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Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population

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Abstract

Calcium is the most abundant metabolite involved in the stone matrix. The CaSR gene controls calcium homeostasis, and genetic variation in the CaSR gene could lead to the development of renal stone disease. Therefore, the current study has been designed to assess the association of genetic variants of CaSR gene polymorphisms with renal stone disease. A single-centric prospective study has been carried out on a total of 300 participants (150 cases and 150 controls). Serum levels of calcium, creatinine, parathyroid hormone, and 24 h urine metabolites were measured. Two polymorphisms, rs1801725 and rs1042636, of the CaSR gene, have been genotyped for each participant. T test, binary logistic regression, and Chi-square analysis were used for statistical analysis. Renal stone patients had significantly higher levels of serum parathyroid hormone, creatinine, and 24-h urine metabolites in comparison to the controls. CaSR gene variants, rs1801725 (GG) and rs1042636 (AA), both have shown significant association with renal stone disease. In addition, individuals having specific genotypes along with metabolic abnormalities such as hypercalcemia and hyperparathyroidism are found to be at a higher significant risk of developing the renal stone disease. In the present study, the haplotype of the CaSR gene has shown an association with renal stone disease. Individuals with hyperparathyroidism and hypercalcemia and risk genotype have a higher susceptibility to developing renal stone disease.

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Data Availability

The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We want to thank the knowledge consortium of Gujarat (KCG), India, for providing scholarship and contingency. We are also thankful to Charotar University of Science and Technology (CHARUSAT) for facilitating us with Charusat Seed Research Grant (CHARUSATSEEDRESEARCHGRANT/RPCP/SAPA) and Muljibhai Patel Urological Hospital (MPUH) for providing financial assistance (Department of Urology Research Support Grant) to carry out research work.

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Authors and Affiliations

  1. Department of Clinical Pharmacy, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Yash P. Patel

  2. Department of Pathology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India

    Sachchida Nand Pandey & Shailesh Soni

  3. Department of Pharmacology, L.M. College of Pharmacy, Ahmedabad, Gujarat, 380009, India

    Sandip B. Patel

  4. Department of Urology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India

    Aditya Parikh, Arvind P. Ganpule & Mahesh R. Desai

  5. Muljibhai Patel Urological Hospital, Nadiad, Gujarat, 387001, India

    Nitiraj Shete

  6. Department of Biotechnology, School of Life Sciences, Babasaheb Bhimrao Ambedkar University (A Central University), Lucknow, UP, India

    Ratika Srivastava

  7. Department of Pharmaceutical Chemistry and Analysis, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Samir G. Patel

  8. Department of Pharmacognosy and Phytochemistry, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India

    Manan A. Raval

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Contributions

YP: conceptualization, data curation, investigation, resources, visualization, writing—original draft preparation. SNP: conceptualization, methodology, resources, software, supervision, validation, writing—review and editing. SBP: conceptualization, visualization, writing—review and editing. AP: investigation. SS: methodology. NS: formal analysis. RS: writing—review and editing. MAR: funding acquisition. AG: conceptualization, project administration, supervision, writing—review and editing. SGP: conceptualization, project administration, resources, supervision, visualization, writing—review and editing. MRD: funding acquisition, supervision.

Corresponding author

Correspondence to Samir G. Patel.

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The authors declare no competing interests.

Conflict of interest

There are no financial or non-financial interests that are directly or indirectly related to the work submitted for publication. The authors declare no conflict of interest.

Human studies

The protocol for this research project has been approved by the Muljibhai Patel Society for Research in Nephro-Urology at Muljibhai Patel Urological Hospital, Nadiad, Gujarat, India, on 29th July 2019, and the approval number is “EC/575/2019 & EC/697/2020”.

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Patel, Y.P., Pandey, S.N., Patel, S.B. et al. Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population. Urolithiasis 51, 25 (2023). https://doi.org/10.1007/s00240-022-01394-3

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