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Detection of SNPs in the intron 9 region of NOD1 gene in ulcerative colitis patients of North India.
MedLine Citation:
PMID:  21722177     Owner:  NLM     Status:  Publisher    
Background The nucleotide-binding oligomerization domain1 (NOD1) gene encodes a pattern recognition receptor that senses pathogens. NOD1/CARD4 signaling leads to activation of nuclear factor-kB, and plays an important role in innate immunity. Certain polymorphisms and mutations in NOD1/CARD4 may result in dysfunctional innate immune response during bacterial recognition which may have direct implications in IBD pathogenesis. Methods We carried out a systemic analysis for the presence of polymorphic variants in the intron 9 region of LRR domain encompassing the exon-intron boundaries of NOD1 gene, To detect unknown SNPs, we used Denaturing High Performance Liquid Chromatography (DHPLC) screening technique and validated our data by RFLP and direct sequencing. Result Genotype and allele frequencies showed significant differences in their distribution. The mutations discriminating alleles in the intron 9 region of LRR domain of Nod1 gene were correctly predicted by DHPLC technique and statistically varified in patients and non IBD individuals. Out of seven mutations detected, only four showed significant association with the disease activity. Mutations detected earlier in exon 6 region of NOD1 were also used for haplotype analysis. GTTG haplotype was found to be significantly over represented in UC patients as compared to controls (p = 3.3726E(-6) ). Conclusion Our study has revealed association of polymorphism in the LRR domain of NOD1 gene with the severity of the Ulcerative colitis disease. This may be due to disruption of the LRR region critical for Nod1 mediated bacterial sensing. A gene-wide haplotype-based approach shows that GTTG haplotype carriers over represented in UC patients that may increase the risk of the disease.
Ravi Verma; Vineet Ahuja; Jaishree Paul
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-1
Journal Detail:
Title:  Journal of gastroenterology and hepatology     Volume:  -     ISSN:  1440-1746     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-4     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:
© 2011 Journal of Gastroenterology and Hepatology Foundation and Blackwell Publishing Asia Pty Ltd.
School of Life Sciences, Jawaharlal Nehru University, New Delhi 110067, India. Department of Gastroenterology, All India Institute of Medical Sciences, New Delhi, India.
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