A Study of Molecular Genetic Changes and Common Environmental Risk Factors Associated with Pulmonary Thromboembolism

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Mohammad Reza Ghaffary , Shamsi Ghaffari


Aims: Gene variations in different genes that are associated with homeostasis and thrombosis have a significant effect on the incidence of idiopathic venous thromboembolism in the future. Thromboembolism is a complex disease in which genes are an important component of the risk. The present research investigates the gene variations in pulmonary thromboembolism with a healthy group.

Method: During a cross-sectional descriptive study, we evaluated a sample of 53 patients with a pulmonary thromboembolism and 32 healthy individuals. We performed DNA analysis for variations of different genes involved in pulmonary thromboembolism. Finally, we assessed environmental factors in patients through their history.

Results: We compared 53 patients with a mean age of 41.13±2.7 years including 29 men and 24 women with 32 healthy individuals as control group with a mean age of 39.6±8.4 years including 17 men and 15 women. There was no statistically significant difference between the two groups based on age and gender of patients. In genetic variations in prothrombin (G20210A), there was a statistically significant difference between the patient and healthy groups (p = 0.01). The prothrombin gene mutation (G20210A) had significant predictability with relative risk (CI 0.1-0.9). Younger patients with gene mutations had a sensitivity of 0.65 for pulmonary thromboembolism.

Conclusions: The results showed that mutation of prothrombin gene increases the risk of pulmonary thromboembolism. According to this research, the Factor V Leiden mutation has no effect on pulmonary thromboembolism, contrary to other reports.

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