scholarly journals Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review

Nutrients ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 3109
Author(s):  
Ermira Krasniqi ◽  
Arben Boshnjaku ◽  
Karl-Heinz Wagner ◽  
Barbara Wessner

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.

2011 ◽  
Vol 16 (9) ◽  
pp. 1215-1227 ◽  
Author(s):  
Consuelo Buttigliero ◽  
Chiara Monagheddu ◽  
Paola Petroni ◽  
Andrea Saini ◽  
Luigi Dogliotti ◽  
...  

2020 ◽  
Vol 52 ◽  
pp. 102491
Author(s):  
Xiaojing Zhong ◽  
Ying Xiong ◽  
Dexian Wei ◽  
Shuhong Wang ◽  
Zhihui Xiao ◽  
...  

Nutrients ◽  
2016 ◽  
Vol 8 (12) ◽  
pp. 789 ◽  
Author(s):  
Min Kim ◽  
Soo-Nyung Kim ◽  
Yang Lee ◽  
Yong Choe ◽  
Kyu Ahn

Nutrients ◽  
2020 ◽  
Vol 12 (9) ◽  
pp. 2608
Author(s):  
Sara Tomei ◽  
Parul Singh ◽  
Rebecca Mathew ◽  
Valentina Mattei ◽  
Mathieu Garand ◽  
...  

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.


PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0239407
Author(s):  
Daniela Caccamo ◽  
Attilio Cannata ◽  
Sergio Ricca ◽  
Liliana Maria Catalano ◽  
Antonella Federica Montalto ◽  
...  

Background Recent literature data have highlighted the important role of hypovitaminosis D in pregnancy complications and prenatal/perinatal health. Vitamin D action takes place through vitamin D receptor (VDR) activation. Two single nucleotide polymorphisms of VDR gene, FokI and BsmI, have been reported to affect VDR molecular signaling and be associated with several disorders, including hypertension. Methods We carried out a case-control study aimed to assess vitamin D serum levels together with the distribution of VDR FokI and BsmI in a population of 116 pregnant women with gestational hypertension (GH) and 69 normotensive pregnant women (CTR). Results Hypovitaminosis D was largely prevalent both in GH (81%) and CTR (69%) pregnant women. Vitamin D insufficiency (10–30 ng/ml) had a similar frequency in both cohorts (GH 60% vs CTR 58%), while vitamin D deficiency (<10 ng/ml) was more frequent in GH cohort than in CTR one (21% vs 11%). Regression analysis showed that GH was significantly (p = 0.031) linked to vitamin D status. Vitamin D deficiency was associated with a threefold-increased risk of developing GH, while a normal vitamin D status was protective against this pregnancy disorder. The VDR FF/bB haplotype was the most frequent in GH cohort, and resulted to increase by two folds the risk for GH. Notably, hypovitaminosis D was found in 92% of FF/bB GH pregnant women, 27% of which had deficient vitamin D levels compared with 11% of their normotensive counterparts. Conclusions Despite being preliminary, these findings suggest that genotyping of pregnant women for VDR polymorphisms may be useful for a tailored vitamin D supplementation strategy.


Nutrients ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 715 ◽  
Author(s):  
Svyatoslav Dvoretskiy ◽  
Jacqueline C. Lieblein-Boff ◽  
Satya Jonnalagadda ◽  
Philip J. Atherton ◽  
Bethan E. Phillips ◽  
...  

Background: The prevalence of vascular dysfunction increases with advancing age, as does the loss of muscle mass, strength and function. This systematic review explores the association between vascular dysfunction and skeletal muscle health in healthy adults. Methods: EMBASE and MEDLINE were searched for cross-sectional and randomized controlled studies between January 2009 and April 2019, with 33 out of 1246 studies included based on predefined criteria. Assessments of muscular health included muscle mass, strength and function. Macrovascular function assessment included arterial stiffness (pulse wave velocity or augmentation index), carotid intima-media thickness, and flow-mediated dilation. Microvascular health assessment included capillary density or microvascular flow (contrast enhanced ultrasound). Results: All 33 studies demonstrated a significant association between vascular function and skeletal muscle health. Significant negative associations were reported between vascular dysfunction and -muscle strength (10 studies); -mass (9 studies); and -function (5 studies). Nine studies reported positive correlations between muscle mass and microvascular health. Conclusions: Multiple studies have revealed an association between vascular status and skeletal muscle health in healthy adults. This review points to the importance of screening for muscle health in adults with vascular dysfunction with a view to initiating early nutrition and exercise interventions to ameliorate functional decline over time.


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