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16号染色体上克罗恩病易感性位点的定位

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

作者信息

Hugot J P, Laurent-Puig P, Gower-Rousseau C, Olson J M, Lee J C, Beaugerie L, Naom I, Dupas J L, Van Gossum A, Orholm M, Bonaiti-Pellie C, Weissenbach J, Mathew C G, Lennard-Jones J E, Cortot A, Colombel J F, Thomas G

机构信息

Laboratoire de Génétique des Tumeurs, INSERM U 434, Institut Curie, Paris France.

出版信息

Nature. 1996 Feb 29;379(6568):821-3. doi: 10.1038/379821a0.

Abstract

Crohn's disease (CD) and ulcerative colitis are the major forms of chronic inflammatory bowel diseases in the western world, and occur in young adults with an estimated prevalence of more than one per thousand inhabitants. The causes of inflammatory bowel diseases remain unknown, but genetic epidemiology studies suggest that inherited factors may contribute in part to variation in individual susceptibility to Crohn's disease. A genome-wide search performed on two consecutive and independent panels of families with multiple affected members, using a non-parametric two-point sibling-pair linkage method, identified a putative CD-susceptibility locus on chromosome 16 (P less than 0.01 for each panel). The localization was centered around loci D16S409 and D16S419 by using multipoint sibpair analysis (P less than 1.5x10(-5)). This region of the genome contains candidate genes which may be relevant to the pathogenic mechanism of inflammatory bowel diseases.

摘要

克罗恩病(CD)和溃疡性结肠炎是西方世界慢性炎症性肠病的主要形式,发病于年轻人,估计患病率超过千分之一。炎症性肠病的病因尚不清楚,但遗传流行病学研究表明,遗传因素可能在一定程度上导致个体对克罗恩病易感性的差异。使用非参数两点同胞对连锁方法,对两个连续且独立的有多个患病成员的家系面板进行全基因组搜索,在16号染色体上确定了一个假定的克罗恩病易感位点(每个面板P值均小于0.01)。通过多点同胞对分析,该定位集中在D16S409和D16S419位点周围(P值小于1.5×10⁻⁵)。该基因组区域包含可能与炎症性肠病致病机制相关的候选基因。

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