Association of Single Nucleotide Polymorphisms in the VDR and CYP27B1 Genes with Risk of Developing Vitamin D3 Deficiency

Abstract

This study was carried out to investigate the relationship between common variants in two vitamin D pathway genes (VDR and CYP27B1) and vitamin D3 serum levels. In this study, serum vitamin D metabolite levels were measured in the blood samples of 200 patients with alopecia areata. Then, single nucleotide polymorphisms (SNPs) in VDR and CYP27B1 were analyzed using polymerase chain reaction (PCR)-sequencing. Sixty-three variations were observed in these genes (42 variations in CYP27B1 and 21 variations in VDR). A significant difference in Rs1544410 (odds ratio: 7, P < 0.0005) and rs4646536 (odds ratio: 4.043, P < 0.0005) variants was found between the patients and controls. The study showed the relationship between the two polymorphisms, Rs1544410 (odds ratio: 7, 95% CI, 1–8) and rs4646536 (odds ratio: 4.043, 95% CI, 3–14.038) on the genes VDR and CYP27B1, respectively, with increased risk of developing vitamin D3 insufficiency in the Iranian population. Therefore, SNPs in the VDR and CYP27B1 genes can be considered as prognostic biomarkers of the risk of developing vitamin D3 deficiency.