作者
Jochen Hampe, Jochen Grebe, Susanna Nikolaus, Camilla Solberg, Peter JP Croucher, Silvia Mascheretti, Jörgen Jahnsen, Björn Moum, Bodo Klump, Michael Krawczak, Muddassar M Mirza, Ulrich R Foelsch, Morten Vatn, Stefan Schreiber
发表日期
2002/5/11
期刊
The Lancet
卷号
359
期号
9318
页码范围
1661-1665
出版商
Elsevier
简介
Background
Crohn's disease is a heterogeneous disorder for which NOD2 (CARD 15) has been identified as a susceptibility gene. We investigate the relation between NOD2 genotype and phenotypic characteristics of patients with Crohn's disease.
Methods
Hypotheses about the relation between NOD2 genotype and Crohn's disease phenotype were generated retrospectively from a group of 446 German patients with this disorder. Positive findings (p<0·10) were verified in prospectively established cohorts of 106 German and 55 Norwegian patients with Crohn's disease. All patients were genotyped for the main coding mutations in NOD2, denoted SNP8, SNP12, and SNP13, with Taqman technology.
Findings
In the retrospective cohort, six clinical characteristics showed noteworthy haplotype association: fistulising, ileal, left colonic and right colonic disease, stenosis, and resection. In the German prospective cohort …
引用总数
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J Hampe, J Grebe, S Nikolaus, C Solberg… - The Lancet, 2002