The IBD2 locus shows linkage heterogeneity between ulcerative colitis and Crohn disease

被引：71

作者：

Parkes, M

Barmada, MM

Satsangi, J

Weeks, DE

Jewell, DP

Duerr, RH

机构：

[1] Univ Oxford, Radcliffe Infirm, Nuffield Dept Med, Gastroenterol Unit, Oxford OX2 6HE, England

[2] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX2 6HE, England

[3] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

[4] Univ Pittsburgh, Sch Med, Dept Med, Pittsburgh, PA 15261 USA

[5] Univ Pittsburgh, Sch Med, Dept Genom Sci, Pittsburgh, PA 15261 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2000年 / 67卷 / 06期

关键词：

D O I：

10.1086/316905

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1605 / 1610

页数：6

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