Brief Communication abstract
Nature Genetics 39, 827 - 829 (2007)
Published online: 10 June 2007 | doi:10.1038/ng2058
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
David A van Heel1, Lude Franke2,17, Karen A Hunt1,17, Rhian Gwilliam3,17, Alexandra Zhernakova2, Mike Inouye3, Martin C Wapenaar4, Martin C N M Barnardo5, Graeme Bethel3, Geoffrey K T Holmes6, Con Feighery7, Derek Jewell8, Dermot Kelleher7, Parveen Kumar1, Simon Travis9, Julian RF Walters10, David S Sanders11, Peter Howdle12, Jill Swift13, Raymond J Playford1, William M McLaren3, M Luisa Mearin14,15, Chris J Mulder16, Ross McManus7, Ralph McGinnis3, Lon R Cardon8, Panos Deloukas3 & Cisca Wijmenga2,4
We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 
10-7) was in the KIAA1109-TENR-IL2-IL21 linkage disequilibrium block. We independently confirmed association in two further collections (strongest association at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 10-14, odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease.
- Centre for Gastroenterology, Institute of Cell and Molecular Science, Queen Mary University of London, London E1 2AT, UK.
- Complex Genetics Section, Department of Biomedical Genetics, University Medical Center Utrecht, 3584 CG Utrecht, The Netherlands.
- Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
- Genetics Department, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.
- Transplant Immunology, Oxford Transplant Centre, Churchill Hospital, Oxford OX3 7LJ, UK.
- Department of Gastroenterology, Derbyshire Royal Infirmary, London Road, Derby DE1 2QY, UK.
- Departments of Clinical Medicine and Immunology, Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland.
- Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.
- Gastroenterology Unit, University of Oxford, Oxford OX3 7BN, UK.
- Gastroenterology Section, Imperial College London, Hammersmith Hospital, London W12 0HS, UK.
- Department of Gastroenterology and Liver Unit, Royal Hallamshire Hospital, Sheffield S10 2JF, UK.
- Department of Gastroenterology, St. James's University Hospital, Leeds LS9 7TF, UK.
- Department of Gastroenterology, Llandough Hospital, Penarth CF64 2XX, UK.
- Department of Paediatric Gastroenterology, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
- Department of Pediatric Gastroenterology, Vrije University Medical Center, 1007 MB Amsterdam, The Netherlands.
- Department of Gastroenterology, Vrije University Medical Center, 1007 MB Amsterdam, The Netherlands.
- These authors contributed equally to this work.
Correspondence to: David A van Heel1 e-mail: d.vanheel@qmul.ac.uk
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