Neuropeptide S Receptor 1 Gene Polymorphism is Associated with Susceptibility to Inflammatory Bowel Disease.
From: Strategic Research Center IRIS, Karolinska Institutet, Stockholm, Sweden. mauro.damato@ki.se
Gastroenterology
- Publish Date: Sep 2007
- ISSN: 0016-5085
- Volume: 133
- Issue: 3
- Pages: 808-17
- Medium: Print
- Language: English
- Citation (JAMA): D'Amato Mauro, Bruce Sara, Bresso Francesca, et al. Neuropeptide S Receptor 1 Gene Polymorphism is Associated with Susceptibility to Inflammatory Bowel Disease.. Gastroenterology Sep 2007;133:808-17
Abstract
BACKGROUND & AIMS: The neuropeptide S receptor (NPSR1) gene has been associated recently with asthma and maps in a region of chromosome 7 previously linked also to inflammatory bowel disease (IBD). NPSR1 is expressed on the epithelia of several organs including the intestine, and appears to be up-regulated in inflammation. We tested NPSR1 gene polymorphism for association with IBD and verified whether the expression of its 2 major isoforms (NPSR1-A and NPSR1-B) is altered in the intestine of IBD patients. METHODS: Eight NPSR1 polymorphisms were genotyped in 2490 subjects from 3 cohorts of IBD patients and controls from Italy, Sweden, and Finland. Real-time polymerase chain reaction and immunohistochemistry were used to quantify NPSR1 messenger RNA (mRNA) and protein expression in intestinal biopsy specimens from IBD patients and controls. RESULTS: Global analysis of the whole dataset identified strong association of a NPSR1 haplotype block with IBD (P = .0018) and its 2 major forms: Crohn’s disease (CD) (P = .026) and ulcerative colitis (UC) (P = .003). Genetic effects caused by individual haplotypes were identified mainly for the predisposing haplotype H2 in CD (P = .0005) and the protective haplotype H8 in UC (P = .003). NPSR1 mRNA and protein levels were increased in IBD patients compared with controls, and the risk haplotype H2 correlated with higher expression of both NPSR1-A (P = .024) and NPSR1-B (P = .047) mRNAs. CONCLUSIONS: NPSR1 polymorphism is associated with IBD susceptibility. Specific NPSR1 alleles might act as genetic risk factors for chronic inflammatory diseases of the epithelial barrier organs.
Mesh Headings (Keywords): Adult, Biopsy, Case-Control Studies, Colitis, Ulcerative, Crohn Disease, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Inflammatory Bowel Diseases, Intestines, Male, Middle Aged, Polymorphism, Single Nucleotide, RNA, Messenger, Receptors, G-Protein-Coupled, Risk Factors
Check for Full Text / PubMed Unique Identifier (PMID): 17854592
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