Vitamin D receptor (BsmI) gene polymorphism and allele frequency among chronic kidney disease patients in south Indian population.

The vitamin D receptor (VDR) axis plays an important role in multiple physiological renal functions. BsmI gene is one among the VDR gene plays a vital role in maintaining this VDR axis and any polymorphism in VDR gene will cause dysfunction of renal tissues. The main objective of the study is to study the link between BsmI VDR gene polymorphism and Chronic Kidney Disease (CKD). This was a case-control study, which includes 100 cases and 100 controls. BsmI gene analysis was done by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). Among 100 CKD study participants, BB (wild-type) genotype of BsmI gene was present in 7 patients (7%), Bb (heterozygous) genotype was present in 23 patients (23%) and bb (mutant) genotype was present in 70 patients (70%). And among 100 controls, 92 subjects were found to have BB genotype and 8 subjects were found to have Bb genotype and none of subjects were found to have bb genotypes. CKD patients with Bb and bb genotypes were found to have significantly elevated serum urea, creatinine and decreased Glomerular Filtration Rate (GFR) when compared to the BB genotype of BsmI gene. 'b' allele of BsmI gene, Bb and bb genotypes of BsmI gene plays a greater role in Guanine/Adenine single nucleotide polymorphism of BsmI gene in CKD.