Association between vitamin D receptor gene polymorphism and nephrolithiasis.

Mineral and electrolyte metabolism Pub Date : 1999-05-01 DOI:10.1159/000057443

M Ruggiero, S Pacini, M Amato, S Aterini, V Chiarugi

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引用次数: 44

Abstract

Aims: To study the distribution of vitamin D receptor (VDR) gene alleles in hypercalciuric and nonhypercalciuric nephrolithiasis patients, hypothesizing that distinct biochemical parameters would be associated with different VDR genotypes.

Methods: 12 hypercalciuric, 15 normocalciuric nephrolithiasis patients, and 150 healthy subjects were recruited. The individual genetic pattern for VDR was evaluated by DNA extraction followed by polymerase chain reaction amplification of the VDR gene and digestion with the restriction enzyme BsmI.

Results: In the hypercalciuric group, Bb patients represented 50% (6/12); bb patients 33% (4/12), and BB cases were 16% (2/12). The VDR frequency distribution was not statistically different in hypercalciuric patients and controls (Bb 72%; bb 16%; BB 12%). In the nonhypercalciuric group, the prevalence of the bb genotype (7/15; 47%) was thrice the percentage of control subjects, while the percentage of BB patients was similar to that of the control group (2/15; 13%). Patients with the bb haplotype exhibited a higher daily urinary calcium excretion. Among hypercalciuric patients, after a calcium-restricted diet, bb patients showed a 39% reduction in daily urinary calcium excretion in comparison with a nonsignificant 13% reduction observed in BB subjects (p = 0.004).

Conclusions: The effects of VDR gene polymorphism on calcium metabolism contribute to the understanding of the pathogenesis of urinary calculi.

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维生素D受体基因多态性与肾结石的关系。

目的:研究维生素D受体(VDR)基因等位基因在高钙血症和非高钙血症肾结石患者中的分布，假设不同的生化参数与不同的VDR基因型相关。方法:选取高钙血症肾结石患者12例，正常钙血症肾结石患者15例，正常人150例。通过DNA提取、VDR基因聚合酶链反应扩增和限制性内切酶BsmI酶切来评估VDR的个体遗传模式。结果:高钙血症组Bb患者占50% (6/12);bb患者占33% (4/12)，bb患者占16%(2/12)。高钙血症患者和对照组的VDR频率分布无统计学差异(Bb 72%;bb 16%;BB 12%)。在非高钙血症组，bb基因型患病率(7/15;47%)是对照组的三倍，而BB患者的比例与对照组相似(2/15;13%)。bb单倍型患者每日尿钙排泄量较高。在高钙血症患者中，在限钙饮食后，bb患者的日尿钙排泄量减少39%，而bb患者的日尿钙排泄量减少13%，差异不显著(p = 0.004)。结论:VDR基因多态性对钙代谢的影响有助于了解尿路结石的发病机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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