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Updated: May 27, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
CYP8A1 gene polymorphisms and left main coronary artery disease
Eleni Bousoula1, Vana Kolovou, Ioannis Vasiliadis
1Cardiology Department, Onassis Cardiac Surgery Center, Athens, Greece.
The CYP8A1 gene's CC genotype is linked to an increased risk of left main coronary artery disease (LM-CAD). This genetic marker could aid in identifying individuals susceptible to LM-CAD, facilitating early screening and intervention strategies.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Genetic Epidemiology
Background:
- Left main (LM) disease is a rare but severe form of coronary artery disease (CAD).
- Early identification of individuals at high risk for LM-CAD is critical for timely intervention.
- The prostaglandin I(2) (prostacyclin, PGI(2)) gene pathway is a potential candidate for LM-CAD risk stratification.
Purpose of the Study:
- To identify specific gene polymorphisms associated with an elevated risk of developing LM-CAD.
- To investigate the role of the CYP8A1 gene in distinguishing individuals prone to LM-CAD.
Main Methods:
- DNA analysis of 254 participants, including 151 with LM-CAD and 103 healthy controls.
- Assessment of the frequency of the C1117A polymorphism within the CYP8A1 gene.
Main Results:
- Significant differences in genotype distribution were observed between LM-CAD patients and controls.
- The CC genotype of CYP8A1 was found to be more prevalent in the LM-CAD group (P < .001).
- Higher C allele frequency was noted in individuals with LM-CAD compared to the control group (P = .016).
Conclusions:
- The CC genotype of the CYP8A1 C1117A polymorphism is associated with an increased risk of LM-CAD.
- This finding suggests potential utility in screening high-risk populations for LM-CAD.
- Further research in larger cohorts is necessary to validate these genetic associations.
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