维生素D受体基因Fok Ⅰ和Taq Ⅰ位点单核苷酸多态性与特发性低枸橼酸尿症的关系

Association between Fok Ⅰ and Taq Ⅰ Vitamin D Receptor Gene Polymorphisms and Idiopathic Hypocitraturia

目的探讨维生素D受体(VDR)基因FokⅠ和TaqⅠ位点单核苷酸多态性与特发性低枸橼酸尿症的关系及其临床意义。方法筛选特发性低枸橼酸尿症患者31名,50名尿枸橼酸水平正常者为对照组,通过PCR-RFLP技术检测VDR基因FokⅠ及TaqⅠ位点单核苷酸多态性,并分析其与特发性低枸橼酸尿症之间的相关性。结果特发性低枸橼酸尿症患者组与对照组之间,VDR基因FokⅠ位点及TaqⅠ位点各基因型频率差异具有统计学意义(均P<0.05),在特发性低枸橼酸尿症患者组中ff和TT型较为多见。并且,在两组人群中24 h尿枸橼酸含量,基因型为ff和TT者分别为(1.91±1.03)、(1.90±0.96)mmol/24 h,明显低于FF、Ff、Tt和tt基因型者[(2.67±1.02)、(2.55±0.95)(、2.58±0.98)(、2.72±1.05)mmol/24 h,P<0.05)。结论特发性低枸橼酸尿症与VDR-FokⅠ及VDR-TaqⅠ单核苷酸多态性间存在遗传相关性,VDR基因FokⅠ位点的ff型基因和TaqⅠ位点的TT型基因有望成为特发性低枸橼酸尿症的遗传标志基因。

Objective To investigate the relationship between Fok I vitamin D receptor（VDR）and Taq I vitamin D re- ceptor polymorphism and idiopathic hypocitraturia respectively. Methods Eighty-one volunteers were divided into 2 groups：50 volunteers with normal urine citrate（N）;31 volunteers with idiopathic hypocitraturia（L）. The polymorphisms of Fok I VDR and Taq I VDR were detected by using PCR-RFLP technique and their correlations were analyzed. Results A different distribution（P〈0.05）of Fok I VDR and Taq I VDR genotypes was found in L group as compared with N group. The prevale;fice of ff VDR and TT VDR genotypes in L group was significantly higher than in N group,and the average urinary 24-h citrate excretion in ff VDR [ （1.91±1.03）mmol/24 hi and TT VDR [ （1.90±0. 96）mmol/24 h]genotypes was significantly lower than that in FF [-（2.67!1.02）mmol/24 h]/Ff [（2.55±0.95）mmol/24 h] VDR and Tt [（2.58±0.98）mmol/24 h]/tt [（2.72± 1.05）mmol/24 hi VDR genotypes（all P〈0.05） respectively. Conclusion There exists a genetic association between Fok I / Taq I VDR polymorphisms and idiopathic hypocitraturia. The genotypes ff of Fok I VDR and TT of Taq I VDR are hoped to become the heredity marks of idiopathic hypocitraturia.