维生素D受体基因单核苷酸多态性在泌尿系结石中的研究进展

Recent advances on single nucleotide polymorphisms of vitamin D receptor gene in urolithiasis

泌尿系结石有着很高的患病率和复发率,其形成和发展涉及复杂的病因和病理生理机制。随着分子生物学技术的发展,人们对于遗传因素重要性的认识逐渐加深,基因单核苷酸多态性作为其中一个重要的切入点,引起了学者们的关注,维生素D受体(vitamin D receptor,VDR)是调节尿钙磷浓度的重要受体,其基因多态性的改变会影响受体功能进而会影响泌尿系结石的形成和发展。目前研究较多的与泌尿系结石有关的VDR基因单核苷酸多态性包括:Fok I、Bsm I、Apa I、Taq I位点,尽管不同研究的结果因种族、环境等因素存在差异,但大部分研究表明VDR基因多态性与尿路结石形成及发展有关,对于这些基因多态性的研究可能有助于泌尿系结石的防治,本文对近10年来有关维生素D受体基因单核苷酸多态性与泌尿系结石相关的研究做一综述。

Urolithiasis has a high rate of prevalence and recurrence.The pathogenesis involves numerous etiologic factors and complex pathophysiologic mechanisms.Single nucleotide polymorphisms(SNPs)have been a focus of interest for several years.Vitamin D receptor(VDR) regulates calcium and phosphorus metabolism,and its gene polymorphisms could affect urinary stone formation by influencing the expression and function of VDR.Several SNPs have been identified in the VDR gene including Fok I,Bsm I,Apa I,and Taq I polymorphisms.Though the results vary with race,environment and other factors,most studies have shown that VDR gene polymorphism is associated with urolithiasis.These genetic polymorphisms may contribute to the prevention and treatment of urolithiasis.This article reviews advances of single nucleotide polymorphisms of vitamin D receptor gene in urolithiasis.