P2RX7基因多态性与中国汉族男性原发性痛风的相关性

Association between P2RX7 Gene Polymorphisms and Susceptibility to Primary Gout in a Chinese Han Male Population

目的探讨P2RX7基因四个位点(rs2230911、rs208294、rs435309和rs28360447)的单核苷酸多态性与我国汉族男性原发性痛风发病的相关性。方法选取219例男性原发性痛风患者和247例男性健康对照者,用SNa Pshot SNP分型技术对P2RX7基因四个位点的多态基因型进行检测。用Hardy-Weinberg平衡检验研究对象的基因型,P>0.05认为所选研究对象达到遗传平衡,具有可靠的群体代表性。用SPSS 18.0统计学软件对实验所得数据进行统计学处理,符合正态分布的计量资料比较用t检验或方差分析;计数资料比较则用卡方检验。用Logistic回归分析计算比值比(OR)及95%可信区间(95%CI),估计痛风发病的相对风险。双侧P<0.05认为差异有统计学意义。结果 P2RX7基因rs2230911、rs208294和rs435309三个位点在研究人群中符合哈迪-温伯格遗传平衡定律(P>0.05)。其中rs2230911位点基因型CG+GG发生痛风的风险是基因型CC的1.79倍[OR(95%CI)=1.79(1.20,2.67),P=0.005]。等位基因G发生痛风的风险是等位基因C的1.56倍[OR(95%CI)=1.56(1.10,2.21),P=0.013]。其余位点在两组基因型及等位基因的分布频率差异无统计学意义(P>0.05)。结论 P2RX7基因rs2230911位点多态性可能与我国汉族男性原发性痛风发病相关,等位基因G是痛风发病的危险因素。

Objective The purpose of this study was to investigate the relationship between P2RX7 gene single nucleotide polymorphisms and primary gout in a Chinese Han male population. Methods The genetic distributions of the single nueleotide polymorphisms rs2230911, rs208294, rs435309 and rs28360447 in P2RX7 were detected in 219 primary gout patients and 247 controls using SNaPshot technology. Differ- ences in clinical data and polymorphisms between the case and control groups were measured using the Student＇s t-test and X2 test. The susceptibility of genotypes and phenotypes to disease was assessed using Logistic regression with odds ratios and 95% confidence intervals. Results There were significant differences in genotypic and allelic frequencies of P2RX7 0. 012 and 0. 013, respectively）. However, there were no rs2230911 between cases and controls （P = sognificant differences in the other three poly- morphisms. Conclusion Our results suggest that P2RX7 rs2230911 may be associated with risk of pri- mary gout in a Chinese Han male population and allele G may be a susceptibility factor for primary gout.