MTHFR C677T polymorphism and its relation to ischemic stroke in the Black Sea Turkish population.

The MTHFR C677T mutation has been shown to be associated with venous thrombosis. The role of this mutation in ischemic stroke is unclear. We investigated whether the MTHFR mutation is a risk factor for patients with ischemic stroke in the Black Sea Turkish population or not. We analyzed 30 patients (19 male, 11 female) [median age: 50 years (range: 28-78)] with ischemic stroke who had no known predisposition factors for stroke and 242 (182 male, 60 female) healthy controls [median age: 42 years (range: 18-65)]. Detection of the MTHFR C677T mutation was performed by using commercially available allele-specific PCR-ELISA kits. Prevalence of the MTHFR C677T genotype was 49.1% (CT, 45.8%; TT, 3.3%) in controls and 50% (CT, 43.3%; TT, 6.6%) in patients [OR: 1.03, 95% CI (0.45-2.35]). The prevalence of homozygous gene mutation for MTHFR was higher among patients with stroke than control subjects, but this difference was not statistically significant. The MTHFR gene mutation is not a risk factor for ischemic stroke formation in patients from the Black Sea region in Turkey.

Coexistence of prothrombic risk factors and its relation to left ventricular thrombus in acute myocardial infarction.

OBJECTIVE: Within the last few years a number of thrombophilic mutations have been identified. Pre-symptomatic testing for these established genetic risk factors identifies individuals predisposed to a disease and often allows to select suitable prophylactic interventions in time. We investigated whether or not the prothrombin G20210A allele, the factor V Leiden G1691A, and MTHFR C677T allele are risk factors for left ventricular thrombus (LV) in patients with myocardial infarction (AMI) or not. METHODS AND RESULTS: We analysed clinical, echocardiographic and biochemical data in 183 consecutive patients (aged 58 +/- 12 years; 34 women) with a first anterior acute myocardial infarction. Two-dimensional echocardiographic examination was performed on days 1, 3, 7, 15, and 30. LV thrombi were detected in 42 (23%) of the 183 patients with acute myocardial infarction. We have used multiplex assays based on PCR and DNA hybridization in microtitre plates for the simultaneous analysis of three mutations (FV Leiden G1691A, prothrombin G20210A, and MTHFR C677T). No significant differences in allele frequencies of FV Leiden G1691A (9.5% vs. 8.5%, p = 0.75), prothrombin G20210A (9.5% vs 7.1%, p = 0.74) and MTHFR C677T (47.6% vs. 50.3%, p = 0.74) were found in patients with LV thrombus when compared with those without LV thrombus. No significant differences in haemostatic factor levels were found in patients with LV thrombus when compared with those without LV thrombus. CONCLUSION: FV Leiden, prothrombin 20210 variant, and MTHFR mutation are no risk factors for left ventricular thrombus in patients with myocardial infarction.The presence of multiple mutations did not influence the development and outcome of LV thrombus in patients with myocardial infarction