维生素D受体基因多态性与中国汉族人群泌尿系结石易感性的相关性研究

目的：探讨中国汉族人群中维生素D受体(vitamin D receptor, VDR)基因ApaI(rs7975232)、BsmI(rs1544410)、TaqI(rs731236)、FokI(rs2228570)多态性与尿石症的关系。方法：尿石症患者212例和对照组250例纳入本研究。采用聚合酶链式反应限制性片段长度多态性(polymerase chain reaction restriction fragment length polymorphism, PCR-RFLP)方法分析了VDR基因的4个多态性位点。结果：所有多态性位点在病例组与对照组中均符合遗传平衡定律。两组中BsmI和FokI位点多态性与中国汉族人群尿石症易感性相关。携带BsmIb等位基因者，其尿钙排泄水平明显升高。结论：BsmI和FokI位点基因多态性与中国汉族人群尿石症的发生相关，BsmI的b等位基因与尿石症患者的高尿钙排泄有关。

Association of vitamin D receptor gene polymorphism with urolithiasis in the Chinese population*

Objective: To evaluate the relationship between vitamin D receptor(VDR) gene ApaI(rs7975232), BsmI(rs1544410), TaqI(rs731236) and FokI(rs2228570) polymorphism and urolithiasis in Chinese population. Methods: 212 patients with urolithiasis and 250 controls were enrolled in this study. To identify genetic variants responsible for urolithiasis, four polymorphisms of the VDR gene were analyzed using the polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP) method. Results: All polymorphisms were in line with Hardy-Weinberg equilibrium in the patients and controls. Allele and genotype frequency analysis of these gene polymorphisms revealed that BsmI(rs1544410) and FokI(rs2228570) gene were associated with the risk of urolithiasis in Chinese population. However, we did not find any statistically significant differences in the allele and genotype frequencies for the ApaI and TaqI polymorphism. Importantly, patients carrying genetic variants of BsmI(rs1544410) had higher urinary calcium excretion levels than those controls who carrying genetic variants of BsmI. Conclusion: BsmI(rs1544410) and FokI(rs2228570) gene polymorphisms were associated with risk of urolithiasis among Chinese population, the ballele of BsmI was associated with high urinary calcium excretion rate in patients with urolithiasis.