Black skin color but not VDR gene represent a risk factor for low serum levels of vitamin D in self-declared black individuals

Retamoso, Vanessa; Feijóo, Lyana Berro; Rubio, Débora Alejandra Vasquez; Santos, Lauren; Barcelos, Ana Letícia Vargas; Piccoli, Jacqueline da Costa Escobar

doi:10.1016/j.clnesp.2023.03.016

Cited by 2 publications

(2 citation statements)

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“…The BsmI polymorphism was determined using real-time PCR assays with TaqM allelic discrimination (Applied Biosystems, Foster City, CA, USA) according to protocol described by Retamoso et al (2023).…”

Section: Gene Amplificationmentioning

confidence: 99%

“…This study will address BsmI (rs 1544410), which is located in intron 8, and the result of substituting an adenine-guanine (A-G) [ 10 ]. Researchers have associated BsmI with osteoarthritis [ 11 ], breast cancer [ 12 ], melanoma [ 13 ], and system lupus erythematosus [ 14 ], among others, although data on its association with serum vitamin D levels are still conflicting [ 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2023

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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 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. Objective: 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. Methods: 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 p < 0.05. Results: 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. Conclusion: BsmI SNP of the VDR gene can modulate the expression of the genes evaluated without interfering with serum levels.

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Section: Gene Amplificationmentioning

confidence: 99%