Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Effects of Single Nucleotide Polymorphism BsmI of the Vitamin D Receptor (VDR) Gene on VDR, SOD-2, and CYP24A1 Gene Expression in Subjects with Low Serum Vitamin D Levels

Version 1 : Received: 20 July 2023 / Approved: 21 July 2023 / Online: 21 July 2023 (13:21:47 CEST)

A peer-reviewed article of this Preprint also exists.

Retamoso, V.R.; Barbisan, F.; Moro, G.M.; Maurer, P.; Rubio, D.V.; dos Santos, L.F.V.; Feijóo, L.B.; Frizzo, M.N.; Mânica da Cruz, I.B.; Manfredini, V.; Barcelos, A.L.V.; Piccoli, J.C.E. VDR, SOD-2, and CYP24A1 Gene Expression in Different Genotypes of BsmI SNP of the Vitamin D Receptor Gene in Individuals with Hypovitaminosis. Nutrients 2023, 15, 3565. Retamoso, V.R.; Barbisan, F.; Moro, G.M.; Maurer, P.; Rubio, D.V.; dos Santos, L.F.V.; Feijóo, L.B.; Frizzo, M.N.; Mânica da Cruz, I.B.; Manfredini, V.; Barcelos, A.L.V.; Piccoli, J.C.E. VDR, SOD-2, and CYP24A1 Gene Expression in Different Genotypes of BsmI SNP of the Vitamin D Receptor Gene in Individuals with Hypovitaminosis. Nutrients 2023, 15, 3565.

Abstract

Background: Hypovitaminosis D is a public health problem due to its implications for various diseases. Vitamin D has numerous functions, such as modulating the metabolism of some cellular tissues, and is expressed through the VDR gene that may influence gene expression modulation, which plays an important role in vitamin D metabolism. Objective: To evaluate the effect of the genotypes of single nucleotide polymorphism (SNP) BsmI of the vitamin D receptor (VDR) gene on VDR, SOD2, and CYP24A1 gene expression in individuals with low serum vitamin D levels. Methods: This was a cross-sectional analytical study. Individuals were invited to participate and, after signing the informed consent form, answered a structured questionnaire with identification data. Blood was collected for biochemical analysis, and vitamin D was measured by chemiluminescence; BsmI polymorphism was determined using real-time polymerase chain reaction (PCR) assays with TaqMan allelic discrimination, and gene expression was conducted by qRT-PCR using QuantiFast SYBR® Green PCR Master Mix. Data were analyzed using the SPSS 20.0 software, and differences were considered significant at p<0.05. Results: 98 individuals with vitamin D ≤20 ng/dL were evaluated, and the SNP BsmI of the VDR gene showed CYP24A1 overexpression and low SOD2 expression. Conclusion: SNP Bsm I of the VDR gene can modulate the expression of the genes evaluated without interfering with serum levels.

Keywords

vitamin D; hypovitaminosis; Cytochorme P 450 (CYP); SOD2

Subject

Public Health and Healthcare, Other

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