Association of Neuropeptide S Receptor 1 Gene Polymorphisms with Inflammatory Bowel Disease / 胃肠病学

ABSTRACT

Background:Studies showed that neuropeptide S receptor 1(NPSR1)gene polymorphisms were associated with the susceptibility of inflammatory bowel disease( IBD)in Europe’s populations,however,there is no study on the relevance in Chinese population. Aims:To investigate the association of NPSR1 gene polymorphisms with IBD in Chinese Han population. Methods:A total of 457 IBD patients[355 cases of ulcerative colitis(UC)and 102 cases of Crohn’s disease ( CD)]from Zhongnan Hospital of Wuhan University and 500 healthy controls were recruited. Genotyping of 2 single nucleotide polymorphisms(SNPs)of NPSR1,rs323922(C→G mutation)and rs740347(G→C mutation)was performed by using PCR and sequencing techniques. Results:Differences of the frequencies of genotypes and alleles for rs323922 and rs740347 between UC,CD patients and controls didn’t reach statistical significance(P >0. 05). Genotype-phenotype analysis showed that there were some impact of genotypes for rs323922 and rs740347 on clinical phenotypes of IBD( i) For rs323922,mutant CG genotype was correlated with male CD patients(OR0. 441,95% CI0. 230-0. 844)and CD involving the colon(OR0. 425,95% CI0. 199-0. 911),and might be a protective factor.(ii)For rs740347,mutant CC genotype was correlated with early onset CD patients( <16 years old)(OR15. 019,95% CI2. 634-86. 470)and mutant C allele was correlated with CD involving the colon(OR2. 142,95% CI1. 709-4. 294),both were risk factors. Conclusions:Polymorphisms of NPSR1 rs323922 and rs740347 are not contributors of IBD susceptibility in Chinese Han population,but might be correlated with some clinical phenotypes of IBD.