Investigation of the association of common polymorphism in two genes VDR and CYP27B1 with vitamin D3 serum level in an Iranian population with Alopecia Areata

Investigation of the association of common polymorphism in two genes VDR and CYP27B1 with vitamin D3 serum level in an Iranian population with Alopecia Areata
Milad Kamdideh,¹ Hormoz Selahvarzi,² Mehrnoosh vahabi,³ Ali Dezhgir,⁴ Massoud Houshmand ,⁵ Soha Sadeghi,^6,*
1. Department of biology, Tehran north branch, Islamic Azad University, Tehran, Iran
2. Department of biology, Tehran north branch, Islamic Azad University, Tehran, Iran
3. Department of biology, Tehran north branch, Islamic Azad University, Tehran, Iran
4. Department of biology, Tehran north branch, Islamic Azad University, Tehran, Iran
5. Head of the Genetic Diagnostic Lab National Institute for Genetic Engineering and Biotechnology
6. Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy,
Introduction: Importance of Vitamin D to body health has been known. These days, there are many authentic shreds of evidence related to the significance of vitamin D deficiency (values below 10 ng/mL) in various physiological disorders, especially immunological dysfunctions such as Alopecia areata. Vitamin D2 (ergocalciferol) and vitamin D3 (cholecalciferol) are two forms of vitamin D (calciferol). The accepted indicator of vitamin D3 sufficiency in humans is serum 25(OH)D3 level (defined as 30 ng/mL 100 ng/mL). This study is aimed to investigate the relationship between common variants in 2 vitamin D pathway gene (VDR and CYP27B1) and vitamin D3 serum level in patients with Alopecia Areata.
Methods: In this investigation, serum vitamin D3 metabolite levels were measured in 200 samples with Alopecia areata disease by Eliza method. Then, SNPs in VDR and CYP27B1 by the polymerase chain reaction (PCR)-sequencing method were analyzed.
Results: 42 variations in CYP27B1 and 21 variations in VDR were observed. A significant difference of Rs1544410 (odd ratio:7, p-value: 0.0005), and rs4646536 (odd ratio: 4.043 p-value: 0.0005) variants was found between the suffered and the controls.
Conclusion: The research revealed the significant association between the two polymorphisms, Rs1544410 (odd ratio:7, 95% CI, 1-8) and rs4646536 (odd ratio: 4.043, 95% CI, 3 -14.038) on VDR and CYP27B1 genes, respectively, with increased vitamin D3 insufficiency risk in the Iranian patients' population with Alopecia areata. Therefore, SNPs in the VDR and CYP27B1 genes can be considered a prognostic biomarker of Vitamin D3 deficiency risk.
Keywords: CYP27B1, VDR, Rs1544410, rs4646536