillera M, Swift D, Thorsteinsdottir U, Tsezou A, Uitterlinden AG, van Meurs JB, Watkins B, Wheeler M, Mitchell S, Zhu Y, Zmuda JM, arcOGEN Consortium, Zeggini E and Loughlin J

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

  • 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, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Bengtsson Boström K, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Walters GB, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI, MAGIC investigators and GIANT Consortium

    Nature genetics 2010;42;7;579-89

  • 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

  • Rare variant association analysis methods for complex traits.

    Asimit J and Zeggini E

    Annual review of genetics 2010;44;293-308

  • 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, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Boström KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jørgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjögren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ, Wellcome Trust Case Control Consortium, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M and Altshuler D

    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, Lango H, Timpson NJ, Perry JR, Rayner NW, Freathy RM, Barrett JC, Shields B, Morris AP, Ellard S, Groves CJ, Harries LW, Marchini JL, Owen KR, Knight B, Cardon LR, Walker M, Hitman GA, Morris AD, Doney AS, Wellcome Trust Case Control Consortium (WTCCC), McCarthy MI and Hattersley AT

    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, Hitman GA, Deloukas P, Cardon LR and McCarthy MI

    Nature genetics 2005;37;12;1320-2

* quick link - http://q.sanger.ac.uk/6mpbvqw8