Key result
The C allele and TC/CC genotypes of the platelet GPIbα (Kozak) gene polymorphism (rs2243093) were associated with a protective effect against coronary heart disease susceptibility (P<0.05).
Why the study?
Platelet glycoprotein Ib-IX-V plays a key role in mediating platelet activity and thrombosis, but the role of platelet GPIbα (Kozak) gene polymorphism as a risk factor for CHD needed evaluation.
Is the platelet GPIbα (Kozak) gene polymorphism associated with the risk of coronary heart disease?
Case-Control (n=150)
Is the platelet GPIbα (Kozak) gene polymorphism associated with the risk of coronary heart disease?
Background Coronary heart disease (CHD) is one of the leading causes of death worldwide for both men and women. It is caused by the disproportion between myocardial oxygen demand and its supply. Platelets play an important role in thrombosis and hemostasis by forming a plug at the exposed subendothelium preventing blood loss; if this process is uncontrolled it results in thrombotic events causing life-threatening disease such as myocardial infarction (MI) or ischemic stroke. Glycoprotein (GP) Ib-IX-V is a platelet membrane receptor complex containing four polypeptides, GPIbα, GPIbB, GPIX, and GPV, which plays a key role in mediating platelet activity and thrombosis. This study aimed to evaluate the role of platelet GPIbα (Kozak) gene polymorphism as a risk factor of CHD.Patients and methods This study was conducted on 120 newly diagnosed patients of CHD admitted to the Internal Medicine Hospital [46 patients with unstable angina (UA) and 74 patients with MI]. Thirty apparently healthy individuals served as a control group. The EDTA blood samples collected from patients and the control group were subjected to DNA extraction, followed by PCR amplification for the Kozak gene.Results This study showed that by taking rs2243093 TT as the reference genotype and T as the reference allele. TC, CC, TC+CC genotypes, and C allele showed a lower frequency in cases when compared with the control group, with protective effect against CHD susceptibility (P<0.05). On the other hand, no association was found in GP1bα genotypes and alleles between UA and MI subgroups (P>0.05).Conclusion Individuals carrying the C allele of (rs2243093) had protective effect against CHD including UA, MI. The rs2243093 had no association with the risk of MI in those having UA. Wild genotype (TT) was associated with higher creatine kinase-MB, while genotypes containing the risk allele (C) had lower creatine kinase-MB in CHD patients.
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El-Ghonemy et al. (2020) conducted a case-control in Coronary heart disease (n=150). Platelet GPIbα (Kozak) gene polymorphism (rs2243093) vs. Healthy controls was evaluated on Coronary heart disease susceptibility (p=<0.05). The C allele and TC/CC genotypes of the platelet GPIbα (Kozak) gene polymorphism (rs2243093) were associated with a protective effect against coronary heart disease susceptibility (P<0.05).
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