gene variants of vitamin d receptor (taqi t > c (rs731236) and bsmi g > a (rs1544410) in urolithiasis

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.