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Common Variants in NOD2 and IL23R are not Associated with Inflammatory Bowel Disease in Indian Patients.
MedLine Citation:
PMID:  21155887     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Background and Aim Ulcerative colitis and Crohn's disease are two major phenotypes of inflammatory bowel disease that present with inflammation of the colon or the entire gastrointestinal tract respectively. Genome-wide association studies have confirmed the role of NOD2 variants and identified several genes associated with inflammatory bowel disease. We investigated whether variants in NOD2 and IL23R are associated with inflammatory bowel disease in a well-characterized case-control cohort from southern India. Subject and methods We recruited 652 patients (411 Ulcerative colitis and 241 Crohn's disease) using established diagnostic criteria and 442 age, sex and ethnically matched normal subjects. We screened by direct sequencing, the complete NOD2 gene and genotyped the R381Q variant in IL23R and performed association analysis and genotype-phenotype correlation analysis. Results The clinical presentation of Ulcerative colitis and Crohn's disease patients didn't differ significantly from the Europeans. We observed a monomorphic status for three common disease susceptibility variants, R702W, G908R and 1007fs in NOD2, while 3 other SNPs, P268S, R459R and R587R had a comparable minor allele frequency in patients and controls. Compared to Europeans, we found a low frequency (∼1%) of the protective allele at R381Q in IL23R and no statistically significant association with inflammatory bowel disease (OR = 0.87; 95%CI = 0.26-2.86; P > 0.05). Conclusions Our study suggests that variants in NOD2 gene and the protective variant R381Q in IL23R are not associated with inflammatory bowel disease in Indians. Additional variants in these or other candidate genes may play a major role in the pathophysiology of inflammatory bowel disease in Indians.
Authors:
Swapna Mahurkar; Rupa Banerjee; S Vasantha Rani; Nikita Thakur; Venkat Rao Guduru; Nageshwar Reddy Duvvuru; Giriraj Ratan Chandak
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-10-26
Journal Detail:
Title:  Journal of gastroenterology and hepatology     Volume:  -     ISSN:  1440-1746     ISO Abbreviation:  -     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-12-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8607909     Medline TA:  J Gastroenterol Hepatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2010 Journal of Gastroenterology and Hepatology Foundation and Blackwell Publishing Asia Pty Ltd.
Affiliation:
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad-500 007. INDIA Institute of Basic Sciences, Asian Institute of Gastroenterology, Punjagutta, Hyderabad-500 056. INDIA.
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