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

• Published in: PloS one Vol. 6; no. 9; p. e25227
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 22.09.2011; Public Library of Science (PLoS)
• Subjects: Acidification; Adult; Aged; Aged, 80 and over; Biology; Calcium; Calcium (blood); Calcium Oxalate - metabolism; Calcium-sensing receptors; Cancer; Case-Control Studies; Confidence intervals; Deoxyribonucleic acid; Disease; DNA; Female; Fourier transforms; Gene polymorphism; Genetic effects; Genetics; Genotype; Genotyping; Haplotypes; Homeostasis; Hospitals; Humans; Kidney stones; Kidneys; Male; Medical screening; Medicine; Middle Aged; Mutation; Nephrolithiasis; Nephrolithiasis - genetics; Nephrolithiasis - metabolism; Nephrology; Pathogenesis; Patients; Polymorphism; Polymorphism, Genetic - genetics; R&D; Receptors, Calcium-Sensing - genetics; Research & development; Statistical tests; Stone; Studies; Urine; Urology; Taiwan
• ISSN: 1932-6203; 1932-6203
• 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.