Genetic polymorphisms and plasma levels of tissue factor and tissue factor pathway inhibitor in venous thromboembolism

Abstract

Tissue factor (TF) and tissue factor pathway inhibitor (TFPI) play important roles in coagulation. The aim of this study was to investigate the distributions of TF and TFPI polymorphisms in Koreans and to analyze the association of these genetic polymorphisms with plasma levels and development of venous thromboembolism (VTE). The polymorphisms TF 5466 A > G, TF -603 A > G, TFPI -287 T > C and TFPI -33 T > C were investigated in 40 Korean VTE patients and 40 age-matched and sex-matched controls by real-time PCR followed by melting curve analysis and DNA sequence analysis. Plasma levels of TF and TFPI were measured by enzyme-linked immunosorbent assay. The G allele of TF 5466 was not detected, and allelic frequencies of TF -603 G, TFPI -287 C and TFPI -33 C were 27.5, 67.5 and 16.2%, respectively. The distributions of TF and TFPI polymorphisms were not different between patients and controls. The presence of TF -603 G allele was correlated with low plasma TF levels (P = 0.029). Mean plasma TFPI levels were similar between TFPI genotypic groups. Although not statistically significant, plasma TF and TFPI levels were higher in patients than controls. The distributions of TF and TFPI polymorphisms in Koreans were considerably different from whites, suggesting ethnic variations. The TF -603 A > G polymorphism was significantly correlated with decreased plasma TF levels. Neither genetic polymorphisms in TF and TFPI nor their plasma levels seem to act as direct risk factors for VTE.