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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 gene polymorphism of glucose transporter 9 (SLC2A9) and kidney stones. Methods: Forty-four patients with kidney stones and healthy controls were enrolled in this study. The rs938552 locus of SLC2A9 gene was amplified by polymerase chain reaction (PCR), and the products were sequenced by Sanger method. The levels of Ca, P), uric acid (UA) and other indicators. Differences in genotype distribution between case group and control group as well as electrolytes and uric acid levels among different gene carriers in case group were analyzed. Results: There was a significant difference in SNP rs938552 locus between the two groups (OR = 3.106; 95% CI: 1.441-6.696; χ2 = 9.000; P = 0.003) The frequency differences were also statistically significant (OR = 2.935; 95% CI: 1.440-5.981; χ2 = 9.500; P = 0.002). Serum uric acid level, urine uric acid level, urine pH value had statistical significance (P <0.05), and there was no statistical significance in C / C wild type and C / T + T / T carriers significance. Conclusion: The rs938552 polymorphism of SLC2A9 gene is associated with the risk of nephrolithiasis in eastern China. The polymorphic loci may lead to the occurrence of stones through the metabolic disorder of serum uric acid.