The coagulation factor II G20210A mutation and myocardial infarction in the Maltese population

Abstract

The Coagulation Factor II prothrombin G20210A single nucleotide polymorphism (SNP) has an allelic frequency of 3% in the Maltese population (Bezzina- Wettinger, Balim, & Felice, 2000) and has been associated with a state of hypercoagulability, possibly through the increased generation of the active form thrombin which plays a central role in haemostasis and has also been implicated in inflammatory processes. The SNP has been associated with an increased risk of venous thrombosis, but given its pro-inflammatory properties may potentially also increase the risk of myocardial infarction (MI). The results of this study indicate that there is a 2.2-fold increased risk (95% CI 0.9 - 5.4) of myocardial infarction (MI) associated with the common Coagulation Factor II G20210A polymorphism once adjusting for the potentially confounding factors age and gender. This was observed to be generally higher in females, especially older females (≥ 60 years), as well as in older males. The risk of MI associated with the Coagulation Factor II 20210A allele appears to be highest when present together with one or more major cardiovascular risk factors, with synergistic interactions being observed between the genotype and these major cardiovascular risk factors, possibly indicating a synergistic role for the Coagulation Factor II G20210A polymorphism in the aetiology of MI. The use of lipid-lowering and anti-inflammatory drugs, such as statins, appears to lower the risk of MI associated with the genotype but not eliminate it completely.