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Brief Report

The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation

1
Research Department, Sidra Medicine, Doha 26999, Qatar
2
Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha 26999, Qatar
*
Authors to whom correspondence should be addressed.
Equal Senior authors.
Nutrients 2020, 12(9), 2608; https://doi.org/10.3390/nu12092608
Received: 16 July 2020 / Revised: 30 July 2020 / Accepted: 1 August 2020 / Published: 27 August 2020
(This article belongs to the Section Micronutrients and Human Health)
Background. Vitamin D deficiency represents a major healthcare problem. Vitamin D status is influenced by genetic and environmental determinants. Several observational studies have evaluated the association of single-nucleotide polymorphisms (SNPs) in vitamin D-related genes and vitamin D levels. Nevertheless, little is known about the role of these SNPs in the response to vitamin D supplementation. We conducted an interventional study to define the association between SNPs in vitamin D-related genes and the response to vitamin D supplementation in 100 self-reported healthy women of Arab ancestry for the majority. Methods. A total of 100 healthy female subjects received a weekly oral dose of 50,000 IU vitamin D for 12 weeks. Serum vitamin D concentration and metabolic profiles were measured at baseline and 12 weeks post-vitamin D supplementation. The genotypes of 37 SNPs selected from previously reported vitamin D-related genes have been assessed by Fluidigm genotyping assay. Results. Rs731236 (VDR gene) and rs7116978 (CYP2R1 gene) showed a significant association with vitamin D status. The rs731236 GG genotype and the rs7116978 CC genotype were associated with a “vitamin D sufficiency” state. Rs731236 GG and rs7116978 CC genotypes showed a higher response to vitamin D supplementation. Transcription factor binding site prediction analysis showed altered binding sites for transcription factors according to the different rs7116978 alleles. Interestingly, the 37 SNPs previously established to play a role in vitamin D-related pathways explained very little of the response to vitamin D supplementation in our cohort, suggesting the existence of alternative loci whose number and effect size need to be investigated in future studies. Conclusion. In this paper, we present novel data on vitamin D-related SNPs and response to vitamin D supplementation demonstrating the feasibility of applying functional genomic approaches in interventional studies to assess individual-level responses to vitamin D supplementation. View Full-Text
Keywords: vitamin D; polymorphisms; single-nucleotide polymorphism; SNP; 25-hydroxyvitamin D; 25(OH)D; vitamin D deficiency; blood vitamin D; polymorphisms; single-nucleotide polymorphism; SNP; 25-hydroxyvitamin D; 25(OH)D; vitamin D deficiency; blood
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MDPI and ACS Style

Tomei, S.; Singh, P.; Mathew, R.; Mattei, V.; Garand, M.; Alwakeel, M.; Sharif, E.; Al Khodor, S. The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation. Nutrients 2020, 12, 2608. https://doi.org/10.3390/nu12092608

AMA Style

Tomei S, Singh P, Mathew R, Mattei V, Garand M, Alwakeel M, Sharif E, Al Khodor S. The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation. Nutrients. 2020; 12(9):2608. https://doi.org/10.3390/nu12092608

Chicago/Turabian Style

Tomei, Sara, Parul Singh, Rebecca Mathew, Valentina Mattei, Mathieu Garand, Mariam Alwakeel, Elham Sharif, and Souhaila Al Khodor. 2020. "The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation" Nutrients 12, no. 9: 2608. https://doi.org/10.3390/nu12092608

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