A Genetic Polymorphism (rs17251221) in the Calcium-Sensing Receptor Gene (CASR) Is Associated with Stone Multiplicity in Calcium Nephrolithiasis
2011

Genetic Link Between CASR Gene and Kidney Stones

Sample size: 480 publication Evidence: moderate

Author Information

Author(s): 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

Primary Institution: Kaohsiung Medical University, Kaohsiung, Taiwan

Hypothesis

Is the CASR polymorphism (rs17251221) associated with calcium nephrolithiasis?

Conclusion

The study found a significant association between the CASR polymorphism and stone multiplicity in patients with calcium nephrolithiasis.

Supporting Evidence

  • The study included 480 subjects, with 189 patients and 291 controls.
  • The risk of stone multiplicity was higher in patients with the GG+GA genotype compared to those with the AA genotype.
  • Statistical analysis showed a significant association with a p-value of 0.008.

Takeaway

This study looked at a gene that might affect how many kidney stones people get. They found that certain gene variations can lead to more stones.

Methodology

A case-control study was conducted with DNA samples collected from 480 Taiwanese subjects, including 189 patients with calcium nephrolithiasis and 291 controls, to analyze the CASR gene polymorphism.

Limitations

The study had a limited sample size and did not include a control group for biochemical parameter analysis.

Participant Demographics

The study included 189 patients with calcium nephrolithiasis and 291 controls, with a mean age of 52.6 years; 66.1% of patients were male.

Statistical Information

P-Value

0.008

Confidence Interval

1.44–15.92

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pone.0025227

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