SLC2A9基因rs938552位点SNP多态性与肾结石的相关性研究

Research on the relationship between SLC2A9 gene polymorphism in rs938552 and nephrolithiasis

目的:探讨葡萄糖易化转运蛋白9(SLC2A9)基因多态性与肾结石的相关性。方法:选择肾结石患者及健康对照组各140例,用聚合酶链式反应(PCR)扩增SLC2A9基因rs938552位点序列,Sanger法测序扩增产物;检测病例组血尿钙(Ca)、磷(P)、尿酸(UA)等指标。分析病例组与对照组中基因型分布差异以及病例组中不同基因携带者的电解质、尿酸水平的差异。结果:SLC2A9基因SNPrs938552位点多态性,其两组基因型分布差异有统计学意义(OR=3.106;95%CI:1.441~6.696;χ2=9.000;P=0.003);等位基因C、T频率差异亦有统计学意义(OR=2.935;95%CI:1.440~5.981;χ2=9.500;P=0.002)。病例组中C/C野生型与C/T+T/T基因携带者比较,血清尿酸水平、尿液尿酸水平、尿液pH值水平差异有统计学意义(P<0.05),余无统计学意义。结论:SLC2A9基因rs938552位点多态性与华东地区人群患肾结石的风险有关联性,该多态位点可能通过血清尿酸的代谢障碍导致结石的发生。

Objective： To investigate the relationship between SLC2A9 gene polymorphism in rs938552 and nephrolithiasis. Method： SLC2A9 gene polymorphism in rs938552 was investigated in 140 patients with renal stone formation （case group） and 140 age-matched healthy volunteers without history of renal stone formation （control group）, using polymerase chain reaction and Sanger sequence detection, and the genotype distribution was compared between the two groups. The levels of calcium （Ca）, phosphorus （P）, uric acid （UA） in the blood and urine were measured in each nephrolithiasis subject, and were compared among different genotypes. Result： For SLC2A9 gene rs938552 polymorphism, the statistical results of its genotype were odds ratio （OR） = 3. 106, 95% confidence interval （CI）： 1.441-6.696, χ^2=9.000, P=0.003. The statistical results of the frequencies of C and T were OR= 2. 935, 95% CI： 1.440-5.981, χ^2=9.500, P=0.002. In the case group, there was significant difference （P〈 0.05） in serum UA level, urine UA level and urinary PH value level Between CC wild type and CT ＋ TT geno type carriers. Conclusion： The rs938552 polymorphism of SLC2A9 gene was associated with the risk of nephrolithiasis in East China, and it may lead to the occurrence of kidney stones through the metabolic disorder of serum uric acid.