钙敏感受体基因（CASR）中的一个遗传多态性（rs17251221）与钙性肾结石的结石多发性有关。
A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis.
机构信息
Department of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
出版信息
PLoS One. 2011;6(9):e25227. doi: 10.1371/journal.pone.0025227. Epub 2011 Sep 22.
Abstract
Calcium nephrolithiasis is one of the most common causes of renal stones. While the prevalence of this disease has increased steadily over the last 3 decades, its pathogenesis is still unclear. Previous studies have indicated that a genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with the total serum calcium levels. In this study, we collected DNA samples from 480 Taiwanese subjects (189 calcium nephrolithiasis patients and 291 controls) for genotyping the CASR gene. Our results indicated no significant association between the CASR polymorphism (rs17251221) and the susceptibility of calcium nephrolithiasis. However, we found a significant association between rs17251221 and stone multiplicity. The risk of stone multiplicity was higher in patients with the GG+GA genotype than in those with the AA genotype (chi-square test: P = 0.008; odds ratio = 4.79; 95% confidence interval, 1.44-15.92; Yates' correction for chi-square test: P = 0.013). In conclusion, our results provide evidence supporting the genetic effects of CASR on the pathogenesis of calcium nephrolithiasis.
摘要
钙结石是肾结石最常见的原因之一。尽管在过去的 30 年中，这种疾病的患病率稳步上升，但它的发病机制仍不清楚。先前的研究表明，钙敏感受体基因 (CASR) 的一个遗传多态性 (rs17251221) 与总血清钙水平有关。在这项研究中，我们从 480 名台湾受试者（189 名钙结石患者和 291 名对照者）中采集 DNA 样本，用于 CASR 基因的基因分型。我们的结果表明，CASR 多态性（rs17251221）与钙结石易感性之间没有显著关联。然而，我们发现 rs17251221 与结石多发性之间存在显著关联。GG+GA 基因型患者的结石多发性风险高于 AA 基因型患者（卡方检验：P=0.008；比值比=4.79；95%置信区间，1.44-15.92；卡方检验的 Yates 校正：P=0.013）。总之，我们的结果提供了证据支持 CASR 对钙结石发病机制的遗传影响。
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