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The impact of genetic variants related to vitamin D and autoimmunity: A systematic review
Luisa Menezes Trefilio1,2, Letícia Bottino1,3, Rafaella de Carvalho Cardoso1,4
1Universidade Estadual do Rio de Janeiro, Instituto de Biologia Roberto Alcântara Gomes, Departamento de Farmacologia e Psicobiologia, Rio de Janeiro RJ, Brazil.
Abstract:
Over the past few years, there has been a notable increment in scientific literature aimed at unraveling the genetic foundations of vitamin D signaling and its implications for susceptibility to autoimmunity, however, most of them address isolated diseases. Here, we conducted a systematic review of genetic variants related to vitamin D and autoimmune diseases and we discussed the current landscape of susceptibility and outcomes. Of 65 studies analyzed, most variants cited are in vitamin D binding protein (VDBP; rs2282679 GC gene), 25-hydroxylase (rs10751657 CYP2R1), 1α-hydroxylase (rs10877012, CYP27B1) and the nuclear hormone receptor superfamily [FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) in VDR gene]. Therefore, our findings confirmed the associations of several genetic variants of vitamin D signaling with a broad spectrum of autoimmune diseases/traits. In addition, given the low number of papers found with functional analysis, further studies to elucidate the real effect that the variants exert on Vitamin D signaling are recommended.
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