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Background: Urolithiasis is the most prevalent uronephrologic disorder caused by genetic, environmental factors, and metabolic defects. Objectives: The present study aimed to find a possible association between the vitamin D receptor (VDR) TaqI and the BsmI gene polymorphisms in relation to the serum levels of calcium (Ca) and vitamin D and the risk of urolithiasis. Methods: This case-control study was conducted on 68 children with urolithiasis and 67 healthy controls for the VDR gene polymorphisms using the polymerase chain reaction-restriction length polymorphism method. Results: The frequency of TaqI C allele was 36% in patients compared to 32.1% in controls (P = 0.49). A significantly higher frequency of the TaqI CC genotype was found among patients in the age group > 5 to 10 years. No significant difference was detected in the frequency of the BsmI A allele between patients (41.9%) and controls (42.5%, P = 0.91). However, a significantly lower frequency of the BsmI AA genotype was detected compared to those patients with Ca levels of > 10.8 mg/dL among patients with Ca levels of ≤ 10.8 mg/dL. Conclusions: Based on the results, a lack of an association between the VDR TaqI and BsmI polymorphisms with the risk of urolithiasis among children from Western Iran. However, a higher frequency of the TaqI CC genotype was found in the age group > 5 to 10 years. In addition, lower levels of Ca in patients were related to a significantly lower frequency of the BsmI AA genotype. The VDR gene BsmI polymorphism might affect the calcium level and the calcium metabolism in urolithiasis.
Seyedzadeh et al. (Wed,) studied this question.