Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
Department of Hematology, School of Medicine, Tarbiat Modares University, Tehran, Iran.
BMC Nephrol. 2020 Jul 10;21(1):263. doi: 10.1186/s12882-020-01919-1.
The currently available data with respect to the association between vitamin D receptor (VDR) gene polymorphism and risk to urolithiasis are inconclusive and inconsistent. Hence, an exhaustive meta-analysis can solve the discrepancies and provide a hint for upcoming investigations. Herein, a meta-analysis was carried out to attain a conclusive estimate of the association between VDR gene single nucleotide polymorphisms (SNPs) and urolithiasis risk.
The major databases, including ISI Web of science, Scopus, and PubMed/MEDLINE were searched systematically from until June 2020 to retrieve all relevant studies. Association between VDR gene polymorphisms, including FokI (rs2228570), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232), and urolithiasis risk was evaluated using pooled odds ratio (OR) and their corresponding 95% confidence interval (CI). Additionally, to seek for the potential source of heterogeneity, meta-regression analyses were exerted.
Literature search led to finally finding of 33 studies evaluating the VDR gene SNPs and urolithiasis risk. It was observed that none of the four SNPs were significantly associated with urolithiasis predisposition. However, subgroup analysis confirmed higher risk of urolithiasis in East-Asian and Caucasian population with ApaI and TaqI gene polymorphism. The analyses of sensitivity acknowledged the results stability.
Although this meta-analysis did not support the association of FokI, TaqI, BsmI, and ApaI in the overall polled analysis, it suggests that ApaI and TaqI SNPs is associated with increased risk of urolithiasis in East-Asian and Caucasians populations.
目前关于维生素 D 受体（VDR）基因多态性与尿石症风险之间的关联的数据尚无定论且不一致。因此，全面的荟萃分析可以解决这些差异，并为未来的研究提供线索。本研究通过荟萃分析得出了 VDR 基因单核苷酸多态性（SNP）与尿石症风险之间关联的结论性估计。
系统检索主要数据库，包括 ISI Web of Science、Scopus 和 PubMed/MEDLINE，以检索截至 2020 年 6 月的所有相关研究。使用汇总优势比（OR）及其相应的 95%置信区间（CI）评估 VDR 基因多态性（包括 FokI(rs2228570)、TaqI(rs731236)、BsmI(rs1544410)和 ApaI(rs7975232)）与尿石症风险之间的关系。此外，为寻找潜在的异质性来源，进行了荟萃回归分析。
文献检索最终确定了 33 项评估 VDR 基因 SNP 与尿石症风险的研究。结果显示，这四个 SNP 均与尿石症易感性无关。然而，亚组分析证实 ApaI 和 TaqI 基因多态性与东亚和高加索人群的尿石症风险增加有关。敏感性分析确认了结果的稳定性。
尽管本荟萃分析不支持 FokI、TaqI、BsmI 和 ApaI 在总体汇总分析中的相关性，但它表明 ApaI 和 TaqI SNP 与东亚和高加索人群的尿石症风险增加有关。
