Indian Journal of Public Health Research & Development

The VDR (vitamin D receptor) is one of the key genes that may be associated with the reduced effectiveness of vitamin D. This study was performed to describe the potential role of the VDR genetic variation in with the development of cardiac, arthritis, and urinary tract diseases in patients with vitamin-D deficiency in the Middle Euphrates region of Iraq using PCR-sequencing strategy. Genomic DNA was extracted from eighty of female blood specimens. Then, polymerase chain reaction (PCR) followed by direct dideoxy sequencing reactions were performed. Eight single nucleotide polymorphisms (SNPs) were observed in the VDR amplified fragment, which were distributed amongst the analyzed specimens. Within the observed SNPs, five previously known SNPs were detected, two of them had intronic variations, including rs11574113 and rs11574114, while other three SNPs had synonymous variations, including rs731236, rs765762631, and rs550308645. Whilst, three novel SNPs were identified in the present study, one of them was an intronic variant, g.64366C>T, while the other two variants had synonymous variations, g.64932G>A and g.65214C>T. The most frequent mutation in in intronic part was in urinary tract disease (G>C) (40%) p< 0.01 and cardiac disease (G>C) (25%) p< 0.05. additionally the most frequent mutation in exonic part was in cardiac disease (C>G) and (C>T) both (29%) p< 0.05 and urinary tract disease (C>G) and (C>T) both (23%) p< 0.05. another mutation was obtained in all the control and patients of all diseases (C>T) but it was not significant. Finally out of eight mutations three were novel and five were registered in NCBI website. In conclusion, the present pilot study has provided a practical guide to potentially associate VDR fragment with the progression of desired diseases in the Middle Euphrates region of Iraq.