Objective The purpose of this study was to investigate the relationship between P 2RX7 gene single nucleotide polymorphisms and primary gout in a Chinese Han male population .Methods The genetic distributions of the single nucleotide polymorphisms rs 2230911 , rs208294 , rs435309 and rs28360447 in P2 RX7 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 andχ2 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 P 2RX7rs2230911 between cases and controls ( P=0.012 and 0.013 , respectively ) .However , there were no sognificant differences in the other three poly-morphisms .Conclusion Our results suggest that P 2 RX7 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 .%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SNaPshot 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。
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