维生素D受体基因多态性与草酸钙尿结石的关系  

Relationship between vitamin D receptor allele polymorphism and calcium oxalate stone disease

作　　者：胡少群[1] 刘继红[1] 王少刚[1] 曹正国[1] 吴维[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院泌尿外科

出　　处：《中华泌尿外科杂志》2004年第3期155-158,共4页Chinese Journal of Urology

基　　金：国家自然科学基金资助项目 ( 3 0 2 0 0 2 83 )

摘　　要：目的　探讨维生素D受体 (VDR)等位基因多态性与草酸钙尿结石之间的关系。　方法　非高钙尿结石患者 15 0例 ,高钙尿结石患者 36例 ,正常对照 90例。采用聚合酶链反应 (PCR)和限制性酶切法研究VDR的Taq1、Apa1、Fok1等位基因多态性与草酸钙尿结石之间的关系。　结果　两个结石组分别与对照组比较 ,VDR的Fok1启动子等位基因多态性分布差异有显著性意义 (P <0 .0 5 )。ff型等位基因 (Fok1等位基因有 2个酶切位点的纯合子出现 2个月条带 )人群中对照组、非高钙尿结石组及高钙尿结石组 2 4h尿钙含量分别为 (0 .0 5 1± 0 .0 0 4 )、(0 .0 74± 0 .0 0 4 )和 (0 .135± 0 .0 11)mmol/kg,FF型人群 3组分别为 (0 .0 31± 0 .0 0 3)、(0 .0 32± 0 .0 0 3)和 (0 .10 8± 0 .0 14 )mmol/kg,差异有显著性意义 (P <0 .0 5 )。Apa1、Taq1的基因多态性分布在各组之间差异无显著性意义 (P >0 .0 5 )。　结论　VDR的启动子Fok1基因多态性可作为鉴别草酸钙尿结石病因的基因标记物 ,ff型等位基因可作为含钙结石危险因素的标志 ,草酸钙尿结石与VDR基因内含子 8(Apa1)及外显子 9(Taq1)多态性无关。Objective To investigate the correlation between vitamin D receptor(VDR) allele polymorphism and calcium oxalate stone disease. Methods Three groups of subjects were included.150 patients with calcium oxalate stones,36 patients with idiopathic hypercalciuria calculi and 90 healthy controls were examined respectively. Polymerase chain reaction (PCR) and restriction endonuclease analysis were used.The relationship was evaluated between VDR gene polymorphism of Taq1, Apa1, Fok1 alleles and calcium oxalate stone disease (including hypercalciuria). Results The genotype frequency distribution of Fok1 start codon allele polymorphism in the 2 stone groups (hypercalciuria and non-hypercalciuria) was significantly different from that in the control group.The genotype frequency of ff allele in the 2 stone groups (hypercalciuria and non-hypercalciuria) was markedly higher than that in the control group (P<0.05).The 24-hour urine calcium in the ff allele individuals[(0.051±0.004)mmol/kg in the control group,(0.074± 0.004)mmol/kg in the stone non-hypercalciuria group,and (0.135±0.011)mmol/kg in the stone hypercalciuria group,respectively] was significantly higher than that of the FF allele individuals in each group[( 0.031± 0.003)mmol/kg in the control group,(0.032± 0.003)mmol/kg in the non-hypercalciuria stone group,and (0.108±0.014)mmol/kg in the hypercalciuria stone group,respectively](P<0.05). There was no statistically significant difference among the 3 groups for the genotype frequency distribution of Taq1,Apa1 allele polymorphism(P>0.05). Conclusions VDR Fok1 start codon alleles polymorphisms may be correlated with calcium oxalate stone disease, and may be a good genetic marker for calcium oxalate stone disease,and the ff allele may be a risk genotype of urinary calculus.

关 键 词：尿结石 等位基因 基因多态性 维生素D受体 草酸钙结石 高钙尿症 聚合酶链反应 

分 类 号：R691.4[医药卫生—泌尿科学]