Professor of Statistical Genetics, Wellcome Trust Sanger Institute

Email: eleftheria@sanger.ac.uk

Research Interests

I am based at the Wellcome Trust Sanger Institute, where I lead the Analytical Genomics of Complex Traits team.

Our research aims to:

• Identify novel complex trait loci;
• Develop analytical tools;
• Understand the molecular mechanisms underpinning disease pathogenesis.

Osteoarthritis is a common complex disease with a substantial public health burden. The genetic causes and molecular pathways underpinning disease development remain largely unidentified. We perform large-scale genome-wide association studies to understand the genetic aetiology of osteoarthritis and related-traits, and apply integrated functional genomics approaches to decipher the processes that lead to musculoskeletal disease development and progression.

Key Publications

Gurdasani D, Carstensen T, Tekola-Ayele F, Pagani L, Tachmazidou I, Hatzikotoulas K,  Karthikeyan S, Iles L, Pollard MO, Choudhury A, Ritchie GRS, Xue Y, Asimit J, Nsubuga RN, Young EH, Pomilla C, Kivinen K, Rockett K, Kamali A, Doumatey AP, Asiki G, Seeley J, Sisay-Joof F, Jallow M, Tollman S, Mekonnen E, Ekong R, Oljira T, Bradman N, Bojang K, Ramsay M, Adeyemo A, Bekele E, Motala A, Norris SA, Pirie F, Kaleebu P, Kwiatkowski D, Tyler-Smith C, Rotimi C, Zeggini E, Sandhu MS. (2015) The African Genome Variation Project: A framework for medical genetics in Africa. Nature. 517:327-32. PMID: 25470054.

Elliot KS, Chapman K, Day-Williams A, Panoutsopoulou K, Southam L, Lindgren CM, the GIANT consortium, Arden N, Aslam N, Birrell F, Carr A, Deloukas P, Doherty M, Loughlin J, McCaskie A, Ollier WER, Rai A, Ralston S, Reed MR, Spector TD, Valdes AM, Wallis GA, Wilkinson M, Carluke I, the arcOGEN consortium, Zeggini E. (2013) Evaluation of the genetic overlap between osteoarthritis with BMI and height using genome-wide association scan data. Ann Rheum Dis. 72:935-41. PMID: 22956599

Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hofman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonsson H, Kerkhof HJM, Kloppenburg M, Bos S, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EVA, 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 JPA, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Styrkarsdottir U, Uitterlinden AG, van Meurs JBJ, arcOGEN Consortium, Chapman K, Deloukas P, Ollier WER, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Wilkinson JM, Ralston SH, Valdes AM, Spector TD, Loughlin J. (2012) Identification of new susceptibility loci for osteoarthritis -the arcOGEN study. Lancet. 380:815-23. PMID: 22763110

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, Zeggini E. (2011) A variant in MCF2L is associated with osteoarthritis. Am J Hum Genet. 89:446-50. PMID: 21871595

Zeggini E. (2011) Next-generation association studies for complex traits. Nat Genet. 43(4):287-8. PMID: 21445070

Areas of expertise

genetic association studies, functional genomics, statistical genetics, genetic epidemiology.