一个国际研究小组日前发现了一些与溃疡性结肠炎发病风险相关的遗传标记,这将有助于研发出有效药物。
据《自然—遗传学》杂志网络版1月4日报道,溃疡性结肠炎是最常见的一种慢性炎症性肠病,而且通常具有家族性。研究人员推测,遗传因素可能发挥了某种作用。来自美国匹兹堡大学医学院等机构的研究人员对1052名溃疡性结肠炎患者和2571名正常人的DNA(脱氧核糖核酸)样本进行了全基因组扫描后发现,有2个遗传标记与溃疡性结肠炎的发病存在非常显著的相关性。遗传标记是指在遗传分析上用作标记的基因,也称为标记基因。(生物谷Bioon.com)
生物谷推荐原始出处:
Nature Genetics, doi:10.1038/ng.275,Mark S Silverberg,Richard H Duerr
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 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).