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Egyptian Journal of Medical Human Genetics

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The relation of thrombomodulin G33A and C1418T gene polymorphisms to the risk of acute myocardial infarction in Egyptians

Wael Alkhiary, Mohamed Abdalaal, Amr Mohamed El-Saddik

Abstract


Background: Acute myocardial infarction (AMI) is one of the major  causes of morbidity and mortality worldwide. There is an increased interest in the genetic risk factors in the pathogenesis of ischemic heart
disease. Thrombomodulin (TM), a natural anticoagulant, may play a  critical role in the pathogenesis of AMI.
Aim of the study: To assess whether Thrombomodulin (TM) G33A and C1418T gene polymorphisms are related to the risk of AMI in Egyptians or not.
Subjects and methods: 102 AMI patients were recruited vs 110 healthy controls. For every subject, measurement of plasma soluble Thrombomodulin level was done by enzyme-linked immunosorbent assay
(ELISA). Further, DNA samples were genotyped by PCR-RFLP method for the TM G33A polymorphism and by PCR-ASO for the TM C1418T polymorphism.
Results: Our results revealed that the C1418T gene polymorphism was significantly associated with increased risk of AMI (CT: OR = 2.34, 95% CI = 1.28–4.29, P = 0.006; TT: OR = 8.03, 95% CI = 0.97–66.47, P = 0.026; CT + TT: OR = 2.65, 95% CI = 1.47–4.78, P = 0.001; T allele: OR = 2.51, 95% CI = 1.51–4.18, P < 0.001). On the other side, the TM G33A polymorphism was not detectable in any of patients or controls. Further, plasma soluble TM concentrations were higher in AMI patients, compared to the control group (P < 0.001).
Conclusions: TM 1418 C > T gene polymorphism, but not TM 33-G > A, may be associated with an increased risk of AMI in the Egyptian population. These results may have clinical implication in the  management of AMI in the future.



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