IBD5 polymorphisms in inflammatory bowel disease： Association with response to infliximab

AIM: Inflammatory bowel diseases (IBD) are multifactorial pathologies of unknown etiology. One susceptibility locus, IBD5, has been mapped to chromosome 5q31. We analyzed our Spanish cohorts of Crohn's disease (CD) and ulcerative colitis (UC) patients to determine whether this locus is associat...

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Bibliographic Details
Published in:World journal of gastroenterology : WJG 2005-02, Vol.11 (8), p.1187-1192
Main Author: Urcelay, Elena
Format: Article
Language:English
Subjects:
5q31
Adult
Antibodies, Monoclonal - therapeutic use
Brief Reports
Chromosomes, Human, Pair 5
Colitis, Ulcerative - drug therapy
Colitis, Ulcerative - epidemiology
Colitis, Ulcerative - genetics
Crohn Disease - drug therapy
Crohn Disease - epidemiology
Crohn Disease - genetics
Female
Gastrointestinal Agents - therapeutic use
Gene Frequency
Genetic Predisposition to Disease - epidemiology
Genotype
Humans
Infliximab
Intracellular Signaling Peptides and Proteins - genetics
Male
Nod2 Signaling Adaptor Protein
Polymorphism, Genetic
Risk Factors
基因多态性
大肠炎
炎症性肠病
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Summary:AIM: Inflammatory bowel diseases (IBD) are multifactorial pathologies of unknown etiology. One susceptibility locus, IBD5, has been mapped to chromosome 5q31. We analyzed our Spanish cohorts of Crohn's disease (CD) and ulcerative colitis (UC) patients to determine whether this locus is associated with IBD, and to ascertain the main clinical phenotype influenced by this risk factor. The kind of interaction, either genetic heterogeneity or epistasis, between this IBD5 susceptibility region and the NOD2/CARD15 gene mutations was studied as well. Finally, we assessed whether this locus can predict response to infliximab therapy. METHODS: A case control study was performed with 274 CD and 211 UC patients recruited from a single center and 511 healthy ethnically matched controls. Two polymorphisms were genotyped in the IBD5 locus and three in the CARD15/NOD2 gene. RESULTS: Our results evidence association only with CD especially with the fistulizing phenotype and in the absence of NOD2/CARD15 variants (mutant allele frequency in patients vs controls: OR = 2.03, 95% CI = 1.35-3.06, P
ISSN:1007-9327
2219-2840
DOI:10.3748/wjg.v11.i8.1187