维生素D受体基因SNP位点rs7975232和rs731236与云南彝族人群特发性低枸橼酸尿症的关系

Association between rs7975232 and rs731236 vitamin D receptor Gene polymorphisms and idiopathic hypocitraturia in the Yi population of Yunnan

目的探讨维生素D受体(VDR)基因单核苷酸多态性(SNP)位点rs7975232和rs731236与云南彝族人群特发性低枸橼酸尿症的关系及临床意义。方法筛选云南彝族180例特发性低枸橼酸尿症患者和108例尿枸橼酸水平正常者为对照组,通过Sanger测序法检测VDR基因SNP位点rs7975232和rs731236,并分析其与云南彝族特发性低枸橼酸尿症之间的相关性。结果云南彝族特发性低枸橼酸尿症患者组与对照组之间,VDR基因SNP位点rs7975232基因型频率差异有统计学意义(P<0.05),且在特发性低枸橼酸尿症患者组中rs7975232的AA型较对照组多见,VDR基因位点rs731236基因型频率差异无统计学意义(P>0.05)。在两组受检者的24 h尿枸橼酸含量中,rs7975232的AA基因型为(372.92±195.03)mg/24 h,明显低于rs7975232的CC、CA基因型者[(515.47±195.02)、(494.85±191.95)mg/24 h,P<0.05]。结论云南彝族特发性低枸橼酸尿症与VDR基因位点rs7975232的SNP间存在遗传相关性,VDR基因位点rs7975232的AA的基因型有望成为云南彝族特发性低枸橼酸尿症的遗传标志基因。

Objective To investigate the association between rs7975232 and rs731236 vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in the Yunnan Yi population and its clinical significance. Methods A total of 180 idiopathic hypoeitraturia patients and 108 controls with normal urinary citrate from the Yunnan Yi population were enrolled, and he association between rs7975232 and rs731236 vitamin D receptor gene polymorphisms and idiopathic hypoeitraturia was analyzed by Sanger sequence detection. Results Between patients and controls, there was significant difference in the genotype frequency of the VDR gene SNP locus rs7975232 （P 〈 0. 05）, and the genotype AA was more often in patients. The 24 - hour urinary citrate content in genotype AA [ （372. 92 ±195.03 ） mg/24 hi was significantly lower than those in genotype CC and CA [ （515.47 ±195.02） mg/24 h and （494. 85 ± 191.95）mg/24 h, respectively, P 〈 0. 05 ]. Conclusion Idiopathic hypocitraturia in the Yunnan Yi population has the association with rs7975232 vitamin D receptor gene polymorphisms, and the genotype AA may be the candidate gene.