Frequency of thrombophilia associated genes variants: population-based study.

ABSTRACT:

Background

Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may lead to the development of clinical manifestation. This state is the main factor promoting venous (rarely arterial) thromboembolism (VTE). Inherited thrombophilia is mainly associated with two pathogenic variants in the V coagulation factor (FV) and the prothrombin (FII) genes. The aim of our study was to evaluate the frequency of two pathogenic variants in FII and FV genes as inherited thrombophilia factors in a group within the Polish population in comparison with other described populations.

Methods

All studied groups consisted of 633 unrelated patients aged

SUBMITTER: Wawrusiewicz-Kurylonek N 

PROVIDER: S-EPMC7547497 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature