Lack of association between potential prothrombotic genetic risk factors and arterial and venous thrombosis

Abstract

ABSTRACT. Recent studies have shown an association between thrombosis and factor VII (FVII), tissue factor (TF), and angiotensinconverting enzyme (ACE). This suggests that individuals with FVII-402 G/A, FVII-401 G/T, TF+5466 A/G, and ACE-287 insertion/ deletion (I/D) polymorphisms present an increased risk of venous thrombosis, heart disease, and ischemic stroke compared with controls. In this study, we investigated the frequencies of these polymorphisms and their association with arterial and venous thrombosis. For the FVII-402 G/A polymorphism, there were 57.3% heterozygote (HT) genotypes and 8.3% homozygote (HM) genotypes in the patients, and 45.2% HT genotypes and 15.4% HM genotypes in the controls. For the FVII-401 G/T polymorphism, there were 37.5% HT genotypes and 3.1% HM genotypes in the patients, and 32.7% HT genotypes and 4.8% HM genotypes in the controls. The polymorphism TF+5466 A/G was not found in any of the samples analyzed. For the ACE-287 I/D polymorphism, there were 43 (40.6%) HT genotypes and 63 (59.4%) HM genotypes in the controls and 28 (45.2%) HT genotypes and 34 (54.8%) HM genotypes in the patients. No significant difference was observed by comparing patients and controls. In this study, no association was found between the presence of the evaluated polymorphisms and the occurrence of thrombotic events.

Polimorfismos asociados a disfunción endotelial y a un estado protrombótico en jóvenes mexicanos con infarto cerebral

“…Se ha descrito que las concentraciones plasmáticas disminuidas de FVII se asocian a trombosis e IC, mientras que otros estudios no han corroborado la presencia del polimorfismo G10976A en la incidencia de trombosis cerebral. 10 La enzima óxido nítrico sintasa endotelial (eNOS) cataliza la síntesis de óxido nítrico a partir de L-arginina; el óxido nítrico regula el tono vascular y previene la enfermedad aterotrombótica al inhibir la activación leucocitaria y plaquetaria, y la proliferación de células musculares lisas. 11 El cambio de guanina por tinina en la posición 894 en el exón 7 del gen que codifica la enzima eNOS, localizado en el cromosoma 7q35-36, se traduce en la sustitución de glutamina (Glu) por aspargina (Asp) en la posición 298, induciendo disfunción endotelial.…”

Factor VII-401 and -402 polymorphisms and acute myocardial infarction in southern Turkey population

“…Evangelista et al [19] investigated the effect of factor VII-401 and -402 polymorphisms in arterial and venous thrombotic events. Their patient group consisted of 104 participants and control group had 106 healthy subjects.…”

“…It was reported that -323rd nucleotide polymorphism in promoter has no biological activity [9]. Effects of the -401 G/T and -402 G/A polymorphisms over CAD and cerebrovascular diseasewere investigated in limited number of studies [17][18][19][20]. Kang et al [17] reported that activated factor VII (FVIIa) level and factor VII coagulant activity (FVIIc) were higher in the AMI patients.…”

L162v Polymorphism of Par-Α Gene, A603g Polymorphism of Tissue Factor Gene and Risk of Coronary Heart Disease in Russian Population

“…A603G gene polymorphism of tissue factor was associated with death and reinfarction in patients with myocardial infarction [12]. In addition, this polymorphism is associated with an increased risk of venous thrombosis and CHD [13].…”