Prevalence of the fibrinogen β‐chain, angiotensin‐converting enzyme and plasminogen activator inhibitor‐1 polymorphisms in Costa Rican young adults with thrombotic disease

Abstract

Thrombotic disease is a multifactorial condition that involves both classical and genetic risk factors. We studied the association between the classical risk factors of hypertension and smoking, and polymorphisms on the genes of the angiotensin-converting enzyme (ACE), the beta-chain of fibrinogen (FG), and the plasminogen activator inhibitor-1 (PAI-1) in patients with venous and arterial thrombosis. The present investigation is a retrospective case-control study. A total of 340 participants were analyzed, including 162 patients and 178 healthy controls. Hypertension and smoking showed a significant association with thrombotic disease (p < 0.05) but FG level was found significant risk factor only for the venous thrombosis (VT) group (p < 0.04). Significant differences between thrombotic groups were found for the studied polymorphisms of PAI-1 (p < 0.0014), but for both FG beta-chain gene polymorphisms, none of the molecular analyses showed a positive sample for any mutating allele (p > 0.05). For the ACE polymorphism, the I allele present a protective effect in the general thrombotic group. This is one of the first reports in a Latin-American population dealing with these molecular markers and thrombotic diseases.

Polimorfismos genéticos relacionados à hemostasia e a sua relação com abortos espontâneos recorrentes

“…As concentrações elevadas de PAI-1 são encontradas no infarto agudo do miocárdio, síndrome coronariana aguda, TVP e na gravidez normal (Huber, 2001;Hidalgo et al, 2010;Meltzer et al, 2010 (Kohler e Grant, 2000;Hoekstra et al, 2004;Solá et al, 2008).…”