神经肽S受体1基因多态性与炎症性肠病相关性的研究

摘要

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(OR:0. 441,95% CI:0. 230-0. 844)and CD involving the colon(OR:0. 425,95% CI:0. 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)(OR:15. 019,95% CI:2. 634-86. 470)and mutant C allele was correlated with CD involving the colon(OR:2. 142,95% CI:1. 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.%背景：研究表明神经肽S受体1（NPSR1）基因多态性与欧洲人群炎症性肠病（IBD）的遗传易感性相关，但尚无研究探讨两者在中国人群中的相关性。目的：探讨中国汉族人群中NPSR1基因多态性与IBD的关系。方法：收集武汉大学中南医院457例确诊IBD患者[溃疡性结肠炎（ UC）组355例，克罗恩病（ CD）组102例]和500名健康对照者，以PCR和测序技术分析NPSR1基因rs323922（ C→G突变）、rs740347（ G→C突变）位点多态性。结果：UC组与对照组间、CD组与对照组间rs323922、rs740347位点的基因型频率和等位基因频率差异均无统计学意义（ P>0.05）。基因型与IBD临床表型的相关性分析显示：①rs323922位点突变型 CG基因型与男性 CD（ OR：0.441，95% CI：0.230~0.844）和结肠型CD（OR：0.425，95% CI：0.199~0.911）相关，为保护因素。②rs740347位点突变型CC基因型与CD早期发病（<16岁）相关（ OR：15.019，95% CI：2.634~86.470），突变型C等位基因与结肠型CD相关（ OR：2.142，95% CI：1.709~4.294），两者均为危险因素。结论：NPSR1基因rs323922、rs740347位点多态性与中国汉族人群的IBD遗传易感性无关，但与IBD的某些临床表型有关。