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

作者：Silverberg Mark S; Cho Judy H; Rioux John D; McGovern Dermot P B; Wu Jing; Annese Vito; Achkar Jean Paul; Goyette Philippe; Scott Regan; Xu Wei; Barmada M Michael; Klei Lambertus; Daly Mark J; Abraham Clara; Bayless Theodore M; Bossa Fabrizio; Griffiths Anne M; Ippoliti Andrew F; Lahaie Raymond G; Latiano Anna; Pare Pierre; Proctor Deborah D; Regueiro Miguel D; Steinhart A Hillary; Targan Stephan R; Schumm L Philip; Kistner Emily O; Lee Annette T

来源：Nature Genetics, 2009, 41(2): 216-220.

DOI：10.1038/ng.275

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

• 出版日期2009-2
• 单位河北医科大学