Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review.
Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review.
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DOI：
10.1007/s40200-020-00561-w
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发表时间：
2020-12
影响因子：
2.8
通讯作者：
Vimaleswaran KS
中科院分区：
文献类型：
--
作者：
Alathari BE;Sabta AA;Kalpana CA;Vimaleswaran KS
鉴于维生素D状态与代谢性疾病（如肥胖和2型糖尿病（T2 D））之间的关系尚不清楚，本文将重点关注维生素D相关单核苷酸多态性（SNP）与代谢性疾病之间的遗传关联，这些关联不太容易混淆。在PubMed上对截至2019年12月的相关文章进行了文献检索。纳入了研究维生素D相关SNP与肥胖和/或T2 D相关性的文章。两名评价者独立评价入选标准的合格性并提取数据。本次综述共纳入73篇文章。目前缺乏关于维生素D合成相关基因与肥胖和2型糖尿病相关性的研究;然而，有限的现有研究尽管不一致，但表明对2型糖尿病风险具有保护作用。虽然有几项研究调查了维生素D代谢相关的SNP，但专注于维生素D活化，catalysts和转运基因的研究有限。对CYP 27 B1、CYP 24 A1和GC基因的研究表明，欧洲人的肥胖和T2 D之间缺乏关联;然而，在南亚人中发现了与T2 D的显著关联。VDR基因的SNPs已被广泛研究，特别是主要集中在BsmI（rs 1544410）、TaqI（rs731236）、ApaI（rs7975232）和FokI（rs 2228570）SNPs上。尽管VDR SNP与代谢疾病之间的关联仍然不一致，但在特定种族群体中发现了一些显示对肥胖和T2 D潜在影响的积极关联。总的来说，这篇文献综述表明，种族特异性遗传协会参与。利用大型研究进行进一步研究是必要的，以更好地了解维生素D缺乏症和代谢疾病之间的这些种族特异性遗传关联。
Given that the relationship between vitamin D status and metabolic diseases such as obesity and type 2 diabetes (T2D) remains unclear, this review will focus on the genetic associations, which are less prone to confounding, between vitamin D-related single nucleotide polymorphisms (SNPs) and metabolic diseases. A literature search of relevant articles was performed on PubMed up to December 2019. Those articles that had examined the association of vitamin D-related SNPs with obesity and/or T2D were included. Two reviewers independently evaluated the eligibility for the inclusion criteria and extracted the data. In total, 73 articles were included in this review. There is a lack of research focusing on the association of vitamin D synthesis-related genes with obesity and T2D; however, the limited available research, although inconsistent, is suggestive of a protective effect on T2D risk. While there are several studies that investigated the vitamin D metabolism-related SNPs, the research focusing on vitamin D activation, catabolism and transport genes is limited. Studies on CYP27B1, CYP24A1 and GC genes demonstrated a lack of association with obesity and T2D in Europeans; however, significant associations with T2D were found in South Asians. VDR gene SNPs have been extensively researched; in particular, the focus has been mainly on BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and FokI (rs2228570) SNPs. Even though the association between VDR SNPs and metabolic diseases remain inconsistent, some positive associations showing potential effects on obesity and T2D in specific ethnic groups were identified. Overall, this literature review suggests that ethnic-specific genetic associations are involved. Further research utilizing large studies is necessary to better understand these ethnic-specific genetic associations between vitamin D deficiency and metabolic diseases.
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影响因子：
4.9
作者：
Dorjgochoo, T.;Shi, J.;Gao, Y-T;Long, J.;Delahanty, R.;Xiang, Y-B;Cai, Q.;Shu, X. O.
通讯作者：
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13.6
作者：
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通讯作者：
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影响因子：
6.1
作者：
Angel B;Lera L;Márquez C;Albala C
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