Journal Article

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

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

2009

Overview

Richard Duerr and colleagues present a genome-wide association study of ulcerative colitis. They identify new risk loci on chromosomes 1p36 and 12q15. 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).

• Publisher: Nature Publishing Group US,Nature Publishing Group
• Subject: Agriculture / Animal Genetics and Genomics / Biomedical and Life Sciences / Biomedicine / Bowel disease / Butyrophilins / Cancer Research / Case-Control Studies / Chromosomes / Chromosomes, Human, Pair 1 / Chromosomes, Human, Pair 12 / Chromosomes, Human, Pair 6 / Colitis, Ulcerative - genetics / Female / Gene expression / Gene Function / Genetic aspects / Genetic Predisposition to Disease / Genetics / Genome-Wide Association Study / Genotype / HLA-DQ Antigens - genetics / HLA-DQ beta-Chains / Human Genetics / Humans / Inflammatory bowel disease / Kidney diseases / letter / Male / Membrane Glycoproteins - genetics / Polymorphism, Single Nucleotide / Population structure / Quality control / Receptors, Interleukin - genetics / Recombination, Genetic / Risk Factors / Single nucleotide polymorphisms / Ulcerative colitis