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Published on: April 1, 2019
Analysis of thrombophilic gene mutations in coronary artery ectasia
Zafer Yalım1, Serap Tutgun Onrat2, Sadık Volkan Emren3
1Departments of Cardiology, Afyonkarahisar Health Sciences University, Afyonkarahisar, Turkey.
Insights
Thrombophilic gene polymorphisms may play a role in coronary artery ectasia (CAE) development. This study found a higher prevalence of these genetic variations in CAE patients compared to controls.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Coronary artery ectasia (CAE) is characterized by abnormal dilatation of coronary arteries.
- The exact causes of CAE remain unclear, with atherosclerosis being a suspected factor.
- Thrombophilia, a tendency towards blood clot formation, is being investigated for its potential role in CAE.
Purpose of the Study:
- To investigate the association between specific gene polymorphisms related to thrombophilia and coronary artery ectasia.
- To determine if genetic variations influencing atherosclerosis risk are more common in CAE patients.
Main Methods:
- Genotyping was performed for several polymorphisms: factor V Leiden (G1691A), factor V H1299R, prothrombin G20210A, factor XIII V34L, beta-fibrinogen-455 G>A, PAI-1 4G/5G, and MTHFR C677T/A1298C.
- The study included 66 patients diagnosed with CAE and 32 healthy control individuals.
- Statistical analysis compared the frequency of these polymorphisms between the two groups.
Main Results:
- No significant differences in overall clinical features or thrombophilic gene polymorphism frequency were observed between CAE and control groups.
- However, a significantly higher prevalence of heterozygous and/or homozygous thrombophilic gene polymorphisms was found in patients with CAE (p=0.023).
Conclusions:
- Thrombophilic gene polymorphisms may be linked to the development and clinical manifestation of coronary artery ectasia.
- Further research is warranted to elucidate the precise mechanisms connecting these genetic factors to CAE.
Objective:
Coronary artery ectasia (CAE) is defined as localized or diffuse dilatation in the coronary artery lumen of at least 1.5 times the diameter of adjacent healthy reference segments. The etiology of CAE is still unknown, but the most likely cause is atherosclerosis. The aim of this study was to evaluate several gene polymorphisms that are thought to have an effect on the development of coronary atherosclerosis and have been shown to cause thrombophilia in CAE patients.
Methods:
The factor V Leiden (G1691A), factor V H1299R, prothrombin G20210A, factor XIII V34L, beta-fibrinogen-455 G>A, plasminogen activator inhibitor (PAI)-1 4G/5G, and methylenetetrahydrofolate reductase (MTHFR) C677T, and MTHFR A1298C polymorphisms were evaluated in 66 patients with CAE and 32 individuals with normal coronary arteries.
Results:
Comparison of the CAE and control groups revealed that the clinical features and the frequency of polymorphism in the thrombophilic genes were similar in both groups. However, when heterozygous and/or homozygous polymorphism was compared between groups, it was found that there was a significantly higher finding of thrombophilic gene polymorphism in the CAE group (p=0.023).
Conclusion:
Thrombophilic gene polymorphism may be associated with the formation and clinical presentation of CAE.
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