Parkes M, Barmada M M, Satsangi J, Weeks D E, Jewell D P, Duerr R H
Gastroenterology Unit, Nuffield Department of Medicine, Radcliffe Infirmary, University of Oxford, Oxford, United Kingdom.
Am J Hum Genet. 2000 Dec;67(6):1605-10. doi: 10.1086/316905. Epub 2000 Nov 10.
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.
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。
