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克罗恩病易感性位点在 16 号染色体上的确认。

Confirmation of a susceptibility locus for Crohn's disease on chromosome 16.

机构信息

Emma Getz IBD Research Center, Section of Gastroenterology, Departments of Medicine and *Pediatrics, University of Chicago Hospitals, Chicago, Illinois, U.S.A.

出版信息

Inflamm Bowel Dis. 1997 Fall;3(3):186-90.

Abstract

: Crohn's disease and ulcerative colitis are related complex genetic disorders producing chronic intestinal inflammation. A susceptibility locus for Crohn's disease, IBDI (inflammatory bowel disease), has been implicated on chromosome 16. To evaluate IBDI in a different population using alternative methodology, we tested markers in the region of IBDI. Seventy-two relative pairs with Crohn's disease only, 23 mixed relative pairs (one relative having Crohn's disease, the other, ulcerative colitis), and 5 relative pairs with ulcerative colitis were genotyped in the region of IBDI. Our population consisted of white Americans, with 29% of families of Ashkenazi Jewish descent. Among the Crohn's disease pairs, we found evidence for linkage at IBDI using multipoint analysis, p = 0.0082. Negative linkage scores were obtained for mixed and ulcerative colitis-only relative pairs. For the entire data set, including mixed relative pairs and relative pairs with ulcerative colitis, there was no significant evidence of linkage. No difference was observed in the evidence of linkage between Jewish and non-Jewish families. Our studies confirm that IBDI represents a susceptibility locus for Crohn's disease, but not ulcerative colitis.

摘要

克罗恩病和溃疡性结肠炎是相关的复杂遗传疾病,导致慢性肠道炎症。克罗恩病的易感性位点 IBDI(炎症性肠病)已被牵连到染色体 16 上。为了使用替代方法在不同人群中评估 IBDI,我们在 IBDI 区域测试了标记物。72 对仅患有克罗恩病的亲属、23 对混合亲属(一个亲属患有克罗恩病,另一个亲属患有溃疡性结肠炎)和 5 对患有溃疡性结肠炎的亲属在 IBDI 区域进行了基因分型。我们的人群由白种美国人组成,其中 29%的家庭是阿什肯纳兹犹太人的后裔。在克罗恩病对中,我们使用多点分析发现了 IBDI 处的连锁证据,p = 0.0082。混合和仅溃疡性结肠炎的相对对获得了阴性连锁评分。对于包括混合亲属对和溃疡性结肠炎亲属对的整个数据集,没有发现连锁的显著证据。在犹太家庭和非犹太家庭之间,连锁证据没有观察到差异。我们的研究证实 IBDI 代表克罗恩病的易感位点,但不是溃疡性结肠炎。

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