Abstract
An association between vitamin D level and muscle-related traits has been frequently reported. Vitamin D level is dependent on various factors such as sunlight exposure and nutrition. But also on genetic factors. We, therefore, hypothesize that single nucleotide polymorphisms (SNPs) within the vitamin D pathway-related genes could contribute to muscle mass and function via an impact on vitamin D level. However, the integration of studies investigating these issues is still missing. Therefore, this review aimed to systematically identify and summarize the available evidence on the association between SNPs within vitamin D pathway-related genes and vitamin D status as well as various muscle traits in healthy adults. The review has been registered on PROSPERO and was conducted following PRISMA guidelines. In total, 77 studies investigating 497 SNPs in 13 different genes were included, with significant associations being reported for 59 different SNPs. Variations in GC, CYP2R1, VDR, and CYP24A1 genes were reported most frequently, whereby especially SNPs in the GC (rs2282679, rs4588, rs1155563, rs7041) and CYP2R1 genes (rs10741657, rs10766197, rs2060793) were confirmed to be associated with vitamin D level in more than 50% of the respective studies. Various muscle traits have been investigated only in relation to four different vitamin D receptor (VDR) polymorphisms (rs7975232, rs2228570, rs1544410, and rs731236). Interestingly, all of them showed only very low confirmation rates (6–17% of the studies). In conclusion, this systematic review presents one of the most comprehensive updates of the association of SNPs in vitamin D pathway-related genes with vitamin D status and muscle traits in healthy adults. It might be used for selecting candidate SNPs for further studies, but also for personalized strategies in identifying individuals at risk for vitamin D deficiency and eventually for determining a potential response to vitamin D supplementation.
Highlights
Variations in GC, cytochrome P450-2R1 (CYP2R1), vitamin D receptor (VDR), and CYP24A1 genes were reported most frequently, whereby especially single nucleotide polymorphisms (SNPs) in the GC and CYP2R1 genes were confirmed to be associated with vitamin D level in more than 50% of the respective studies
89 studies were included in the systematic review, with 77 of them reporting the association of genetic the systematic review, with 77D-related of them reporting the vitamin association of genetic polymorphisms of vitamin genes and
Synthesized or consumed with the diet, in the liver, vitamin D is converted in its circulating form 25-hydroxyvitamin D, a process mediated by enzyme 25-hydroxylase, which is encoded by the CYP2R1 gene
Summary
Vitamin D2 (ergocalciferol) built from the provitamin ergosterol and vitamin D3 (cholecalciferol) originating from 7-dehydrocholesterol (7-DHC) are converted into the circulating 25-hydroxyvitamin D (including 25(OH)D2 and
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