Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
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DOI：
10.1038/ng1001-223
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发表时间：
2001-10-01
期刊：
影响因子：
30.8
通讯作者：
Hudson, TJ
中科院分区：
文献类型：
--
作者：
Rioux, JD;Daly, MJ;Hudson, TJ
连锁不平衡（LD）映射为稀有疾病基因的精细结构定位提供了一种有力的方法，但尚未广泛应用于常见疾病（1）。我们试图设计一种系统的LD映射方法，并将其应用于基因（IBD5）的定位，以赋予克罗恩病的易感性。关键问题是：（i）检测一个重要的LD信号（II）以严格绑定关键区域和（iii）以识别该区域内的因果遗传变异。我们以前将IBD5基因座映射到跨越18厘米5q3染色体的大区域（P
Linkage disequilibrium (LD) mapping provides a powerful method for fine-structure localization of rare disease genes, but has not yet been widely applied to common disease(1). We sought to design a systematic approach for LD mapping and apply it to the localization of a gene (IBD5) conferring susceptibility to Crohn disease. The key issues are: (i) to detect a significant LD signal (ii) to rigorously bound the critical region and (iii) to identify the causal genetic variant within this region. We previously mapped the IBD5 locus to a large region spanning 18 cM of chromosome 5q31 (P