Association of BsmI Polymorphism of the Vitamin D Receptor Gene with Nephrolithiasis
Dalia Mohammed Tawfeek Abd Allah;
Abstract
مستقبلات فيتامين د وتكون الحصوات الكلوية
clinical examination and laboratory investigations (urine analysis, calcium creatinine ratio in random urine sample, serum electrolytes and renal function tests). Imaging study including CT stone protocol was done for patients in addition to chemical stone analysis. For controls, pelviabdominal ultrasound was done to exclude renal stones. Finally, assay of BsmI polymorphism of the VDR gene by Polymerase Chain Reaction -Restriction Fragment Length Polymorphism (PCR-RFLP) was done for all subjects.
The study revealed that no statistically significant association was found between VDR BsmI polymorphisms (BB, Bb, bb genotypes) and the studied calcium nephrolithiasis patients. Comparative analysis of the VDR BsmI genotypes showed higher distribution of BB mutant homozygous genotype in calcium nephrolithiasis patients compared to control group (16.7% vs. 6.7%), however, it did not reach a statistical significance. In addition, although B allele was more frequent in patients’ group than in controls (43.3% vs. 30%), no statistical significance difference was found. On the other hand, the bb genotype (wild type) and b alleles were more frequent in controls compared to calcium nephrolithiasis patients (bb genotype
clinical examination and laboratory investigations (urine analysis, calcium creatinine ratio in random urine sample, serum electrolytes and renal function tests). Imaging study including CT stone protocol was done for patients in addition to chemical stone analysis. For controls, pelviabdominal ultrasound was done to exclude renal stones. Finally, assay of BsmI polymorphism of the VDR gene by Polymerase Chain Reaction -Restriction Fragment Length Polymorphism (PCR-RFLP) was done for all subjects.
The study revealed that no statistically significant association was found between VDR BsmI polymorphisms (BB, Bb, bb genotypes) and the studied calcium nephrolithiasis patients. Comparative analysis of the VDR BsmI genotypes showed higher distribution of BB mutant homozygous genotype in calcium nephrolithiasis patients compared to control group (16.7% vs. 6.7%), however, it did not reach a statistical significance. In addition, although B allele was more frequent in patients’ group than in controls (43.3% vs. 30%), no statistical significance difference was found. On the other hand, the bb genotype (wild type) and b alleles were more frequent in controls compared to calcium nephrolithiasis patients (bb genotype
Other data
| Title | Association of BsmI Polymorphism of the Vitamin D Receptor Gene with Nephrolithiasis | Other Titles | دراسة العلاقة بين المتغير الجيني BsmIلجين مستقبلات فيتامين د وتكون الحصوات الكلوية | Authors | Dalia Mohammed Tawfeek Abd Allah | Issue Date | 2017 |
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