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- W2896672118 abstract "Vitamin D plays an essential role in human health as it influences immune function, cell proliferation, differentiation and apoptosis. Vitamin D deficiency has been associated with numerous health outcomes, including bone disease, cancer, autoimmune disease, cardiovascular conditions and more. However, the causal role of vitamin D beyond its importance for bone health remains unclear and is under much debate. Twin and familial studies from past decades have demonstrated a nontrivial heritability of circulating vitamin D concentrations. Several large-scale genome-wide association studies (GWAS) have discovered associations of GC, NADSYN1/DHCR7, CYP2R1, CYP24A1, SEC23A, AMDHD1 with serum levels of vitamin D. A recent whole genome sequencing (WGS) study, combined with deep imputation of genome-wide genotyping, has identified a low-frequency synonymous coding variant at CYP2R1. Information on these genetic variants can be used as tools for downstream analysis such as Mendelian randomization. Here, we review the genetic determinants of circulating vitamin D levels by focusing on new findings from GWAS and WGS, as well as results from Mendelian randomization analyses conducted so far for vitamin D with various traits and diseases. The amount of variation in vitamin D explained by genetics is still small, and the putative causal relationship between vitamin D and other diseases remains to be demonstrated." @default.
- W2896672118 created "2018-10-26" @default.
- W2896672118 creator A5011048149 @default.
- W2896672118 creator A5039575473 @default.
- W2896672118 creator A5070896103 @default.
- W2896672118 date "2019-09-01" @default.
- W2896672118 modified "2023-10-02" @default.
- W2896672118 title "The genetics of vitamin D" @default.
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- W2896672118 doi "https://doi.org/10.1016/j.bone.2018.10.006" @default.
- W2896672118 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30316967" @default.
- W2896672118 hasPublicationYear "2019" @default.
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