广东医学2016，Vol.37Issue(17)：2580-2584,5.
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
between rs7975232 and rs731236 vitamin D receptor Gene polymorphisms and idiopathic hypocitratu-ria in the Yi population of Yunnan
摘要
Abstract
Objective To investigate the association between rs 7975232 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 hypocitraturia patients and 108 controls with normal urinary citrate from the Yunnan Yi population were enrolled, and he association between rs 7975232 and rs731236 vitamin D receptor gene polymorphisms and idiopathic hy-pocitraturia 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 rs 7975232 (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 h] 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 rs 7975232 vita-min D receptor gene polymorphisms , and the genotype AA may be the candidate gene .关键词
云南彝族/维生素D受体/单核苷酸多态性/特发性低枸橼酸尿症/桑格测序Key words
Yunnan Yi population/vitamin D receptor/single nucleotide polymorphism/idiopathic hypocitratu-ria/Sanger sequence引用本文复制引用
李康健,莫茵,申吉泓,刘孝东,罗钰辉,李颢..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[J].广东医学,2016,37(17):2580-2584,5.基金项目
国家自然科学基金资助项目（编号81460141），云南省科技厅－昆明医科大学联合专项基金项目 （）
