A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis

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

doi:10.1371/journal.pone.0025227

A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis

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

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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.

Original language	English
Article number	e25227
Journal	PLoS ONE
Volume	6
Issue number	9
DOIs	https://doi.org/10.1371/journal.pone.0025227
Publication status	Published - Sept 22 2011
Externally published	Yes

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Chou, Y.-H., Woon, P. Y., Chen, W.-C., Hsu, Y.-W., Chang, J.-M., Hwang, D.-Y., Chiu, Y.-C., Kuo, H.-C., Chang, W. P., Hou, M.-F., Liu, M.-E., Chang, J.-G., & Chang, W.-C. (2011). A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis. PLoS ONE, 6(9), Article e25227. https://doi.org/10.1371/journal.pone.0025227

Chou, Y-H, Woon, PY, Chen, W-C, Hsu, Y-W, Chang, J-M, Hwang, D-Y, Chiu, Y-C, Kuo, H-C, Chang, WP, Hou, M-F, Liu, M-E, Chang, J-G & Chang, W-C 2011, 'A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis', PLoS ONE, vol. 6, no. 9, e25227. https://doi.org/10.1371/journal.pone.0025227

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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.",

author = "Yii-Her Chou and Woon, {Peng Yeong} and Wei-Chiao Chen and Yu-Wen Hsu and Jer-Ming Chang and Daw-Yang Hwang and Yi-Ching Chiu and Ho-Chang Kuo and Chang, {Wei Pin} and Ming-Feng Hou and Mu-En Liu and Jan-Gowth Chang and Wei-Chiao Chang",

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AU - Hsu, Yu-Wen

AU - Chang, Jer-Ming

AU - Hwang, Daw-Yang

AU - Chiu, Yi-Ching

AU - Kuo, Ho-Chang

AU - Chang, Wei Pin

AU - Hou, Ming-Feng

AU - Liu, Mu-En

AU - Chang, Jan-Gowth

AU - Chang, Wei-Chiao

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N2 - 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.

AB - 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.

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A genetic polymorphism (rs17251221) in the calcium-sensing receptor gene (CASR) is associated with stone multiplicity in calcium nephrolithiasis

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