ABCG2 基因rs3114018单核苷酸多态性与武陵山地区痛风及高尿酸血症的相关性研究

目的：探讨三磷酸腺苷结合盒转运蛋白 G2 基因(ABCG2) rs3114018位点与武陵山地区原发性痛风和高尿酸血症的相关性。方法：采用Hi-SNP结合多重PCR技术和高通量测序技术，对159例原发性痛风患者、188例高尿酸血症患者和106例健康对照者的ABCG2 rs3114018位点进行基因分型，并分析不同等位基因或基因型与原发性痛风、高尿酸血症易感性的关系。结果：痛风组基因型频率与正常组相比差异具有统计学显著统计学意义（P<0.001)，Logistic回归分析显示，基因型CC和C等位基因均是痛风的易感因素(OR=5.861,95%CI:2.239~15.340,P<0.001;OR=2.461,95%CI:1.671~3.622,P<0.001）；高尿酸血症组基因型频率与正常组相比没有显著差异（P>0.05)，该位点多态与高尿酸血症没有相关性（P>0.05）；痛风组与高尿酸血症组相比，基因型频率具有统计学差异（P<0.001)，基因型CC和C等位基因分别使痛风的发生风险增加了4.131倍和1.994倍。结论：ABCG2 rs3114018位点单核苷酸多态性可能与武陵山地区原发性痛风的发病相关，等位基因C可能是原发性痛风发病的危险因素，携带CC基因型的个体可能更容易患痛风；该位点多态性与高尿酸血症没有显著相关性。

Relationship between polymorphism of rs3114018 of ABCG2 gene and primary gout and hyperuricemia in Wuling mountain area populations

Objective: To investigate the relationship between rs3114018 polymorphism of ATP-binding cassette transporter G2 gene and hyperuricemia and primary gout in Wuling mountain area populations. Methods: Totally 159 primary gout,188 hyperuricemia and 106 healthy controls were collected and Hi-SNP combined with multiplex PCR with next generation sequencing techniques were used for ABCG2 gene rs3114018 polymorphism analysis, and the relationship between different alleles or genotypes and susceptibility to primary gout and hyperuricemia were analyzed. Results: Compared with the normal group, the genotype frequencies distribution of rs3114018 in gout group was significant differently(P<0.001),genotype CC and allele C may be the susceptibility gene of gout (OR=5.861,95%CI:2.239-15.340,P<0.001；OR=2.461,95%CI:1.671-3.622,P<0.001),but the genotype frequencies distribution of rs3114018 in hyperuricemia group had no significant difference(P>0.05).Logistic regression analysis showed that rs3114018 single nucleotide polymorphism and hyperuricemia had no susceptibility (P>0.05).In addition,the genotype distribution of rs3114018 in gout group still had difference compared with hyperuricemia group (P<0.001).Logistic regression analysis showed that genotype CC and allele C increased the risk of gout by 4.131 and 1.994 times respectively.Conclusion:ABCG2 rs3114018 single nucleotide polymorphism may be associated with the incidence of primary gout in the Wuling mountain area,and allele C may be a risk factor of primary gout. Individuals with CC genotype are more likely to develop gout.However,ABCG2 rs3114018 has no impact on the risk of hyperuricemia.