维生素D受体基因多态性与新疆南疆地区维吾尔族小儿上尿路含钙结石易感性的关系研究

Correlation between gene polymorphism of vitamin D receptor and upper urinary tract calcium stone in Uyghur children from the south of Xinjiang

目的探讨维生素D受体(VDR)基因多态性与新疆南疆地区维吾尔族小儿上尿路含钙结石的关系。方法选择新疆南疆地区维吾尔族上尿路含钙结石患儿89例(病例组)和同地区正常儿童121例(对照组),提取外周血基因组DNA,应用聚合酶链反应-限制性片段长度多态性方法检测并分析VDR的ApaI、TaqI、FokI基因多态性的分布频率及其与小儿上尿路含钙结石的关系。结果病例组和对照组VDR基因的FokI等位基因多态性分布频率差异有统计学意义(χ2=15.04;P<0.001),两组ApaI和TaqI等位基因多态性分布频率差异无统计学意义(χ2=0.350,P=0.552;χ2=2.930,P=0.093);两组FokI的基因型差异有统计学意义(χ2=11.621,P<0.001),两组ApaI和TaqI的基因型分布频率差异无统计学意义(χ2=0.287,P=0.592;χ2=2.483,P=0.115)。FokI基因型的分布频率在男性中有统计学意义(χ2=8.497,P=0.004),在女性中无统计学意义(χ2=3.230,P=0.072);ApaI和TaqI基因型分布频率无论在男性还是女性中均没有统计学意义(χ2=1.938,P=0.164;χ2=0.828,P=0.363和χ2=1.667,P=0.197;χ2=0.937,P=0.333)。结论维生素D受体(VDR)的FokI基因多态性可作为新疆维吾尔族小儿上尿路含钙结石的基因标记物,f等位基因可作为含钙结石危险因素的标志;ApaI和TaqI基因多态性与含钙结石的形成没有关系。

Objective To investigate the correlation between vitamin D receptor （VDR ）ApaI,TaqI,FokI gene polymorphism and upper urinary tract calcitum stone （UUTCaS）in uyghur children form the south of Xinjiang in China.Methods A case group of 89 Uyghur children from the south of Xinjiang where the highest prevalence proportion of urinary calcium stones was found and a control group of 1 2 1 healthy chil-dren were detected by polymerase chain reaction-restriction fragment length polymorphism to investigate VDR gene polymorphisms and susceptibility of urinary calcium stones,and analyze the correlation between VDR gene polymorphisms of ApaI,TaqI,FokI alleles and the susceptibility in Uyghur children from the south of Xinjiang.Results There are statistically significant differences （χ2=15.04;P 〈0.001）in VDR （Vitamin D receptor）FokI allele polymorphism frequencies between the case group and the control group inApaI andTaqI allele polymorphism frequencies （χ2=0.350,P=0.552;χ2=2.930,P =0.093）;VDR FokI genotype has statistically significant difference （χ2=11.621,P 〈 0.001）in the case and control groups,ApaI and TaqI genotype frequencies have no statistically significant difference（χ2=0.287,P=0.592;χ2=2.483,P=0.115）.FokI genotype frequency distribution have a significantly statistical difference （χ2=8.497,P =0.004）in male patients and control groups,no statistically significant difference in fe-males （χ2=3.230,P=0.072）;ApaI andTaqI genotype frequencies have no significantly statistical differ-ence in neither men nor women case group and the control group （χ2=1.938,P=0.164;χ2=0.828,P=0.36 andχ2=1.667,P=0.197;χ2=0.937,P=0.333）.Conclusion For diagnosis of Uygur children with urinary calcium stones in the south of Xinjiang,Vitamin D receptor （VDR）FokI gene polymorphism could be taken as the genetic markers;F allele as a marker of risk factors for calcium stones;but ApaI and TaqI polymorphism have no correlation with formation of urinary calcium stones.