Variations in plasma levels of factor XI (FXI), the serine protease involved in the amplification of thrombin generation via the intrinsic pathway [1], draw particular interest for thromboembolism, as high FXI levels have been found associated with venous thrombosis, cerebrovascular events and severe coronary artery disease, both in humans and in animal models [2], [3] and [4]. Evidence for a substantial genetic control has been provided for FXI, which shows a noticeable degree of heritability. We investigated in four hundred thirty-nine Italian women, referred for a regional thrombophilia survey, whether the F11 intronic polymorphisms were associated with FXI activity levels and APTT, a comprehensive measure of the hemostatic balance. The F11 intragenic polymorphism rs2289252 was found to predict increased FXI activity levels and APTT only in thrombotic women and independently from age, which suggests interaction between genotypes and thrombotic status-associated factors contributing to thrombosis liability.
The F11 rs2289252 polymorphism is associated with FXI activity levels and APTT ratio in women with thrombosis
LUNGHI, Barbara;BERNARDI, Francesco;MARCHETTI, Giovanna
2012
Abstract
Variations in plasma levels of factor XI (FXI), the serine protease involved in the amplification of thrombin generation via the intrinsic pathway [1], draw particular interest for thromboembolism, as high FXI levels have been found associated with venous thrombosis, cerebrovascular events and severe coronary artery disease, both in humans and in animal models [2], [3] and [4]. Evidence for a substantial genetic control has been provided for FXI, which shows a noticeable degree of heritability. We investigated in four hundred thirty-nine Italian women, referred for a regional thrombophilia survey, whether the F11 intronic polymorphisms were associated with FXI activity levels and APTT, a comprehensive measure of the hemostatic balance. The F11 intragenic polymorphism rs2289252 was found to predict increased FXI activity levels and APTT only in thrombotic women and independently from age, which suggests interaction between genotypes and thrombotic status-associated factors contributing to thrombosis liability.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.