A Genetic Polymorphism (rs17251221) in the Calcium-Sensing Receptor Gene (CASR) Is Associated with Stone Multiplicity in Calcium Nephrolithiasis

作者：Chou Yii Her^*; Woon Peng Yeong; Chen Wei Chiao; Hsu Yu Wen; Chang Jer Ming; Hwang Daw Yang; Chiu Yi Ching; Kuo Ho Chang; Chang Wei Pin; Hou Ming Feng; Liu Mu En; Chang Jan Gowth; Chang Wei Chiao

来源：PLos One, 2011, 6(9): e25227.

DOI：10.1371/journal.pone.0025227

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.

• 出版日期2011-9-22