0973-7510 Journal of Pure and Applied Microbiology 2581-690X DR. M.N. Khan 10.22207/JPAM.15.1.15 Association of Single Nucleotide Polymorphisms in the VDR and CYP27B1 Genes with Risk of Developing Vitamin D3 Deficiency Selahvarzi Hormoz Kamdideh Milad vahabi Mehrnoosh Dezhgir Ali Houshmand Massoud Sadeghi Soha Department of Biology, Tehran North branch, Islamic Azad University, Tehran, Iran. Research Center, Knowledge University, Erbil, Kurdistan Region, Iraq. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran. Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy. Department of Genetics, Research institute of Royesh Gene, Karaj, Iran. 09 02 2021 15 1 201 211 Copyright © 2021 The Author(s) 2021 This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International License which permits unrestricted use, sharing, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.https://creativecommons.org/licenses/by/4.0/

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.

 Keywords VDR CYP27B1 VITAMIN D3 RS 1544410 SNPs