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01-12-2023 | Hyperparathyroidism | Research

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

Authors: Yash P. Patel, Sachchida Nand Pandey, Sandip B. Patel, Aditya Parikh, Shailesh Soni, Nitiraj Shete, Ratika Srivastava, Manan A. Raval, Arvind P. Ganpule, Samir G. Patel, Mahesh R. Desai

Published in: Urolithiasis | Issue 1/2023

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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Title: Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population
Authors: Yash P. Patel
Sachchida Nand Pandey
Sandip B. Patel
Aditya Parikh
Shailesh Soni
Nitiraj Shete
Ratika Srivastava
Manan A. Raval
Arvind P. Ganpule
Samir G. Patel
Mahesh R. Desai
Publication date: 01-12-2023
Publisher: Springer Berlin Heidelberg
Keywords: Hyperparathyroidism
Hypercalcemia
Published in: Urolithiasis / Issue 1/2023
Print ISSN: 2194-7228
Electronic ISSN: 2194-7236
DOI: https://doi.org/10.1007/s00240-022-01394-3

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Springer Medicine

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

Abstract

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Abstract

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