title: A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis.
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.
authors.affiliation: Department of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Yii-Her
authors.initials: YH
authors.lastname: Chou
authors.forename: Peng Yeong
authors.initials: PY
authors.lastname: Woon
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chen
authors.forename: Yu-Wen
authors.initials: YW
authors.lastname: Hsu
authors.forename: Jer-Ming
authors.initials: JM
authors.lastname: Chang
authors.forename: Daw-Yang
authors.initials: DY
authors.lastname: Hwang
authors.forename: Yi-Ching
authors.initials: YC
authors.lastname: Chiu
authors.forename: Ho-Chang
authors.initials: HC
authors.lastname: Kuo
authors.forename: Wei-Pin
authors.initials: WP
authors.lastname: Chang
authors.forename: Ming-Feng
authors.initials: MF
authors.lastname: Hou
authors.forename: Mu-En
authors.initials: ME
authors.lastname: Liu
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
authors.forename: Wei-Chiao
authors.initials: WC
authors.lastname: Chang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002129:Calcium Oxalate / Q000378:metabolism; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D053040:Nephrolithiasis / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics*
chemical_list: D044169:Receptors, Calcium-Sensing; D002129:Calcium Oxalate