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Single-Nucleotide Polymorphism (SNP) A986S (rs1801725) of the Calcium-Sensing Receptor in Children With Idiopathic

Madhura N S1, Shivalingaiah M2, Kowsalya R1

  • 1Biochemistry, Institute of Nephro Urology, Bengaluru, IND.

Cureus
|April 23, 2026
PubMed

Insights

Genetic variations in the calcium-sensing receptor (CaSR) gene are linked to idiopathic hypercalciuria (IH) in children. The CaSR A986S polymorphism significantly increases the risk of developing IH, aiding in early diagnosis.

Area of Science:

  • Pediatric Nephrology
  • Medical Genetics
  • Calcium Metabolism

Background:

  • Idiopathic hypercalciuria (IH) is a common pediatric condition linked to kidney stones and urinary issues.
  • Genetic factors, including calcium-sensing receptor (CaSR) gene variations, may influence calcium homeostasis.
  • The CaSR A986S polymorphism (rs1801725) role in pediatric IH requires further investigation.

Purpose of the Study:

  • To examine the association between the CaSR A986S (rs1801725) polymorphism and idiopathic hypercalciuria in children.
  • To evaluate the genetic contribution of CaSR variations to calcium dysregulation in pediatric populations.

Main Methods:

  • A case-control study involving 60 children with IH and 60 matched controls (aged 4-14 years).
  • Assessment of clinical characteristics, serum calcium, and 24-hour urinary calcium excretion.
  • Genotyping for the CaSR rs1801725 (A986S) polymorphism and statistical analysis of genotype/allele frequencies.

Main Results:

  • Children with IH exhibited significantly higher 24-hour urinary calcium excretion compared to controls.
  • The mutant TT genotype (15% vs 1.7%) and T allele (35% vs 5%) were significantly more frequent in IH patients.
  • The T allele conferred a substantially increased risk of IH (OR = 10.23; p = 0.0004).

Conclusions:

  • The CaSR A986S (rs1801725) polymorphism is strongly associated with idiopathic hypercalciuria in children.
  • The T allele, particularly TT and GT genotypes, significantly elevates the risk of IH, indicating a genetic predisposition.
  • CaSR genotyping may aid in early risk stratification and personalized management of pediatric IH.

Keywords:
a986s polymorphismcalcium-sensing receptorcasr geneidiopathic hypercalciuriapediatric nephrolithiasisrs1801725

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