作者
Chengrui Huang, Suk See De Ravin, Adam R Paul, Theo Heller, Nancy Ho, Lisa Wu Datta, Christa S Zerbe, Beatriz E Marciano, Douglas B Kuhns, NIDDK IBD Genetics Consortium,, Howard A Kader, Steven M Holland, Harry L Malech, Steven R Brant
发表日期
2016/12/1
期刊
Inflammatory bowel diseases
卷号
22
期号
12
页码范围
2794-2801
出版商
Oxford University Press
简介
Background
Approximately, one-third to one-half of children with chronic granulomatous disease (CGD) develop gastrointestinal inflammation characteristic of idiopathic inflammatory bowel disease (IBD), usually Crohn's disease. We hypothesized that the overall IBD genetic risk, determined by IBD genetic risk score (GRS), might in part determine IBD development in CGD.
Methods
We reviewed medical records to establish IBD diagnoses in CGD subjects seen at NIAID. IBD risk single nucleotide polymorphism genotypes were determined using the Immunochip, and GRS were estimated by Mangrove.
Results
Among 157 white patients with CGD, 55 were confirmed, 78 excluded, and 24 were uncertain for IBD. Two hundred one established, independent European IBD risk single nucleotide polymorphisms passed quality control. After sample quality control and …
学术搜索中的文章
C Huang, SS De Ravin, AR Paul, T Heller, N Ho… - Inflammatory bowel diseases, 2016