新疆地区维吾尔族人群草酸钙结石与Klotho基因rs139912465多态性相关研究

Study on association of calcium oxalate stones and Klotho gene polymorphism in Uighur population of Xinjiang region

目的探讨Klotho基因rs139912465多态性与新疆地区维吾尔族人群草酸钙结石发病风险的相关性。方法采用聚合酶链式反应-限制性片段长度多态性分析(PCR-RFLP)方法检测128例新疆地区维吾尔族草酸钙结石患者(病例组)和94例正常人群(对照组)的Klotho基因多态性的基因型和等位基因的分布,并对比分析及相关性研究。结果检测Klotho基因SNP rs139912465一个位点,其基因型分布差异无统计学意义,等位基因分布差异无统计学意义(Or=1,95%CI:NA,P:NA),其中病例/对照组中等位基因频率分别为A=256(100.0%)/188(100%),G=0。结论 Klotho基因rs139912465多态性与新疆地区维吾尔族人群草酸钙结石发病无相关性,可能不是草酸钙结石发病的危险因子。

Objective To explore the association of calcium oxalate stones and Klotho gene polymorphism rs139912465 in Uighur population in Xinjiang region. Methods Klotho gene polymorphism was genotyped by polymerase chain reaction- restriction fragment length polymorphism analysis（ PCR- RFLP） method in 128 patients with calcium oxalate stones（ patient group） and 94 normal persons（ control group） and the distribution of allele and comparative analysis of genotype had been performed. Results SNP rs139912465 of Klotho gene had been detected in patients group and control group,the genotype distribution of three loci were in compliance with Hardy- Weinberg equilibrium. For Klotho gene rs139912465 polymorphism,the statistical result of its genotype was Or = 1,95% CI： NA,P： NA,the statistical result of its allele was Or = 1,95% CI： NA,P： NA,allele frequencies of patient / control group were A = 256（ 100. 0%） /188（ 100%）,G = 0. Conclusion The rs139912465 polymorphism of Klotho gene may not associate with the risk of calcium oxalate urolithiasis in Xinjiang region,and it may not be the risk factor in pathogenesis of calcium oxalate stones.