Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review
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 vitam...
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MDPI AG
2021-09-01
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| Series: | Nutrients |
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| Online Access: | https://www.mdpi.com/2072-6643/13/9/3109 |
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| author | Ermira Krasniqi Arben Boshnjaku Karl-Heinz Wagner Barbara Wessner |
| author_facet | Ermira Krasniqi Arben Boshnjaku Karl-Heinz Wagner Barbara Wessner |
| author_sort | Ermira Krasniqi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T07:20:14Z |
| format | Article |
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| language | English |
| last_indexed | 2024-03-10T07:20:14Z |
| publishDate | 2021-09-01 |
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| series | Nutrients |
| spelling | doaj.art-5ec0279f573c4a678ef586810d24646c2023-11-22T14:37:30ZengMDPI AGNutrients2072-66432021-09-01139310910.3390/nu13093109Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic ReviewErmira Krasniqi0Arben Boshnjaku1Karl-Heinz Wagner2Barbara Wessner3Research Platform Active Ageing, University of Vienna, Althanstraße 14, 1090 Vienna, AustriaCentre for Sport Science and University Sports, University of Vienna, Auf der Schmelz 6, 1150 Vienna, AustriaResearch Platform Active Ageing, University of Vienna, Althanstraße 14, 1090 Vienna, AustriaResearch Platform Active Ageing, University of Vienna, Althanstraße 14, 1090 Vienna, AustriaAn 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.https://www.mdpi.com/2072-6643/13/9/3109vitamin Dgenetic variationsSNPsGCCYP2R1VDR |
| spellingShingle | Ermira Krasniqi Arben Boshnjaku Karl-Heinz Wagner Barbara Wessner Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review Nutrients vitamin D genetic variations SNPs GC CYP2R1 VDR |
| title | Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review |
| title_full | Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review |
| title_fullStr | Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review |
| title_full_unstemmed | Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review |
| title_short | Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review |
| title_sort | association between polymorphisms in vitamin d pathway related genes vitamin d status muscle mass and function a systematic review |
| topic | vitamin D genetic variations SNPs GC CYP2R1 VDR |
| url | https://www.mdpi.com/2072-6643/13/9/3109 |
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