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Vitamin D Receptor Gene Polymorphism and Vitamin D Status in Population of Patients with Cardiovascular Disease-A
Mohamed Abouzid1, Marlena Kruszyna2, Paweł Burchardt2,3
1Department of Physical Pharmacy and Pharmacokinetics, Poznan University of Medical Sciences, 6 Święcickiego Street, 60-781 Poznan, Poland.
Insights
Vitamin D receptor (VDR) gene variations are linked to cardiovascular diseases (CVD). Specific VDR genotypes, like ApaI TT and FokI TT, correlate with higher risks of hypertension and heart failure, while BsmI AA may offer protection.
Area of Science:
- Genetics and Molecular Biology
- Cardiology
- Endocrinology
Background:
- The relationship between vitamin D receptor (VDR) gene polymorphism and cardiovascular disease (CVD) risk is not fully understood.
- VDR plays a crucial role in calcium homeostasis and has potential implications in cardiovascular health.
Purpose of the Study:
- To investigate the association between VDR gene polymorphisms (ApaI, TaqI, BsmI, FokI) and plasma vitamin D metabolite levels.
- To assess the link between these VDR genotypes and the incidence of cardiovascular and metabolic disorders in patients.
Main Methods:
- Genotyping of VDR polymorphisms ApaI, TaqI, BsmI, and FokI using PCR-RFLP.
- Quantification of plasma vitamin D metabolites (25-hydroxyvitamin-D2, 25-hydroxyvitamin-D3, 3-epi-25-hydroxyvitamin D3) via UPLC-MS/MS.
- Analysis of genotype frequencies and clinical data in 58 cardiology patients.
Main Results:
- The BsmI AA genotype showed a lower incidence in patients compared to controls, suggesting a potential protective effect, though not statistically significant.
- The ApaI TT genotype was associated with a higher frequency of hypertension (p < 0.01).
- Increased risk of obesity was linked to VDR genotypes ApaI TT, TaqI TC, and BsmI GA. The FokI TT genotype was associated with higher incidences of heart failure and hypertension.
Conclusions:
- Specific VDR genotypes are associated with an increased risk of hypertension, obesity, and heart failure.
- The BsmI AA genotype may confer protection against CVD, warranting further investigation in larger cohorts.
- Further research is needed to elucidate the mechanisms linking VDR genotypes to vitamin D metabolite levels and cardiovascular outcomes.
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.
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