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The role of vitamin D receptor gene polymorphisms in Turkish infants with urolithiasis

Nilufer Goknar1, Faruk Öktem2, Emel Torun3

  • 1a Department of Pediatric Nephrology, Medical Faculty , Bezmialem Vakif University , Istanbul , Turkey ;

Renal Failure
|February 25, 2016
PubMed

Insights

Vitamin D receptor (VDR) gene polymorphisms, specifically BsmI and TaqI, are linked to infantile urolithiasis in a Turkish population. These VDR genotypes may be candidate genes contributing to kidney stone formation in infants.

Area of Science:

  • Genetics
  • Pediatric Nephrology
  • Molecular Biology

Background:

  • Polymorphisms in the vitamin D receptor (VDR) gene are associated with urinary calculi in pediatric and adult populations.
  • Limited research exists on the role of VDR gene polymorphisms in infantile urolithiasis.
  • This study focuses on a Turkish population to investigate this association in infants.

Purpose of the Study:

  • To investigate the role of VDR gene polymorphisms (BsmI and TaqI) in infantile urolithiasis.
  • To compare demographic and metabolic risk factors between infants with urolithiasis and a control group.
  • To identify potential genetic markers for infantile kidney stone disease.

Main Methods:

  • A case-control study involving 104 infants with urolithiasis and 96 healthy infants.
  • Demographic and metabolic risk factors were evaluated.
  • Polymerase Chain Reaction (PCR)-based restriction fragment length polymorphism (RFLP) analysis was used to genotype VDR gene polymorphisms (BsmI and TaqI).

Main Results:

  • Statistically significant differences in VDR gene polymorphisms (BsmI and TaqI) were observed between the study and control groups (p=0.001 and p=0.043, respectively).
  • The BsmI genotype prevalence differed significantly between hypercalciuric and normocalciuric stone formers (p=0.007).
  • The B allele of BsmI and A allele of ApaI were more common in hypercalciuric stone formers.

Conclusions:

  • VDR gene polymorphisms, specifically BsmI and TaqI genotypes, are associated with infantile urolithiasis in the studied Turkish population.
  • These VDR genotypes may serve as candidate genes contributing to the development of kidney stones in infants.
  • Further research is warranted to elucidate the precise mechanisms linking VDR polymorphisms to infantile urolithiasis.

Keywords:
Gene polymorphismhypercalciuriainfanturolithiasisvitamin D receptor

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