Abstract

The association between vitamin D receptor (VDR) polymorphism and the risk of cardiovascular diseases (CVD) remains unclear. This study aimed to assess a relationship between the VDR genotypes, plasma concentrations of vitamin D metabolites, and the occurrence of cardiovascular and metabolic disorders. Fifty-eight patients treated for various cardiological afflictions were included. Identification of VDR polymorphisms: ApaI, TaqI, BsmI, and FokI were carried out using the PCR-RFLP method. Plasma concentrations of 25-hydroxyvitamin-D2, 25-hydroxyvitamin-D3, and 3-epi-25-hydroxyvitamin D3 were assessed by the UPLC-MS/MS method. Lower incidence of BsmI AA genotype in the studied patients was observed compared with healthy controls, but the difference was insignificant. Among patients with the TT genotype, frequency of hypertension was higher than among carriers of other ApaI genotypes (p < 0.01). In addition, carriers of the TT ApaI, TC TaqI, and GA BsmI genotypes had an increased risk of obesity, while the presence of the FokI TT genotype was associated with a higher incidence of heart failure and hypertension. In conclusion, the BsmI AA genotype can be protective against CVD, but this observation needs study on a larger group of patients. Particular VDR genotypes were associated with 25-hydroxyvitamin-D levels, and the mechanism of this association should be further investigated.

Highlights

  • Cardiovascular diseases (CVDs) are the leading cause of death in the world and include heart and vessel disease related to a process of atherosclerosis [1]

  • CVDs refer to the following entities: coronary artery disease (CAD), cerebrovascular disease, peripheral artery disease (PAD), and aortic atherosclerosis [2]

  • The mechanism of vitD involves binding the active metabolite calcitriol to the vitamin D receptor (VDR), which belongs to the steroid hormone family of nuclear receptors accountable for the transcriptional regulation of several hormoneresponsive genes [7]

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Summary

Introduction

Cardiovascular diseases (CVDs) are the leading cause of death in the world and include heart and vessel disease related to a process of atherosclerosis [1]. The precise mechanism of how SNPs influence CVD remains poorly recognized [5]. The endocrine vitamin D (vitD) system involves a wide range of biological processes, including cell proliferation, control and differentiation, bone synthesis, and immune response modulation [6]. The mechanism of vitD involves binding the active metabolite calcitriol to the vitamin D receptor (VDR), which belongs to the steroid hormone family of nuclear receptors accountable for the transcriptional regulation of several hormoneresponsive genes [7]. The VDR is a major element in regulating the expression of varied proteins involved in regulating the cardiovascular system, such as renin [14], endothelial nitric oxide synthase [15], and NADPH oxidase (NOX) [16]

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