IBD2基因座在溃疡性结肠炎和克罗恩病之间表现出连锁异质性。
The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease.
作者信息
Parkes M, Barmada M M, Satsangi J, Weeks D E, Jewell D P, Duerr R H
机构信息
Gastroenterology Unit, Nuffield Department of Medicine, Radcliffe Infirmary, University of Oxford, Oxford, United Kingdom.
出版信息
Am J Hum Genet. 2000 Dec;67(6):1605-10. doi: 10.1086/316905. Epub 2000 Nov 10.
Abstract
The IBD2 locus on chromosome 12 has been linked to both Crohn disease (CD) and ulcerative colitis (UC) but has not been detected in some CD-dominated data sets. In the present study, we genotyped 581 relative pairs with inflammatory bowel disease (252 from CD-only families, 138 from UC-only families, and 191 from mixed families containing cases of both CD and UC), using 12 markers spanning the IBD2 locus. A GENEHUNTER-PLUS multipoint LOD score of 3.91 was detected for pairs from UC-only families, compared with 1.66 for CD-only and 1.29 for mixed families. The difference between the LOD scores for UC and CD was significant in two different tests for heterogeneity (P=.0057 for one test and P=.0375 for the other). IBD2 thus appears to make a major contribution to UC susceptibility but to have only a relatively minor effect with regard to CD, for which there may be substantially more locus heterogeneity.
摘要
12号染色体上的IBD2基因座与克罗恩病（CD）和溃疡性结肠炎（UC）均相关，但在一些以CD为主的数据集里未被检测到。在本研究中，我们使用跨越IBD2基因座的12个标记，对581对患有炎症性肠病的亲属进行了基因分型（252对来自仅患CD的家庭，138对来自仅患UC的家庭，191对来自同时包含CD和UC病例的混合家庭）。仅患UC家庭的亲属对的GENEHUNTER - PLUS多点对数优势分数为3.91，而仅患CD家庭的为1.66，混合家庭的为1.29。在两种不同的异质性检验中，UC和CD的对数优势分数差异显著（一种检验的P值为0.0057，另一种检验的P值为0.0375）。因此，IBD2似乎对UC易感性有主要影响，但对CD的影响相对较小，对于CD可能存在更多的基因座异质性。
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