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Journal of Diabetes & Metabolic Disorders
Published in: Journal of Diabetes & Metabolic Disorders 2/2020

Open Access 01-12-2020 | Obesity | Review article

Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review

Authors: Buthaina E. Alathari, Aji A. Sabta, Chinnappan A. Kalpana, Karani Santhanakrishnan Vimaleswaran

Published in: Journal of Diabetes & Metabolic Disorders | Issue 2/2020

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Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusions

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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Metadata
Title
Vitamin D pathway-related gene polymorphisms and their association with metabolic diseases: A literature review
Authors
Buthaina E. Alathari
Aji A. Sabta
Chinnappan A. Kalpana
Karani Santhanakrishnan Vimaleswaran
Publication date
01-12-2020
Publisher
Springer International Publishing
Published in
Journal of Diabetes & Metabolic Disorders / Issue 2/2020
Electronic ISSN: 2251-6581
DOI
https://doi.org/10.1007/s40200-020-00561-w

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