Identification of single nucleotide polymorphisms in vitamin D deficient Pakistani population

Abstract

Background: Vitamin D plays an important role in absorption of calcium and the maintenance of its levels. Deficiency of vitamin D is wide spread in South Asian countries like Pakistan. There are many causes of this deficiency, including the genetics. The present study was designed with the aim to find the single nucleotide polymorphism (SNP) located in the GC and vitamin D receptor genes associated with vitamin D deficiency (VDD)/insufficiency in the local population of Pakistan. Methods: A total of four hundred subjects with age from 0 to 60 years were inducted in the present study. After estimation of vitamin D levels, two groups (vitamin D sufficient and insufficient) were formed. DNA extraction and PCR were done to compare the SNP in the two groups. Two SNPs in GC and vitamin D receptor genes were studied through TETRA-ARMS PCR. The allelic and genotypic frequencies were calculated and Chi-square was applied to find risk allele association in two groups. Results: Any association was lacking between vitamin D deficiency and rs3847987/rs2282679 SNPs in this part of Pakistani population. The major allele frequency in case of rs2282679 was found equal in vitamin D deficient subjects and healthy individuals. The rs3847987 showed the major allele frequency in both vitamin D deficient subjects and controls. Increased exposure to sunlight, fortification of food and supplements of vitamin D appear to be the most effective choices to combat the vitamin D deficiency (VDD). Conclusion: In this study group SNPs rs3847987 and rs2282679 were not related to VDD.