Letter abstract

Nature Genetics 41, 216 - 220 (2009)
Published online: 4 January 2009 | Corrected online: 28 April 2009 | doi:10.1038/ng.275

There is a Corrigendum (June 2009) associated with this Letter.

Ulcerative colitis–risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

Mark S Silverberg1,22, Judy H Cho2,3,22, John D Rioux4, Dermot P B McGovern5, Jing Wu6, Vito Annese7, Jean-Paul Achkar8, Philippe Goyette4, Regan Scott9, Wei Xu10, M Michael Barmada11, Lambertus Klei12, Mark J Daly13, Clara Abraham2, Theodore M Bayless14, Fabrizio Bossa7, Anne M Griffiths15, Andrew F Ippoliti5, Raymond G Lahaie16, Anna Latiano7, Pierre Paré17, Deborah D Proctor2, Miguel D Regueiro9, A Hillary Steinhart1, Stephan R Targan5, L Philip Schumm18, Emily O Kistner18, Annette T Lee19, Peter K Gregersen19, Jerome I Rotter5,20, Steven R Brant14,21, Kent D Taylor5,20, Kathryn Roeder6 & Richard H Duerr9,11


Ulcerative colitis is a chronic inflammatory disease of the colon that presents as diarrhea and gastrointestinal bleeding. We performed a genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry. In an analysis that controlled for gender and population structure, ulcerative colitis loci attaining genome-wide significance and subsequent replication in two independent populations were identified on chromosomes 1p36 (rs6426833, combined P = 5.1 times 10-13, combined odds ratio OR = 0.73) and 12q15 (rs1558744, combined P = 2.5 times 10-12, combined OR = 1.35). In addition, combined genome-wide significant evidence for association was found in a region spanning BTNL2 to HLA-DQB1 on chromosome 6p21 (rs2395185, combined P = 1.0 times 10-16, combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3 times 10-8, combined OR = 0.56; rs10889677, combined P = 1.3 times 10-8, combined OR = 1.29).

  1. Mount Sinai Hospital Inflammatory Bowel Disease Group, University of Toronto, 600 University Avenue, Toronto, ON M5G1X5, Canada
  2. Section of Digestive Diseases, Department of Medicine, Yale University, 333 Cedar Street, LMP1080, New Haven, Connecticut 06520, USA
  3. Department of Genetics, Yale University, 333 Cedar Street, LMP1080, New Haven, Connecticut 06520, USA
  4. Université de Montréal and the Montreal Heart Institute, Research Center, 5000 rue Belanger, Montréal, QC H1T1C8, Canada
  5. Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, California 90048, USA
  6. Department of Statistics, Carnegie Mellon University, Baker/Porter Hall A60K, Pittsburgh, Pennsylvania 15213, USA
  7. IRCCS-CSS Hospital, Viale Cappuccini, 1, S. Giovanni Rotondo, Fg 71013, Italy
  8. Digestive Disease Institute, Cleveland Clinic, 9500 Euclid Avenue, Desk A31, Cleveland, Ohio 44195, USA
  9. Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, UPMC-PUH, Mezzanine Level, C-Wing, 200 Lothrop Street, Pittsburgh, Pennsylvania 15213, USA
  10. Princess Margaret Hospital, Department of Public Health Sciences, University of Toronto, 610 University Avenue, Toronto, ON M5G2M9, Canada
  11. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, 130 Desoto Street, Pittsburgh, Pennsylvania 15261, USA
  12. University of Pittsburgh Medical Center, Department of Psychiatry, 3811 O'Hara Street, Pittsburgh, Pennsylvania 15213, USA
  13. Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114, USA
  14. Johns Hopkins University School of Medicine, Department of Medicine, Harvey M. and Lyn P. Meyerhoff Infammatory Bowel Disease Center, 600 N. Wolfe Street, Baltimore, Maryland 21287, USA
  15. The Hospital for Sick Children, Department of Pediatrics, 555 University Avenue, Toronto, ON M5G1X8, Canada
  16. Department of Medicine, Université de Montréal and CHUM–Hôpital Saint-Luc, 1058, rue Saint-Denis, Montréal, QC H2X3J4, Canada
  17. Division of Gastroenterology, Department of Medicine, Laval University, Quebec City, CHAUQ–Hôpital du St-Sacrement, 1050, Chemin Ste–Foy, QC G1S4L8, Canada
  18. Department of Health Studies, University of Chicago, 5841 S. Maryland Avenue, Chicago, Illinois 60637, USA
  19. The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, New York 11030, USA
  20. Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, California 90048, USA
  21. Johns Hopkins University Bloomberg School of Public Health, Department of Epidemiology, 1501 E. Jefferson Street, B136, Baltimore, Maryland 21231, USA
  22. These authors contributed equally to this work

Correspondence to: Richard H Duerr9,11 e-mail: duerr@pitt.edu

* NOTE: In the first paragraph of the second column on the third page, rs11209026 A allele was incorrectly listed as rs111209026 A allele. The error has been corrected in the HTML and PDF versions of the article.