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Association of CD36 gene polymorphisms with echo- and electrocardiographic parameters in patients with early onset
Monika Rac1, Grzegorz Kurzawski, Krzysztof Safranow
1Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland.
Insights
Genetic variations in CD36 are linked to cardiac issues. Certain CD36 gene mutations may contribute to left ventricular hypertrophy and impaired diastolic function in patients with early-onset coronary artery disease.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Human Genetics
Background:
- CD36 is crucial for long-chain fatty acid metabolism in cardiac and skeletal muscle.
- CD36 deficiency can impair myocardial fatty acid uptake.
- CD36 gene mutations may explain clinical variability in cardiac hypertrophy.
Purpose of the Study:
- To examine the association between CD36 sequence variations and cardiac function.
- To correlate CD36 gene changes with echocardiographic and electrocardiographic findings.
- To investigate CD36 variants in Caucasian patients with early-onset coronary artery disease.
Main Methods:
- Studied 100 Caucasian patients with early-onset coronary artery disease.
- Performed echocardiography and electrocardiography on all participants.
- Analyzed CD36 exons 4-6 and adjacent introns using denaturing high-performance liquid chromatography.
Main Results:
- IVS3-6TC (rs3173798) heterozygotes showed impaired left ventricle diastolic function.
- 573GA (rs5956) heterozygotes had a higher frequency of pseudonormal diastolic function.
- 591AT genotype correlated with increased posterior wall thickness and lower E/A ratio, suggesting left ventricular hypertrophy.
Conclusions:
- Specific CD36 variant alleles are associated with left ventricular hypertrophy.
- Detected CD36 gene variations may contribute to impaired diastolic function.
- CD36 mutations are potential contributors to cardiac dysfunction in coronary artery disease.
Introduction:
CD36 plays an important role in long-chain fatty acid homeostasis in skeletal muscle and the myocardium. CD36 deficiency may lead to reduced myocardial uptake of long-chain fatty acid. Therefore, different mutations of the CD36 gene may contribute to the clinical heterogeneity of cardiac hypertrophy.
Material And Methods:
The objective of the study was to investigate whether there is an association between the sequence changes in CD36 and echocardiographic and electrocardiographic parameters in Caucasian patients with early onset coronary artery disease. The study group comprised 100 patients. Electrocardiography and echocardiography were performed in all patients. Amplicons of exons 4 to 6 including fragments of introns were studied using the denaturing high-performance liquid chromatography technique.
Results:
IVS3-6TC (rs3173798) heterozygotes had impaired left ventricle diastolic function. 573GA heterozygotes (rs5956) had higher frequency of pseudonormal left ventricular diastolic function and it was confirmed by the increase in wave A' in the tissue Doppler. 591AT genotype was associated with borderline higher posterior wall end-diastolic thickness and lower E/A ratio. These results are consistent with electrocardiography parameters which could reflect left ventricular hypertrophy (higher RV5(6) and RV5(6) + SV1(2) parameters, depressed ST segments and tendency to longer Qtc II interval) in 591AT heterozygotes.
Conclusions:
Detected variant alleles of CD36 may be associated with features of left ventricular hypertrophy and impaired diastolic function.
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