The Factor V Leiden, Prothrombin Gene 20210GA, Methylenetetrahydrofolate Reductase 677CT and Platelet Glycoprotein IIIa 1565TC Mutations in Patients With Acute Ischemic Stroke and Atrial Fibrillation

Abstract

Background and Purpose-We wanted to investigate whether common prothrombotic mutations are more prevalent in patients with atrial fibrillation who have had a stroke than in healthy controls. We also wanted to assess whether early recurrent ischemic cerebrovascular events were more frequent among carriers of the factor V Leiden or the prothrombin gene mutations than among others. Methods-We used a case-control design with 367 patients with acute ischemic stroke and atrial fibrillation (cases) and 482 healthy blood donors (controls). All mutations were detected with conventional polymerase-chain reaction protocols. Results-The odds ratios for carriers of the factor V Leiden, prothrombin gene 20210GA, methylenetetrahydrofolate reductase 677CT, or platelet glycoprotein IIIa 1565TC (Pl A2 ) mutation were 0.91, (95% CI, 0.51 to 1.59), 2.25 (95% CI, 0.61 to 8.90), 0.83 (0.61 to 1.13), and 0.79 (0.57 to 1.10), respectively. Early recurrent ischemic stroke and total recurrent ischemic cerebrovascular events were slightly more frequent among carriers of the factor V Leiden mutation than among noncarriers: odds ratio 1.45 (95% CI, 0.41 to 5.1), and 1.59 (0.61 to 4.1), respectively. None of the patients with recurrent ischemic cerebrovascular events had the prothrombin gene mutation. Conclusion-These mutations are not important risk factors for thromboembolic stroke associated with atrial fibrillation.Carriers of the factor V Leiden mutation had a small, nonsignificantly higher risk of early recurrent ischemic cerebrovascular events. Key Words: atrial fibrillation Ⅲ ischemic stroke Ⅲ prothrombotic gene mutations P atients with atrial fibrillation have a 5-fold increased risk of thromboembolic stroke, probably attributable to activation of blood coagulation. We wanted to investigate whether common prothrombotic mutations are more prevalent in patients with atrial fibrillation who have had a thromboembolic stroke than in healthy controls. We also wanted to investigate whether, among patients with acute ischemic stroke and atrial fibrillation, early recurrent ischemic cerebrovascular events were more frequent in carriers of the most important of these gene mutations than in noncarriers.We chose to screen for the factor V Leiden, prothrombin gene 20210GA, methylenetetrahydrofolate reductase (MTHFR) 677CT, and platelet glycoprotein (GP) IIIa 1565TC mutations. The factor V Leiden and the prothrombin gene mutations are associated with increased risk of venous thromboembolism 1,2 and possibly myocardial infarction and stroke. 3 The MTHFR mutation increases plasma homocysteine, which has emerged as a potential risk factor for cardiovascular diseases, including stroke. 4 The mutant Pl A2 allele in the platelet GPIIIa gene is associated with increased risk of coronary thrombosis 5 and stroke in young patients. 6 Materials and MethodsCases were 367 patients with acute ischemic stroke and atrial fibrillation, of which 355 had been included in the Heparin in Acute Embolic Stroke Trial (HAEST). 7 Controls were unselected healthy subjects ...

Spontaneous Bilateral Vertebral Artery Dissection Secondary to PAI-1, MTHFR C677T and ACE Gene Mutations in a Young Man

“…One third occur in patients younger than 65 years [3]. Etiologies include atrial fibrillation with embolization [3], hypertension, diabetes mellitus, cervicocerebral stenosis [1,2,4], cerebral venous thrombosis [5] and a hypercoaguable state [4,5,6,7,8,9]. …”

Factor V Leiden Mutation in Reocclusion After Intra-Arterial Thrombolysis

“…4 This mutation is rare in black individuals of African descent. 5 In a relatively large study of prothrombotic gene mutations, Berge et al 6 found a small, nonsignificantly higher risk of early recurrent ischemic cerebrovascular events among patients who were carriers of the Factor V Leiden mutation. Botto et al 7 found increased prevalence of at least one prothrombotic genotype among patients with patent foramen ovale and first-ever ischemic cerebrovascular event before the age of 55 years.…”

Genetic Predictors for Cardioembolic Stroke in Patients With Atrial Fibrillation

“…Как уже упоминалось выше, в литературе представ-лены единичные исследования, как отечественные, так и зарубежные, посвященные изучению генетических предикторов возникновения ишемических инсультов у больных с ФП [2][3][4]13]. При этом данные о роли генов тромбофилий в патогенезе тромбоэмболических ослож-нений при ФП остаются противоречивыми.…”

“…В литературе представлен ряд исследований, направленных на выявление генетических предикто-ров развития кардиоэмболического инсульта при ФП [2][3][4][5][6][7]. Наиболее изученным генетическим предикто-ром тромбоза является лейденская мутация и поли-морфный маркер 677С<T гена метилентетрагидрофо-латредуктазы (MTHFR) [3].…”

“…Наиболее изученным генетическим предикто-ром тромбоза является лейденская мутация и поли-морфный маркер 677С<T гена метилентетрагидрофо-латредуктазы (MTHFR) [3]. В целом, представленные данные о генетических предикторах тромбоэмболи-ческих осложнений при ФП единичны и в значитель-ной мере противоречивы [7].…”