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

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

摘要:

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。

Abstract:

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.