Related Experiment Video
Updated: Feb 19, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Impact of Genetic Defects on Coronary Atherosclerosis among Turkish Cypriots
Cenk Conkbayir1, Rezan Fahrioglu Yamaci2, Pinar Gencer2
1Department of Cardiology, Near East University, Nicosia, Cyprus.
Insights
Genetic variants show no direct link to coronary artery disease in Turkish Cypriots. Instead, lifestyle factors like diabetes and obesity appear more influential in this population. Further research into these secondary factors is recommended.
Area of Science:
- Cardiovascular Genetics
- Population Genetics
- Metabolic Disorders
Background:
- Coronary artery disease (CAD) susceptibility and genetic variants in Turkish Cypriots remain understudied.
- This research investigates genetic variants related to blood coagulation, glucose, and lipid metabolism in Turkish Cypriots with CAD.
- Results are compared with Turkish patients from Turkey to identify population-specific genetic associations.
Purpose of the Study:
- To investigate the distribution of specific gene variants in Turkish Cypriots with coronary artery disease.
- To explore associations between clinical parameters and genes involved in coagulation, glucose, and lipid metabolism.
- To compare genetic findings between Turkish Cypriots and Turkish patients from Turkey.
Main Methods:
- Study included 187 individuals with CAD (87 Turkish Cypriots, 100 Turks from Turkey).
- Coronary angiography confirmed CAD diagnosis.
- Genetic analysis focused on variants: FV Leiden, FVR2, PTH, FXIII, beta-Fibrinogen, PAI-1, HPA1, MTHFR (C677T, A1298C), ACE, Apo B, and Apo E.
Main Results:
- Age, male sex, diabetes, hyperlipidemia, and triglyceride/HDL ratio were significant risk factors in Turkish Cypriots.
- MTHFR [C677T] variant was marginally higher in Turkish Cypriots compared to Turks (P=0.06).
- No direct gene variant association with CAD was found; however, indirect links to risk factors were observed (e.g., MTHFR [A1298C] with low HDL, HPA-1 a/b with high total cholesterol).
Conclusions:
- Secondary factors like diabetes, hypertension, obesity, and sedentary lifestyle may play a more significant role in CAD among Turkish Cypriots than direct genetic factors.
- The study highlights the importance of considering lifestyle modifications for CAD prevention in this population.
- Further research is needed to elucidate the complex interplay between genetics and environmental factors in Turkish Cypriot CAD patients.
Background:
The distribution of gene variants in the Turkish Cypriot population with coronary artery disease has not been investigated. In this study, we sought to research different genetic variants in the susceptibility to coronary artery disease and to identify possible associations between various clinical parameters and the genes involved in blood coagulation as well as glucose and lipid metabolism among the Turkish Cypriots and compared the results with the respective Turkish patients from Turkey. Methods: A total of 187 individuals with coronary artery disease, namely 87 Turkish Cypriot individuals from Northern Cyprus, and 100 Turkish patients from Turkey, were investigated. The presence of CAD was documented with coronary angiography. The genetic susceptibility to coronary artery disease in the cohorts was studied using the variants FV Leiden (G1691A), Factor V R2 mutation (FVR2)(H1299R), PTH (G20210A), FXIII (V34L), β-Fibrinogen (-455 G>A), PAI-1 (4G/5G), HPA1 (a/b), MTHFR [C677T] and [A1298C], ACE (I/D), Apo B (R3500Q), and Apo E, in addition to the well-known risk factors associated with coronary artery disease.
Results:
Age, male sex, diabetes mellitus, hyperlipidemia, triglycerides, HDL, and triglyceride/HDL ratio were significantly associated with (P < .05); LDL (P = .05) and total cholesterol (P = .08) was marginally associated with coronary artery disease in the Turkish Cypriot population. The mutations in the MTHFR [C677T] gene variant were marginally higher in the Turkish Cypriot cohort when compared with the Turkish patients from Turkey (P = .06). No significant direct association of any of the gene variants with coronary artery disease in the Turkish Cypriot cohort could be defined. Several of the genetic variants were associated indirectly with the risk factors for coronary artery disease in Turkish Cypriots. MTHFR [A1298C] was found to be marginally associated with low HDL cholesterol (P = .08). MTHFR [C677] wild-type allele was significantly associated with a decreased rate of high LDL cholesterol (P < .05). The HPA-1 a/b variant was significantly associated with an increased rate of high total cholesterol levels (P < .05). Conclusion: Turkish Cypriot patients with coronary artery disease may be more affected by secondary factors, such as diabetes, hypertension, obesity, and sedentary life style when compared with genetic factors, which may be responsible for coronary artery disease.
Related Concept Videos
Coronary Artery Disease I: Introduction
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Coronary Artery Disease II: Pathophysiology

