VDR, SOD-2, and CYP24A1 Gene Expression in Different Genotypes of BsmI SNP of the Vitamin D Receptor Gene in Individuals with Hypovitaminosis

• Published in: Nutrients Vol. 15; no. 16; p. 3565
• Main Authors: Retamoso, Vanessa Rosa, Barbisan, Fernanda, Moro, Graziele Meira, Maurer, Patricia, Rubio, Débora Vasquez, Dos Santos, Lauren Flores Viera, Feijóo, Lyana Berro, Frizzo, Matias Nunes, Mânica da Cruz, Ivana Beatrice, Manfredini, Vanusa, Barcelos, Ana Letícia Vargas, Piccoli, Jacqueline da Costa Escobar
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.08.2023; MDPI
• Subjects: Adolescent; Adult; Alfacalcidol; Analysis; Avitaminosis - genetics; Calcifediol; Chi-square test; cytochrome P450 (CYP); Female; Gene amplification; Gene Expression; Genes; Genetic aspects; Genotype; Genotype & phenotype; Humans; hypovitaminosis; Male; Metabolism; Middle Aged; Physiological aspects; Polymorphism; Polymorphism, Single Nucleotide; Single nucleotide polymorphisms; SOD2; Steroid hormones; Vitamin D; Vitamin deficiency; Young Adult; Brazil; United States > US; SOD2; hypovitaminosis; vitamin D; cytochrome P450 (CYP)
• ISSN: 2072-6643; 2072-6643
• DOI: 10.3390/nu15163565

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 cellular tissues, and it is expressed through the vitamin D receptor (VDR) gene that may influence gene expression modulation, which plays an important role in vitamin D metabolism. To evaluate the effect of the genotypes of BsmI single nucleotide polymorphism (SNP) of the VDR gene on VDR, SOD2, and CYP24A1 gene expression in individuals with low serum vitamin D levels. This was a cross-sectional analytical study. After signing the informed consent form, individuals were invited to participate and 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 < 0.05. 98 individuals with vitamin D ≤ 20 ng/dL were evaluated, and the BsmI SNP of the VDR gene showed CYP24A1 overexpression and low SOD2 expression. BsmI SNP of the VDR gene can modulate the expression of the genes evaluated without interfering with serum levels.