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Impact of vitamin D receptor polymorphisms in selected metabolic disorders

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LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MCO.0000000000000945

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metabolic syndrome; obesity; type 2 diabetes; vitamin D receptor

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The purpose of this study was to review recent publications and examine the relationship between genetic variants in the vitamin D receptor (VDR) gene and type 2 diabetes, metabolic syndrome, overweight, and obesity. Recent studies have focused on genetic variants in both coding and noncoding regions of the VDR gene, which may affect VDR expression or functionality. However, the data collected in recent months still do not provide a clear answer regarding the direct impact of VDR genetic variants on these metabolic disorders.
Purpose of reviewVitamin D (vitD) can regulate metabolic pathways in adipose tissue and pancreatic beta cells by interacting with its vitamin D receptor (VDR). The aim of this study was to review original publications published in the last months and verify the relationship between genetic variants in the VDR gene and type 2 diabetes (T2D), metabolic syndrome (MetS), overweight, and obesity.Recent findingsThe recent studies concern genetic variants located in the coding and noncoding regions of the VDR gene. Some of the described genetic variants may affect VDR expression or posttranslational processing altered functionality or vitD binding capacity of VDR. Nevertheless, the data collected in recent months on the assessment of the relationship between VDR genetic variants and the risk of T2D, MetS, overweight, and obesity still do not give a clear answer to whether they have a direct impact on these metabolic disorders.Analysis of the potential association between VDR genetic variants and parameters such as glycemia, body mass index, body fat, and lipid levels improves the current understanding of the pathogenesis of T2D, MetS, overweight, and obesity. A thorough understanding of this relationship may provide important information for individuals with pathogenic variants and enable the implementation of appropriate prevention against the development of these disorders.

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