新疆南部维吾尔族泌尿系结石患者维生素D受体基因多态性的研究

Vitamin D receptor gene polymorphisms in Chinese uygur patients with urolithiasis in south Xinjiang

目的:探讨维生素D受体(VDR)等位基因多态性与草酸钙尿结石之间的关系。方法:收集90例维吾尔族泌尿系结石患者(病例组)和90例维吾尔族正常对照者(对照组)。采用聚合酶链反应(PCR)和限制性酶切法研究VDR的ApaⅠ、FokⅠ等位基因多态性与尿结石之间的关系。结果:病例组与对照组之间FokⅠ酶切位点FF、Ff、ff3种基因型频率的差异有统计学意义(χ2=8.28,P<0.001),基因型FF在病例组占43.3%,明显高于对照组(30.0%),差异有显著性;ApaⅠ酶切位点病例组和正常对照组AA、Aa、aa3种基因型频率的差异有统计学意义(χ2=14.22,P<0.001),基因型Aa在病例组占63.3%,明显高于对照组(35.6%),差异亦有显著性。协同分析ApaⅠ和FokⅠ与泌尿系结石之间的关系,发现病例组FF/Aa基因型明显高于对照组,差异有显著性,病例组Ff/aa基因型明显低于对照组,差异亦有显著性。结论:VDR基因多态性与泌尿系结石有关,FF/Aa基因型可能是泌尿系结石的易感基因,而Ff/aa基因型则是泌尿系结石的保护基因。VDRFokI基因多态性有望成为筛选和检测泌尿系结石的一个指标。

Objective To explore the relationship between vitamin D receptor （VDR） gene polymorphisms and oxalate calculus in Chinese uygur people. Methods 90 uygur patients with urolithiasis （urolithiasis group） and 90 healthy controls （control group） were included in this study. The association of VDR gene variants of Apa I and Fok I with urolithiasis was determined by PCR and restriction endonuclease analysis. Results The frequency distribution of three Fok I genotypes （FF, Ff, and if） differed significantly between the two groups （X^2 = 8.28, P 〈0.001）, so did that of three Apa Ⅰ genotypes （AA, Aa, and an） （X^2 = 14.22, P 〈 0.001）. The frequencies of genotypes FF and Aa were markedly higher in the urolithiasis group than in the control group （43.3% vs 30.0% and 63.3% vs 35.6%, respectively）; the frequency of FF/Aa genotype was notably higher （31.1% vs 10.0%）, while that of Ff/aa was significantly lower （4.4% vs 22.2%）. Conclusions VDR gene polymorphism is associated with urolithiasis. FF/Aa genotype may be a susceptible gene for uolithiasis and Ff/aa a protective one. The VDR Fok I polymorphism can be a promising indicator for screening and detecting urolithiasis.