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Association of vitamin D receptor gene polymorphism and calcium urolithiasis in the Chinese Han population

Shuai Wang1, Xiao Wang, Jian Wu

  • 1Department of Urology, School of Medicine, The First Affiliated Hospital, Zhejiang University, Qingchun Road 79, Hangzhou 310003, Zhejiang Province, China.

Urological Research
|November 26, 2011
PubMed

Insights

Vitamin D Receptor (VDR) gene variations influence calcium urolithiasis risk and recurrence. Specific VDR polymorphisms like Apa I are linked to increased stone formation and differing presentations in males and females.

Area of Science:

  • Genetics
  • Urology
  • Endocrinology

Background:

  • Calcium urolithiasis is a common condition with complex etiology.
  • The vitamin D receptor (VDR) plays a crucial role in calcium homeostasis.
  • Genetic variations in the VDR gene may influence susceptibility to urolithiasis.

Purpose of the Study:

  • To investigate the association between VDR gene polymorphisms and the clinical presentation of calcium urolithiasis.
  • To identify specific VDR single nucleotide polymorphisms (SNPs) linked to urolithiasis risk and recurrence.

Main Methods:

  • Case-control study involving 464 urolithiasis patients and 450 healthy controls.
  • Genotyping of five VDR SNPs (Fok I, Bsm I, Dde I, Apa I, Taq I) using polymerase chain reaction-based restriction analysis.
  • Haplotype analysis to assess combined effects of VDR polymorphisms.

Main Results:

  • Significant differences in VDR Apa I genotype frequencies were observed between patients and controls (P = 0.006).
  • The Apa I 'a' allele was associated with an increased risk of kidney stone recurrence (P = 0.028).
  • VDR Fok I, Dde I, and Apa I polymorphisms showed significant gender-specific differences in male and female patients (P < 0.05).
  • Haplotype analysis revealed a significant association between combined VDR polymorphisms and urolithiasis (global P = 0.0001).

Conclusions:

  • Genetic polymorphisms of the VDR are significantly associated with the clinical presentation of calcium urolithiasis.
  • VDR gene variations are important factors in calcium urolithiasis development and progression in the Han population of southern China.

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