维生素D受体基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性研究

目的：探讨维生素D受体（VDR）基因多态性与新疆南部地区维吾尔族儿童尿路结石相关性，阐明分子遗传学规律。方法：维吾尔族尿路结石患儿（病例组）74例和维吾尔族正常儿童（对照组）103例纳入此研究，应用聚合酶链反应-限制性片段长度多态性分析研究VDR基因FokI和ApaI位点多态性与新疆南部地区维吾尔族儿童尿路结石相关性。结果：VDR基因FokI位点FF、Ff、ff 3种基因型在病例组及对照组之间分布差异有统计学意义（χ2=7.818, P＜0.05），基因型Ff在病例组占58%，明显高于对照组，差异有统计学意义（P＜0.05）。VDR基因ApaI位点AA、Aa、aa 3种基因型在病例组和对照组的分布差异无统计学差意义（P>0.05）。结论：VDR基因FokI位点多态性将来可作为维吾尔族儿童泌尿系结石的候选基因。

Association of vitamin D receptor gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang, China

Objective To investigate the association of vitamin D receptor(VDR) gene polymorphisms with urolithiasis in Uyghur children from southern Xinjiang,China,and to clarify the molecular genetic mechanism for the disease.Methods Seventy-four Uygur children with urolithiasis(case group) and 103 healthy Uyghur children(control group) were enrolled as subjects.Polymerase chain reaction-restriction fragment length polymorphism was used to analyze the association of VDR gene FokI and ApaI polymorphisms with urolithiasis in Uyghur children from southern Xinjiang.Results There were significant differences in FokI genotypes(FF,Ff and ff) between the case and control groups(χ2=7.818,P<0.05).The genotype Ff accounted for 58% of all genotypes in the case group,and Ff was significantly more prevalent in the case group than in the control group(P<0.05).There were no significant differences in ApaI genotypes(AA,Aa,and aa) between the case and control groups.Conclusions The polymorphisms of VDR gene FokI may be a suitable genetic marker for urolithiasis in Uyghur children.