Aim: Evaluate thrombophilia causing genetic variants and ACE gene I/D variant impact on patients with ischemic stroke.
Introduction: Every year, 15 million people worldwide suffer a stroke that is the second leading cause of disability. Genetic variants in Leiden factor coding gene (F5) and in prothrombin gene (F2) cause inherited thrombophilia which is associated with increased risk of intravascular thrombosis, thromboembolism and cerebral stroke. Angiotensin-converting enzyme (ACE) coding gene I/D variant is discussed among numerous conditions including stroke.
Methods: In the study there were included 115 patients with mean age 70.3±11.0 years, with diagnosed ischemic stroke. Control group for F5 and F2 gene variations consisted of 124 individuals with mean age 55.6±14.6 years. And for ACE gene variation 248 individuals with mean age 56.8±11.4 years. DNA was extracted from peripheral blood using standard phenol-chloroform method. Genotyping of F5 gene variant G1691A and F2 gene variant G20210A was performed using PCR-RFLP. ACE gene I/D variant genotyping were performed using PCR. Statistical analysis was performed using Fisher's exact test and SPSS v22.0 software.
Results: F2 gene variant were more frequent in patient group. Frequency in patients were 0.017 and in control group 0 (p=0.038). F5 gene variant frequency in both patients and control group were 0.012 (p>0.05). Seven patients (5.6%) had one variant in one of coagulation factors encoding genes comparing to three in control group (2.4%) (p>0.05). Mean age for patients with identified variations in F2 or F5 was not significantly different comparing to other patients (p>0.05). ACE gene I/D genotypes and allele frequencies in stroke patients were not significantly different from controls – I allele frequencies were 0.452 in patients versus 0.470 in controls (p>0.05).
Conclusion: Prothrombin encoding gene variant G20210A could be risk factor for ischemic stroke. F5 and ACE gene I/D genotypes are not associated with ischemic stroke.