Egyptian Journal of Medical Human Genetics (Jul 2017)
Contribution of coagulation factor VII R353Q polymorphism to the risk of thrombotic disorders development (venous and arterial): A case-control study
Abstract
Background: Elevated factor VII (FVII) level is a risk factor for thromboembolic disorders. It was reported that the FVII R353Q polymorphism is associated with variation in plasma FVII levels, where Q allele carriers were more associated with lower levels of FVII than R allele carriers. However, the association between coagulation FVII R353 Q polymorphisms and the risk of thrombosis is uncertain. Aim of the study: Is to investigate the contribution of factor VII R353Q gene polymorphism to the risk of thrombotic disorders development (venous and arterial) in a group of Egyptian patients. Subjects and methods: This study was conducted on 310 subjects: 110 acute myocardial infarction (AMI) patients, 108 deep venous thrombosis (DVT) patients and 92 healthy controls. FVII R353Q genotypes were assessed using restriction fragment length polymorphism analysis. Results: There were no statistically significant differences in the frequency of FVII R353Q polymorphism between each of the AMI and DVT patients and the control group (P = 0.9, 0.1). However the Q allele showed a significantly higher frequency in the AMI group (15.4%) vs. controls (8.7%) (OR: 1.92; 95% CI: 0.98–3.7). Bivariate analysis demonstrated no significant association between FVII R353Q genotypes and different studied risk factors, neither in arterial nor venous thrombosis. Conclusion: FVII R353Q polymorphism did not contribute to an increased risk of thrombosis (arterial and venous); also carrying the Q allele (of R353Q) did not confer protection against acute thrombotic events.
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