The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation
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. Ne...
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doaj-9e1bba034bed4b64834ff8ec322d3c542020-11-25T02:58:57ZengMDPI AGNutrients2072-66432020-08-01122608260810.3390/nu12092608The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D SupplementationSara Tomei0Parul Singh1Rebecca Mathew2Valentina Mattei3Mathieu Garand4Mariam Alwakeel5Elham Sharif6Souhaila Al Khodor7Research Department, Sidra Medicine, Doha 26999, QatarResearch Department, Sidra Medicine, Doha 26999, QatarResearch Department, Sidra Medicine, Doha 26999, QatarResearch Department, Sidra Medicine, Doha 26999, QatarResearch Department, Sidra Medicine, Doha 26999, QatarDepartment of Biomedical Sciences, College of Health Sciences, Qatar University, Doha 26999, QatarDepartment of Biomedical Sciences, College of Health Sciences, Qatar University, Doha 26999, QatarResearch Department, Sidra Medicine, Doha 26999, QatarBackground. 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.https://www.mdpi.com/2072-6643/12/9/2608vitamin Dpolymorphismssingle-nucleotide polymorphismSNP25-hydroxyvitamin D25(OH)D |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sara Tomei Parul Singh Rebecca Mathew Valentina Mattei Mathieu Garand Mariam Alwakeel Elham Sharif Souhaila Al Khodor |
spellingShingle |
Sara Tomei Parul Singh Rebecca Mathew Valentina Mattei Mathieu Garand Mariam Alwakeel Elham Sharif Souhaila Al Khodor The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation Nutrients vitamin D polymorphisms single-nucleotide polymorphism SNP 25-hydroxyvitamin D 25(OH)D |
author_facet |
Sara Tomei Parul Singh Rebecca Mathew Valentina Mattei Mathieu Garand Mariam Alwakeel Elham Sharif Souhaila Al Khodor |
author_sort |
Sara Tomei |
title |
The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation |
title_short |
The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation |
title_full |
The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation |
title_fullStr |
The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation |
title_full_unstemmed |
The Role of Polymorphisms in Vitamin D-Related Genes in Response to Vitamin D Supplementation |
title_sort |
role of polymorphisms in vitamin d-related genes in response to vitamin d supplementation |
publisher |
MDPI AG |
series |
Nutrients |
issn |
2072-6643 |
publishDate |
2020-08-01 |
description |
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. |
topic |
vitamin D polymorphisms single-nucleotide polymorphism SNP 25-hydroxyvitamin D 25(OH)D |
url |
https://www.mdpi.com/2072-6643/12/9/2608 |
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