Associations between vitamin D status, VDR gene polymorphisms and echocardiographic markers in Polish patients with cardiovascular disease
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Updated: Jun 28, 2025

Author Spotlight: Assessing the Cardiovascular Profile of Patients with Metabolic Syndrome
Published on: September 27, 2024
Mohamed Abouzid1,2, Paweł Burchardt3,4, Leonid Kagan5
1Department of Physical Pharmacy & Pharmacokinetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Insights
This study explored vitamin D metabolites and VDR gene variations in cardiovascular disease patients. Certain VDR gene types were linked to lower aortic valve pressure gradients and hypertension predictors.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Nutritional Science
Background:
- Cardiovascular disease (CVD) is a leading cause of mortality worldwide.
- Vitamin D and its receptor (VDR) gene polymorphisms are implicated in various physiological processes, including cardiovascular health.
- Understanding the interplay between vitamin D metabolism, VDR genetics, and CVD markers is crucial for potential therapeutic strategies.
Purpose of the Study:
- To investigate the associations between vitamin D metabolites and VDR gene polymorphisms (ApaI, TaqI, BsmI, FokI).
- To correlate these genetic and metabolic factors with echocardiographic markers in patients with cardiovascular disease.
- To identify potential predictors of hypertension within this patient cohort.
Main Methods:
- Echocardiographic assessment using tissue Doppler techniques in 42 CVD patients.
- Genotyping of VDR gene polymorphisms (ApaI, TaqI, BsmI, FokI) via PCR-restriction fragment length polymorphism analysis.
- Quantification of vitamin D metabolites using a validated ultra-high-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) method.
Main Results:
- Patients with the ApaI-GT genotype showed a lower aortic valve pressure gradient compared to ApaI-TT carriers.
- Body Mass Index (BMI), ApaI-GT, TaqI-TC genotypes, aortic arch diameter, and maximal pressure gradient were significant univariate predictors of hypertension.
- These findings suggest a relationship between specific VDR genotypes and cardiovascular parameters.
Conclusions:
- A potential association exists between VDR gene polymorphisms and cardiovascular function in patients with CVD.
- Specific VDR genotypes may influence hemodynamic parameters like aortic valve pressure gradients.
- Further research is warranted to elucidate the precise mechanisms linking VDR genetics, vitamin D status, and cardiovascular outcomes.
Abstract:
Aim: This work was designed to investigate the associations between vitamin D metabolites, VDR gene polymorphisms and echocardiographic markers in a population of patients with cardiovascular disease. Methods: Echocardiographic markers for 42 patients were determined with tissue Doppler techniques. PCR-restriction fragment length polymorphism analysis identified genetic variants ApaI, TaqI, BsmI and FokI. A validated UHPLC-MS/MS method determined vitamin D metabolites. Results: Patients with the ApaI-GT genotype exhibited a lower pressure gradient across the aortic valve than ApaI-TT carriers. BMI, ApaI-GT, TaqI-TC, aortic arch diameter and maximal pressure gradient were significant univariate predictors of hypertension. Conclusion: A potential link exists between VDR gene polymorphisms and cardiovascular function.
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