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Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations

Jones, Patrice; Lucock, Mark; Chaplin, George; Jablonski, Nina G.; Veysey, Martin; Scarlett, Christopher; Beckett, Emma

Authors

Patrice Jones

Mark Lucock

George Chaplin

Nina G. Jablonski

Martin Veysey

Christopher Scarlett

Emma Beckett



Abstract

Background
The frequency of vitamin D-associated gene variants appear to reflect changes in long-term ultraviolet B radiation (UVB) environment, indicating interactions exist between the primary determinant of vitamin D status, UVB exposure and genetic disposition. Such interactions could have health implications, where UVB could modulate the impact of vitamin D genetic variants identified as disease risk factors. However, the current understanding of how vitamin D variants differ between populations from disparate UVB environments is limited, with previous work examining a small pool of variants and restricted populations only.

Methods
Genotypic data for 46 variants within multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP27A1, CYP24A1, VDR, RXRα and RXRγ) was collated from 60 sample sets (2633 subjects) with European, East Asian and Sub-Saharan African origin via the NCBI 1000 Genomes Browser and ALFRED (Allele Frequency Database), with the aim to examine for patterns in the distribution of vitamin D-associated variants across these geographic areas.

Results
The frequency of all examined genetic variants differed between populations of European, East Asian and Sub-Saharan African ancestry. Changes in the distribution of variants in CYP2R1, CYP11A1, CYP24A1, RXRα and RXRγ genes between these populations are novel findings which have not been previously reported. The distribution of several variants reflected changes in the UVB environment of the population’s ancestry. However, multiple variants displayed population-specific patterns in frequency that appears not to relate to UVB changes.

Conclusions
The reported population differences in vitamin D-related variants provides insight into the extent by which activity of the vitamin D system can differ between cohorts due to genetic variance, with potential consequences for future dietary recommendations and disease outcomes.

Citation

Jones, P., Lucock, M., Chaplin, G., Jablonski, N. G., Veysey, M., Scarlett, C., & Beckett, E. (2020). Distribution of variants in multiple vitamin D-related loci (DHCR7/NADSYN1, GC, CYP2R1, CYP11A1, CYP24A1, VDR, RXRα and RXRγ) vary between European, East-Asian and Sub-Saharan African-ancestry populations. Genes and Nutrition, 15(1), Article 5. https://doi.org/10.1186/s12263-020-00663-3

Journal Article Type Article
Acceptance Date Feb 28, 2020
Online Publication Date Mar 13, 2020
Publication Date Mar 13, 2020
Deposit Date May 6, 2020
Publicly Available Date May 7, 2020
Journal Genes & Nutrition
Print ISSN 1555-8932
Electronic ISSN 1865-3499
Publisher BioMed Central
Peer Reviewed Peer Reviewed
Volume 15
Issue 1
Article Number 5
DOI https://doi.org/10.1186/s12263-020-00663-3
Keywords Vitamin D; Polymorphism; UVB; Skin pigmentation
Public URL https://hull-repository.worktribe.com/output/3503693
Publisher URL https://genesandnutrition.biomedcentral.com/articles/10.1186/s12263-020-00663-3
Additional Information Received: 17 September 2019; Accepted: 28 February 2020; First Online: 13 March 2020; : Not applicable.; : Not applicable.; : The authors declare that they have no competing interests.

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Copyright Statement
© The Author(s). 2020 Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visithttp://creativecommons.org/licenses/by/4.0/






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