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Neuropeptide s receptor 1 gene polymorphism is associated with susceptibility to inflammatory bowel disease. | LitMetric

AI Article Synopsis

  • The NPSR1 gene, linked to asthma and located on chromosome 7, is being studied for its association with inflammatory bowel disease (IBD) due to its expression in various organs and upregulation in inflammation.
  • A study involving 2490 subjects across Italy, Sweden, and Finland found a significant link between NPSR1 genetic variations and IBD, particularly with its forms related to Crohn's disease and ulcerative colitis.
  • Results showed that IBD patients had higher levels of NPSR1 mRNA and protein, suggesting that certain NPSR1 alleles could be genetic risk factors for chronic inflammatory conditions affecting epithelial organs.

Article 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.

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Source
http://dx.doi.org/10.1053/j.gastro.2007.06.012DOI Listing

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