Association of DLG5 R30Q variant with inflammatory bowel disease

被引：58

作者：

Daly, MJ

Pearce, AV

Farwell, L

Fisher, SA

Latiano, A

Prescott, NJ

Forbes, A

Mansfield, J

Sanderson, J

Langelier, D

Cohen, A

Bitton, A

Wild, G

Lewis, CM

Annese, V

Mathew, CG

Rioux, JD

机构：

[1] MIT, Broad Inst, Cambridge, MA 02139 USA

[2] Harvard Univ, Cambridge, MA 02139 USA

[3] Guys Kings & St Thomas Sch Med, Dept Med & Mol Genet, London, England

[4] IRCCS Hosp, CSS, San Giovanni Rotondo, Italy

[5] St Marks Hosp, Harrow, Middx, England

[6] Univ Newcastle Upon Tyne, Dept Gastroenterol & Hepatol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[7] Guys & St Thomas Hosp, Dept Gastroenterol, London SE1 9RT, England

[8] Montreal Jewish Gen Hosp, Montreal, PQ, Canada

[9] Ctr Hosp Sherbrooke, Sherbrooke, PQ, Canada

[10] McGill Univ, Ctr Hlth, Dept Gastroenterol, Montreal, PQ, Canada

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2005年 / 13卷 / 07期

基金：

英国惠康基金;

关键词：

IBD; DLG5; association; R30Q;

D O I：

10.1038/sj.ejhg.5201403

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the gastrointestinal system known as the inflammatory bowel diseases (IBD). Recently, Stoll and colleagues reported a novel finding of genetic variation in the DLG5 gene that is associated with IBD (CD and UC combined). We present here a study of the genetic variation described in that report in two well-powered, independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. We are, however, unable to replicate the other proposed association to the common haplotype described in Stoll et al and suggest that this other finding could conceivably have been partially a statistical fluctuation and partially a result of LD with the replicated R30Q association. This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect.

引用

页码：835 / 839

页数：5

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