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Vitamin D receptor gene polymorphisms in patients with urolithiasis
Sezgin Gunes1, Cenk Yucel Bilen, Nurten Kara
1Department of Medical Biology and Genetics, School of Medicine, Ondokuzmayis University, Samsun, Turkey. sgunes@omu.edu.tr
Urological Research
|January 7, 2006
Summary
This study found no significant link between vitamin D receptor (VDR) gene variations (ApaI, BsmI, TaqI) and urolithiasis risk in the Turkish population. However, a VDR haplotype showed overrepresentation in patients, though not reaching statistical significance.
Area of Science:
- Genetics
- Urology
- Molecular Biology
Background:
- Urolithiasis is a complex condition influenced by genetic and environmental factors.
- The vitamin D receptor (VDR) gene plays a role in calcium metabolism, relevant to stone formation.
Purpose of the Study:
- To investigate the association between VDR gene polymorphisms (ApaI, BsmI, TaqI) and their combined genotypes with urolithiasis in a Turkish cohort.
- To explore the relationship between these VDR polymorphisms and family history or stone recurrence.
Main Methods:
- Genotyping of VDR ApaI, BsmI, and TaqI polymorphisms using PCR and restriction enzyme analysis.
- Analysis of genotype and allele frequencies in 110 urolithiasis patients and 150 controls.
- Statistical evaluation of associations with urolithiasis, family history, and recurrence.
Main Results:
- No significant association was found between individual VDR ApaI, BsmI, or TaqI genotypes and urolithiasis.
- The VDR "GTT" haplotype was overrepresented in patients, but without statistically significant differences between carriers.
- A significant association was observed between the VDR ApaI polymorphism and a positive family history of urolithiasis (P=0.017).
Conclusions:
- Individual VDR ApaI, BsmI, and TaqI polymorphisms do not appear to be significant risk factors for urolithiasis in this Turkish population.
- While a VDR haplotype showed potential association, further research is needed to confirm its role.
- The VDR ApaI polymorphism may be linked to a family history of urolithiasis.
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