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Vitamin D receptor gene polymorphisms in patients with urolithiasis

Urological Research volume 34, pages 47–52 (2006)Cite this article

Abstract

Urolithiasis is a multifactorial disease, the onset and severity of which is influenced by both genetic and environmental factors. This study represents an investigation of the role of vitamin D receptor (VDR) gene polymorphisms (ApaI, BsmI, and TaqI) and combined genotypes in urolithiasis in a Turkish population. We studied 110 patients with urinary stones and 150 control subjects. The polymorphic regions were amplified using polymerase chain reaction, followed by digestion with restriction enzymes BsmI, ApaI, and TaqI, and analyzed electrophoretically. Genotype and allele frequencies were calculated, and the association with urolithiasis, family history, and recurrence of stone was investigated. Our data provide no evidence for an association between urolithiasis and VDR ApaI, BsmI, and TaqI genotypes. We also analyzed the effects of VDR ApaI, BsmI, and TaqI genotypes in combination; the “GTT” VDR haplotype, constructed from three adjacent restriction fragment length polymorphisms was overrepresented among the urolithiasis patients. However, no significant differences between heterozygous carriers (OR 1.302; 95% CI 0.527–3.215) and homozygous carriers (OR 3.39; 95% CI 0.719–15.985) were observed in our study population. A significant association was found only between the ApaI polymorphism and family history (P=0.017; χ 2=5.657). Our data indicate that the VDR ApaI, BsmI, and TaqI polymorphisms do not confer a significant risk for urolithiasis.

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Affiliations

  1. Department of Medical Biology and Genetics, School of Medicine, Ondokuzmayis University, Samsun, Turkey

    Sezgin Gunes, Nurten Kara & Hasan Bagci

  2. Department of Urology, School of Medicine, Ondokuzmayis University, Samsun, Turkey

    Cenk Yucel Bilen, Ramazan Asci & Ali Faik Yilmaz

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  1. Sezgin Gunes
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  2. Cenk Yucel Bilen
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  3. Nurten Kara
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  4. Ramazan Asci
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Correspondence to Sezgin Gunes.

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Gunes, S., Bilen, C.Y., Kara, N. et al. Vitamin D receptor gene polymorphisms in patients with urolithiasis. Urol Res 34, 47–52 (2006). https://doi.org/10.1007/s00240-005-0033-1

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Keywords

  • VDR gene
  • TaqI
  • BsmI
  • ApaI
  • Urolithiasis
  • Genotype