The impact of genetic variants related to vitamin D and autoimmunity: A systematic review

被引：4

作者：

Trefilio, Luisa Menezes ^{[1
,2
]}

Bottino, Leticia ^{[1
,3
]}

Cardoso, Rafaella de Carvalho ^{[1
,4
]}

Montes, Guilherme Carneiro ^{[1
,4
]}

Fontes-Dantas, Fabricia Lima ^{[1
,4
]}

机构：

[1] Univ Estado Rio De Janeiro, Dept Farmacol & Psicobiol, Inst Biol Roberto Alcantara Gomes, Rio De Janeiro, RJ, Brazil

[2] Univ Fed Estado Rio de Janeiro, Inst Biomed, Rio De Janeiro, RJ, Brazil

[3] Univ Fed Estado Rio de Janeiro, Escola Med, Rio De Janeiro, RJ, Brazil

[4] Univ Estado Rio De Janeiro, Programa Posgrad Fisiopatol Clin & Expt, Rio De Janeiro, RJ, Brazil

来源：

HELIYON | 2024年 / 10卷 / 07期

关键词：

Vitamin D; Autoimmune diseases; Genetic variants; Susceptibility; And outcomes; D-RECEPTOR GENE; D-BINDING-PROTEIN; INFLAMMATORY-BOWEL-DISEASE; ENVIRONMENTAL SUN EXPOSURE; SERUM 25-HYDROXYVITAMIN D; TYPE-1; DIABETES-MELLITUS; BONE-MINERAL DENSITY; MULTIPLE-SCLEROSIS; VDR GENE; GRAVES-DISEASE;

D O I：

10.1016/j.heliyon.2024.e27700

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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), 1 alpha-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.

引用

页数：39

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