Identification and analysis of 35 genes associated with vitamin D deficiency: A systematic review to identify genetic variants.

摘要: Abstract Vitamin D deficiency is a public health concern associated with, but not limited to, skeletal anomalies, chronic diseases, immune conditions, and cancer, among others. Hypovitaminosis mainly with environmental lifestyle factors that affect sunlight exposure. However, genetic also influence 25-hydroxyvitamin (25[OH]D) serum concentration. Although there available information of genes clear biological relevance or markers identified by Genome-Wide Association Studies, an overall view screening tool to identify known causes altered levels 25(OH)D lacking. Moreover, are no studies including the total evidence abnormal concentration 25(OH)D. Therefore, we conducted de-novo systematic literature review propose set comprehensive all variants reported be vitamin D. Abstracts retrieved from PubMed search were organized gene curated one-by-one using PubTerm web tool. The classified according type compared few commonly screened related status. This strategy allowed identification 35 concentrations, 27 (75%) which commercially not, therefore, analyzed in clinical practice for counseling, nor they sufficiently studied research purposes. Functional analysis confirmed their role pathways diseases. Thus, list important source understand determinants levels. To further support our findings, provide map functional SNPs included ClinVar, minor allelic frequencies, SNP effect sizes, integrated overview genes. In conclusion, candidate most available, would prove importance patients should respond supplementation because alterations absorption, have little benefit downstream metabolism D, study non-responsiveness