中国西南地区汉族人群PRSS1基因多态性与慢性胰腺炎的关系

摘要

Objective To investigate the association between PRSS1 single nucleotide polymorphism (SNP) and chronic pancreatitis (CP) in southwestern Chinese Han population.Methods Genomic DNA was prepared from 384 individuals with CP (CP group) and 480 healthy controls (control group).Three SNPs in the PRSS1 gene (rs10273639,rs6667 and rs2011216) were selected by case-control study.The SNPs were detected by single-base extension method and their correlation with CP was analyzed.Results All three SNPs conformed to Hardy-Weinberg equilibrium (all P ＞ 0.05).The G allele frequencies of rs6667 and rs2011216 were 37.8％,33.2％,29.8％ and 26.5％ in the CP group and control group,respectively.The GG genotype frequencies were 14.1％,10.4％,7.5％ and 6.0％ (all P ＜ 0.05).The allele and genotype of rs10273639 had no significant difference between the CP group and control group (all P ＞ 0.05).Binary logistic regression analysis showed that the risk of CP in rs6667 G allele was 1.18 times more than that in A allele,while in the dominant model [(AG + GG) vs AA] and recessive model [GG vs (AG + AA)] it was 1.18-fold and 1.76-fold higher in CP group than that of the control group,respectively.In the risk of developing CP,rs2011216 G allele carriers were1.16 times as high as the A allele carriers.In the dominant model [(AG + GG) vs AA] and recessive model [GG vs (AG + AA)],the risk of CP group was 1.17 times and 1.34 times higher than that of the control group,respectively.In addition,rs10273639 was not associated with CP susceptibility (P ＞ 0.05).Conclusion The rs6667 and rs2011216 loci of the PRSS1 gene may be associated with chronic pancreatitis among southwestern Chinese Han population.%目的 探讨中国西南地区汉族人群中阳离子胰蛋白酶原(PRSS1)基因单核苷酸多态性(SNP)与慢性胰腺炎(CP)的关系.方法 收集西南地区汉族人群样本864例,其中确诊CP患者384例(CP组),体检健康者480例(对照组);选取PRSS1基因rs10273639、rs6667和rs2011216 3个位点,采用单碱基延伸法检测SNP位点,分析其与CP的相关性.结果 rs6667位点G等位基因频率在CP组和对照组中分别为37.8％、29.8％,GG基因型频率分别为14.1％、7.5％,两组比较P均＜0.05;rs2011216位点G等位基因频率在CP组和对照组中分别为33.2％、26.5％,GG基因型频率分别为10.4％、6.0％,两组比较P均＜0.05;rs10273639等位基因及基因型在CP组与对照组比较差异无统计学意义.二元Logistic回归分析,rs6667位点G等位基因携带者患CP的风险是A等位基因的1.18倍,在显性模式[(AG+GG)vs AA]和隐性模式[GG vs(AG+ AA)]下CP组患病风险分别是对照组的1.18、1.76倍;rs2011216位点G等位基因携带者患CP的风险是A等位基因的1.16倍,在显性模式[(AG+ GG)vs AA]和隐性模式[GG vs(AG+ AA)]下CP组患病风险分别是对照组的1.17、1.34倍;rs10273639位点下显性模式[(TC+ CC)vsTT]和隐性模式[CC vs(TC +TT)]在CP组与对照组比较差异均无统计学意义.结论 PRSS1基因rs6667和rs2011216的SNP位点可能是中国西南地区汉族人群CP的易感基因位点.