Cakir Omer Onur, Yilmaz Akin, Demir Emre, Incekara Kutluhan, Kose Mustafa Omur, Ersoy Nagehan
Department of Urology, Istanbul Bagcilar Research and Training Hospital, 34800, Istanbul, Turkey.
Department of Medical Biology, Faculty of Medicine, Hitit University, 19030, Corum, Turkey.
Urol J. 2016 Mar 5;13(1):2509-18.
To analyze the relationship between nephrolithiasis and vitamin D receptor (VDR) gene BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), Tru9I (rs757343) and FokI (rs2228570) polymorphisms in a study group from the Turkish population.
Ninety-eight patients with calcium oxalate kidney stones and 70 controls were enrolled in this study. Five polymorphisms of the VDR gene were studied using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method.
For all polymorphisms, genotype frequencies were in line with Hardy-Weinberg equilibrium in the patients and controls. For the BsmI polymorphism, allele frequency distribution was found to differ significantly between the patients and the controls (P < .05). The "B" allele was found to increase the risk of nephrolithiasis by approximately 1.5-fold (odds ratio = 1.55, 95% confidence interval: 1.00-2.40; P = .048). However, we did not find any statistically significant differences in the allele and genotype frequencies for the ApaI, TaqI, Tru9I and FokI polymorphisms. Proportionally, the "BAt" and "baT" haplotypes were more common than other haplotypes in the cases and controls, respectively. For the haplotypes of the BsmI and TaqI polymorphisms, the "bT" haplotype frequency was found to be common in both the patients and the controls. However, we did not find statistically significant differences between the cases and the controls for either the BsmI / ApaI / TaqI or the BsmI/TaqI haplotypes. Moreover, no relationship was identified between family history and development of stone disease.
The "B" allele of the BsmI polymorphism of the VDR gene may increase stone development risk. Further investigations are needed to improve our knowledge regarding the genetic factors affecting urinary stone development.
分析土耳其人群研究组中肾结石与维生素D受体（VDR）基因BsmI（rs1544410）、ApaI（rs7975232）、TaqI（rs731236）、Tru9I（rs757343）和FokI（rs2228570）多态性之间的关系。
本研究纳入了98例草酸钙肾结石患者和70例对照。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法研究VDR基因的5种多态性。
对于所有多态性，患者和对照的基因型频率均符合Hardy-Weinberg平衡。对于BsmI多态性，发现患者和对照之间的等位基因频率分布存在显著差异（P < 0.05）。发现“B”等位基因使肾结石风险增加约1.5倍（优势比 = 1.55，95%置信区间：1.00 - 2.40；P = 0.048）。然而，我们未发现ApaI、TaqI、Tru9I和FokI多态性的等位基因和基因型频率存在任何统计学显著差异。按比例，“BAt”和“baT”单倍型在病例组和对照组中分别比其他单倍型更常见。对于BsmI和TaqI多态性的单倍型，发现“bT”单倍型频率在患者和对照中均常见。然而，对于BsmI / ApaI / TaqI或BsmI/TaqI单倍型，我们未发现病例组和对照组之间存在统计学显著差异。此外，未发现家族史与结石病发生之间存在关联。
VDR基因BsmI多态性的“B”等位基因可能增加结石发生风险。需要进一步研究以增进我们对影响尿路结石形成的遗传因素的认识。
