Authors : Jaya Kumari S, Anitha Devanath, Ganapthy Bantwal, Shubha N Prakash, Suparna Mukherjee
DOI : 10.18231/j.ijcbr.2020.018
Volume : 7
Issue : 1
Year : 2020
Page No : 87-90
Introduction: Polymorphism in Vitamin D binding protein (DBP) has been implicated as one of the causes
for Vitamin D deficiency. However there is paucity of data regarding the effect of genetic polymorphism
in DBP in Vitamin D deficient patients in our population. This pilot study was undertaken to analyze
the common genetic polymorphism in vitamin DBP in these population and its effect on vitamin D
supplementation.
Materials and Methods: 80 vitamin D deficient subjects were selected by convenient sampling. Genetic
analysis for DBP (GC) gene polymorphism (rs7041 + rs4588) was carried out in all these individuals after
informed consent and correlated with the vitamin D levels post supplementation.
Results: Six combinations of genotype were obtained (rs7041 + rs4588): TT+CA, TG+CC, TT+CA,
TT+CC, TT+AA, GG+CC. A third of all individuals (33%) were found to have the TG+CA genotype,
followed by about 26 % of individuals having the GG+CC genotype. TT+CA group was found to have
13% individuals and a tenth of all individuals belonged to each of the groups with TG+CC and TT+AA
genotypes. Least proportion of individuals was found to have the TT+CA genotype (6%). There was no
significant difference in the vitamin D levels with individual polymorphism (p value <0> the combined genotype had an effect, with homozygotes for both such as TT-CC, TT-AA showing least
response and heterozygotes such TG-CA and CG-CC showing better response
Discussion and Conclusion: In this study, the individual SNP (rs7041 and rs4588) did not seem to
significantly influence the response to vitamin D supplementation. However the combined genotype seem
ed to influence the proportion of patients showing improvement after supplementation. The homozygotes
for both such as TT-CC, TT-AA showing least response and heterozygotes such TG-CA and CG-CC
showing better response.
Keywords: Vitamin D, SNP, rs7041, rs4588.