Genotype-phenotype analysis in childhood-onset Crohn's disease: NOD2/CARDI 5 variants consistently predict phenotypic characteristics of severe disease

被引：78
作者：
Russell, RK
Drummond, HE
Nimmo, EE
Anderson, N
Smith, L
Wilson, DC
Gillett, PM
McGrogan, P
Hassan, K
Weaver, LT
Bisset, M
Mahdi, G
Satsangi, J
机构：
[1] Western Gen Hosp, Gastrointestinal Unit, Edinburgh EH4 2XU, Midlothian, Scotland
[2] Univ Edinburgh, Edinburgh, Midlothian, Scotland
[3] Royal Hosp Sick Children, Dept Child Life & Hlth, Edinburgh EH9 1LF, Midlothian, Scotland
[4] Royal Hosp Sick Children, Dept Pediat Gastroenterol & Nutr, Edinburgh EH9 1LF, Midlothian, Scotland
[5] Yorkhill Hosp, Dept Pediat Gastroenterol, Glasgow, Lanark, Scotland
[6] Univ Glasgow, Dept Child Hlth, Glasgow G12 8QQ, Lanark, Scotland
[7] Royal Aberdeen Childrens Hosp, Dept Pediat Gastroenterol, Aberdeen, Scotland
来源：
INFLAMMATORY BOWEL DISEASES | 2005年 / 11卷 / 11期
基金：
英国惠康基金;
关键词：
childhood; Crohn's disease; NOD2/CARD15; phenotype; surgery;
D O I：
10.1097/01.MIB.0000183423.38037.f3
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
The incidence of early-onset CD in Scotland is among the highest worldwide. Three single nucleotide polymorphisms (SNPs) R702W, G908R and Leu1007finsC in the NOD2/CARD15 gene predispose to adult CD. We investigated the contribution of these variants to disease susceptibility and phenotype in the Scottish early-onset IBD population.
引用
收藏
页码：955 / 964
页数：10
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