Abstract
A high prevalence of vitamin D (calcidiol) serum deficiency has been described in several autoimmune diseases, including multiple sclerosis (MS), rheumatoid arthritis (AR), and systemic lupus erythematosus (SLE). Vitamin D is a potent immunonutrient that through its main metabolite calcitriol, regulates the immunomodulation of macrophages, dendritic cells, T and B lymphocytes, which express the vitamin D receptor (VDR), and they produce and respond to calcitriol. Genetic association studies have shown that up to 65% of vitamin D serum variance may be explained due to genetic background. The 90% of genetic variability takes place in the form of single nucleotide polymorphisms (SNPs), and SNPs in genes related to vitamin D metabolism have been linked to influence the calcidiol serum levels, such as in the vitamin D binding protein (VDBP; rs2282679 GC), 25-hydroxylase (rs10751657 CYP2R1), 1α-hydroxylase (rs10877012, CYP27B1) and the vitamin D receptor (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) VDR). Therefore, the aim of this comprehensive literature review was to discuss the current findings of functional SNPs in GC, CYP2R1, CYP27B1, and VDR associated to genetic risk, and the most common clinical features of MS, RA, and SLE.
Highlights
The etiology and progression of autoimmune diseases (AIDs) are multifactorial and complex [1]
Epidemiological studies have reported a high prevalence of vitamin D deficiency by the quantification of calcidiol; this deficiency has been associated with worse disease clinical activity and progression of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and multiple sclerosis (MS) diseases [4]
The potential roles of 35 genes that could modulate the vitamin D serum levels status have been reported in previous studies, highlighting that multiple single nucleotide polymorphisms (SNPs) in these genes are associated with lower calcidiol serum levels [11], such as the SNPs described in the vitamin D binding protein (VDBP; rs2282679 GC), 25-hydroxylase, 1α-hydroxylase and the vitamin D receptor (FokI, Bsml, Apal, and Taql VDR)
Summary
The etiology and progression of autoimmune diseases (AIDs) are multifactorial and complex [1]. Epidemiological studies have reported a high prevalence of vitamin D deficiency by the quantification of calcidiol; this deficiency has been associated with worse disease clinical activity and progression of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and multiple sclerosis (MS) diseases [4]. The potential roles of 35 genes that could modulate the vitamin D serum levels status have been reported in previous studies, highlighting that multiple single nucleotide polymorphisms (SNPs) in these genes are associated with lower calcidiol serum levels [11], such as the SNPs described in the vitamin D binding protein (VDBP; rs2282679 GC), 25-hydroxylase (rs10751657, CYP2R1), 1α-hydroxylase (rs10877012, CYP27B1) and the vitamin D receptor (FokI (rs2228570), Bsml (rs1544410), Apal (rs7975232), and Taql (rs731236) VDR). The aim of this comprehensive literature review was to discuss the current findings of the functional SNPs in GC, CYP2R1, CYP27B1, and VDR related to genetic risk and the most common clinical features of MS, RA, and SLE
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