Naom I, Lee J, Ford D, Bowman S J, Lanchbury J S, Haris I, Hodgson S V, Easton D, Lennard-Jones J, Mathew C G
Division of Medical and Molecular Genetics UMDS, Guy's Hospital, London, UK.
Am J Hum Genet. 1996 Jul;59(1):226-33.
Crohn disease (CD) and ulcerative colitis (UC) are chronic inflammatory bowel diseases (IBDs) of unknown etiology. First-degree relatives of IBD patients have a 10-fold increase in risk of developing the same disease, and distinct associations between specific HLA types and both CD and UC have been reported. We have evaluated the contribution of genes at the HLA locus to susceptibility in IBD by linkage analysis of highly informative microsatellite polymorphisms in 43 families with multiple affected cases. No evidence for linkage of HLA to IBD was obtained under any of the four models tested. Analysis of HLA haplotype sharing in affected relatives indicated that the relative risk to a sibling conferred by the HLA locus was 1.11 in UC and 0.75 in CD, with upper (95%) confidence limits of 2.41 and 1.37, respectively. This suggests that other genetic or environmental factors are responsible for most of the familial aggregation in IBD.
克罗恩病(CD)和溃疡性结肠炎(UC)是病因不明的慢性炎症性肠病(IBD)。IBD患者的一级亲属患同一种疾病的风险增加10倍,并且已经报道了特定HLA类型与CD和UC之间存在明显关联。我们通过对43个有多个受累病例的家庭中信息丰富的微卫星多态性进行连锁分析,评估了HLA基因座上的基因对IBD易感性的贡献。在测试的四种模型中的任何一种下,均未获得HLA与IBD连锁的证据。对受累亲属中HLA单倍型共享的分析表明,HLA基因座赋予兄弟姐妹的相对风险在UC中为1.11,在CD中为0.75,其上限(95%)置信限分别为2.41和1.37。这表明其他遗传或环境因素是IBD中大多数家族聚集的原因。