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



Ramya Badrachalam1, Vadivel Mani2*, Ravi Kumar1 & Asmathulla Shafiulla3



1Department of Biochemistry, Sri Manakula Vinayagar Medical College and Hospital, Puducherry - 605107, Tamil Nadu, India; 2Department of Biochemistry, Konaseema Institute of Medical sciences and research foundation, Amalapuram, East Godavari Dt-533201, Andhra Pradesh, India; 3Department of Biochemistry, All India Institute of Medical Sciences, Madurai- 625006, Tamilnadu, India; *Corresponding author



Vadivel Mani - Velvdm.vel5@gmail.com

Ramya Badrachalam - Email: drramya830@gmail.com

Ravi Kumar - Email: ravipkr472@gmail.com

Asmathulla S Email: asmathu0@gmail.com 


Article Type

Research Article



Received April 1, 2023; Revised April 30, 2023; Accepted April 30, 2023, Published April 30, 2023



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.



Chronic kidney disease, BsmI gene polymorphism, allele frequency, genotypic frequency, glomerular filtration rate, single nucleotide polymorphism.



Badrachalam et al. Bioinformation 19(4): 380-384 (2023)


Edited by

P Kangueane






Biomedical Informatics



This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.