KCNQ1基因多态性与高尿酸血症的关联研究

目的 探讨KCNQ1基因多态性与高尿酸血症发病的关联。方法 采用病例-对照研究和SNaPshot测序技术,对120例高尿酸血症患者（高尿酸血症组）和180例健康对照者（对照组）KCNQ1基因rs179785、rs2283228及rs2237892位点多态性进行分型,并结合其临床资料、生化指标进行关联分析。结果 与对照组比较,高尿酸血症组体重指数（BMI）、收缩压、舒张压、丙氨酸氨基转移酶（ALT）、天门冬氨酸氨基转移酶（AST）、甘油三酯（TG）、尿素、肌酐（Cr）和尿酸（UA）水平较高（P <0.05）,而高密度脂蛋白（HDL）水平较低（P <0.05）;两组的葡萄糖（Glu）、总胆固醇（TC）、低密度脂蛋白（LDL）水平比较,差异无统计学意义（P >0.05）。两组rs2283228、rs2237892位点基因型分布频率比较,差异均有统计学意义（P <0.05）;与对照组比较,高尿酸血症组rs2283228位点AC基因型比例较高（P <0.017）,而rs2283228位点CC基因型和rs2237892位点TT基因型比例较低（P <0.017）;两组rs179785位点基因型分布及3个位点等位基因频率比较,差异无统计学意义（P >0.05）。无论是否调整混杂因素,rs2283228位点AC基因型均会增加高尿酸血症的发病风险,调整后［R=4.027（95% CI：1.411,11.492）,P <0.05］;rs2237892位点CT、TT基因型和T等位基因均会降低其发病风险,调整后［R=0.263（95% CI：0.094,0.738）,P <0.05］、［R=0.125（95% CI：0.024,0.647）,P <0.05］、［R=0.309（95% CI：0.147,0.652）,P <0.05］。而rs179785位点多态性与高尿酸血症的关联无统计学意义（P >0.05）。结论 KCNQ1基因rs2283228位点AC基因型可能为高尿酸血症发病的危险因素,rs2237892位点CT、TT基因型和T等位基因可能为其发病的保护因素。

Correlation analysis of KCNQ1 gene polymorphisms and hyperuricemia

Objective To explore the correlation of KCNQ1 gene polymorphisms and hyperuricemia.Methods The case-control study and the SNaPshot sequencing were used to identify KCNQ1 gene polymorphisms including rs179785, rs2283228, and rs2237892 in one hundred and twenty hyperuricemia patients as well as one hundred and eighty healthy individuals, and the correlation analysis was conducted combined with their clinical data and biochemical indicators.Results Compared with the control group, the levels of BMI, systolic blood pressure, diastolic blood pressure, ALT, AST, TG, urea, Cr, and UA were higher in the hyperuricemia group, while the level of HDL was lower (P < 0.05). There was no significant difference in Glu, CH and LDL levels between the two groups (P > 0.05). The frequencies of genotype distribution in rs2283228 and rs2237892 were significantly different between the two groups (P < 0.05). Compared with the control group, the frequency of AC genotype in rs2283228 was higher in the hyperuricemia group, while the frequencies of CC genotype in rs2283228 and TT genotype in rs2237892 were lower (P < 0.017). There was no significant difference in the frequencies of rs179785 genotypes and these three loci alleles between the two groups (P > 0.05). Whether the confounding factors were adjusted or not, the AC genotype in rs2283228 would increase the risk for hyperuricemia, the adjusted [R = 4.027 (95% CI: 1.411, 11.492), P <0.05]; The CT, TT genotypes and the T allele in rs2237892 would reduce its risk, the adjusted [R =0.263 (95% CI: 0.094, 0.738), P < 0.05], [R = 0.125 (95% CI: 0.024, 0.647), P < 0.05] and [R = 0.309 (95% CI: 0.147, 0.652), P <0.05], respectively. There was no significant difference in the correlation of rs179785 polymorphisms and hyperuricemia (P > 0.05).Conclusions The AC genotype in rs2283228 of KCNQ1 may be a risk factor for hyperuricemia, while the CT, TT genotypes and the T allele in rs2237892 of KCNQ1 may be protective factors for hyperuricemia.