Genotype‐phenotype analysis in childhood‐onset Crohn's disease: NOD2/CARD15 variants consistently predict phenotypic characteristics of severe disease

Introduction: 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 phenot...

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Bibliographic Details
Published in:Inflammatory bowel diseases 2005-11, Vol.11 (11), p.955-964
Main Authors: Russell, Richard K, Drummond, Hazel E, Nimmo, Elaine E, Anderson, Niall, Smith, Linda, Wilson, David C, Gillett, Peter M, McGrogan, Paraic, Hassan, Kamal, Weaver, Lawrence T, Bisset, Michael, Mahdi, Gamal, Satsangi, Jack
Format: Article
Language:English
Subjects:
Adolescent
Age of Onset
Case-Control Studies
Child
Child, Preschool
childhood
Crohn Disease - genetics
Crohn Disease - pathology
Crohn's disease
Female
Genetic Predisposition to Disease
Genotype
Humans
Infant
Infant, Newborn
Intracellular Signaling Peptides and Proteins - genetics
Male
Nod2 Signaling Adaptor Protein
NOD2/CARD15
Phenotype
Polymorphism, Single Nucleotide
Risk Factors
Scotland
Severity of Illness Index
surgery
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Summary:Introduction: 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. Patients and Methods: 906 individuals including 247 Scottish IBD patients aged
ISSN:1078-0998
1536-4844
DOI:10.1097/01.MIB.0000183423.38037.f3