Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease
Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease
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DOI：
10.1046/j.1464-410x.2001.02074.x
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发表时间：
2001-02-01
影响因子：
4.5
通讯作者：
Tsai, FJ
中科院分区：
文献类型：
--
作者：
Chen, WC;Chen, HY;Tsai, FJ
目的探讨维生素D受体基因（VDR）起始密码子最常见的多态性——Fok I多态性在尿石症病因诊断中的应用价值。患者、对象与方法：对正常对照组90例健康者和草酸钙结石患者146例进行检查。采用聚合酶链反应（PCR）为基础的限制性内切分析方法，评价Fok I多态性与尿石症的关系。鉴定出全长265 bp的不可切除片段（等位基因CC），鉴定出长度为169 bp和96 bp的可切除片段（等位基因TT）。结果两组间VDR Fok I启动密码子多态性基因型差异有统计学意义（χ 2检验，P < 0.05）。结石风险人群中C等位基因的比值比（95%置信区间）为1.672（1.149-2.432）。结论VDR Fok I起始密码子多态性可能是草酸钙结石病的一个很好的遗传标记。
Objective To assess the use of Fok I polymorphism (the most frequent polymorphism, at the start codon of the vitamin D receptor gene, VDR) as a convenient genetic marker in identifying the cause of urolithiasis.Patients, subjects and methods A normal control group of 90 healthy subjects and 146 patients with calcium oxalate stones were examined. Using polymerase chain reaction (PCR)-based restriction analysis, the relationship between Fok I polymorphism and urolithiasis was evaluated. An unexcisable length of 265 bp was identified (allele CC) and two fragments (169 bp and 96 bp) identified as excisable lengths (allele TT).Results There was a statistically significant difference between the groups (chi-square test, P < 0.05) for the genotype of the VDR Fok I start codon polymorphism. The odds ratio (95% confidence interval) for the C allele in those at risk of stone disease was 1.672 (1.149-2.432).Conclusions These results suggest that the VDR Fok I start codon polymorphism may be a good candidate for a genetic marker in calcium oxalate stone disease.