关键词: 痛风, 高尿酸血症, P2RX7, 多态性, 单核苷酸

Abstract: ObjectiveTo investigate the relationship between P2RX7 gene single nucleotide polymorphisms and primary gout and hyperuricemia in Ningbo Han male population.MethodsThe genetic distributions of the single nucleotide polymorphisms rs2230911， rs208294， rs435309， rs1718119 and rs3751143 in P2RX7 were detected in 293 primary gout patients， 187 hyperuricemia patients and 269 controls using SNaPshot technology. The susceptibility of genotypes and phenotypes to disease were assessed using logistic regression with odds ratios and 95% confidence interval(CI).The genetic distributions of each group were tested by HardyWeinberg equilibrium (HWE). SHEsis soft was used to calculate linkage disequilibrium blocks and haplotype association risk.ResultsThree SNPs (rs2230911， rs208294 and rs435309) followed the HardyWeinberg equilibrium (P>0.05). Compared with the control group， the frequencies of rs2230911 genotypes in patient with primary gout were significantly different (P=0.002). In addition，allele G had a higher frequency in primary gout compared with control (OR=1.755，95%CI=1.278   2.410，P<0.001). There was also a higher frequency of genotype (CG+GG) in primary gout compared with control group(OR=1.876，95%CI=1.303  2.701，P=0.001). ConclusionP2RX7 rs2230911 might be associated with primary gout risk in Ningbo Han male population. Moreover， allele G might be a susceptibility factor for primary gout. The research  provided a new target for primary gout diagnosis and treatment.

Key words: gout；hyperuricemia；P2RX7； polymorphism, single nucleotide