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Updated: May 22, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Calcium-sensing receptor genetic variants and their association with CKD-MBD in South Indian Tamils

G Priyadarshini1, A Dhinesh1, Sreejith Parameswaran2

  • 1Department of Biochemistry, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.

Journal of Applied Genetics
|March 14, 2025
PubMed

Insights

Genetic variants in the Calcium-Sensing Receptor (CASR) are linked to chronic kidney disease (CKD) risk and mineral bone disease (MBD) in South Indian Tamils. Specific CASR genotypes predict forearm bone mineral density and serum calcium levels in CKD patients.

Area of Science:

  • Nephrology
  • Genetics
  • Endocrinology

Background:

  • Chronic kidney disease (CKD) involves progressive renal parenchyma degradation and reduced nephron function.
  • Disorders of bone mineral metabolism (MBD) are a major cause of morbidity and mortality in CKD patients.
  • The Calcium-Sensing Receptor (CASR) plays a crucial role in regulating blood calcium levels.

Purpose of the Study:

  • To investigate the association between CASR genetic variants and CKD.
  • To examine the relationship between CASR variants and MBD in CKD patients.
  • To identify specific CASR genotypes that predict MBD outcomes.

Main Methods:

  • Study included 180 CKD patients and 180 controls from South Indian Tamil population.
  • Bone mineral density (BMD) measured using dual-energy X-ray absorptiometry (DEXA).
  • Serum parathyroid hormone (PTH) levels measured by ELISA; genotyping performed by real-time quantitative PCR.

Main Results:

  • A significant difference in GAG haplotype distribution (rs7652589, rs1501899, rs1801725) was found between CKD patients and controls.
  • The GT genotype of rs1801725 was associated with lower forearm BMD and decreased serum calcium levels (TT genotype).
  • GT genotype of rs1801725 and AG/GG genotypes of rs7652589 independently predicted forearm BMD.

Conclusions:

  • The GAG haplotype of CASR single nucleotide polymorphisms (SNPs) is associated with CKD risk in South Indian Tamils.
  • Specific CASR genotypes (rs1801725 GT, rs7652589 AG/GG) are independent predictors of MBD in CKD patients.
Keywords:
Calcium-sensing receptorChronic kidney diseasers1501899rs1801725rs7652589

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