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

Mark S. Silverberg, Judy H. Cho, John D. Rioux, Dermot P.B. McGovern, Jing Wu, Vito Annese, Jean Paul Achkar, Philippe Goyette, Regan Scott, Wei Xu, M. Michael Barmada, Lambertus Klei, Mark J. Daly, Clara Abraham, Theodore M. Bayless, Fabrizio Bossa, Anne M. Griffiths, Andrew F. Ippoliti, Raymond G. Lahaie, Anna LatianoPierre Paré, Deborah D. Proctor, Miguel D. Regueiro, A. Hillary Steinhart, Stephan R. Targan, L. Philip Schumm, Emily O. Kistner, Annette T. Lee, Peter K. Gregersen, Jerome I. Rotter, Steven R. Brant, Kent D. Taylor, Kathryn Roeder, Richard H. Duerr

Research output: Contribution to journalArticlepeer-review

303 Scopus citations


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 × 10-13, combined odds ratio OR = 0.73) and 12q15 (rs1558744, combined P = 2.5 × 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 × 10-16, combined OR = 0.66) and at the IL23R locus on chromosome 1p31 (rs11209026, combined P = 1.3 × 10-8, combined OR = 0.56; rs10889677, combined P = 1.3 × 10-8, combined OR = 1.29).

Original languageEnglish (US)
Pages (from-to)216-220
Number of pages5
JournalNature genetics
Issue number2
StatePublished - Feb 2009
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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