Development and validation of a genetic probability for venous thromboembolism.

ABSTRACT:

Background

Factor V Leiden (FVL) and prothrombin gene mutations (PGMs), as well as recently developed polygenic scores (PGSs), have been consistently associated with venous thromboembolism (VTE) risk in European ancestry populations.

Objectives

This study aimed to develop an optimized risk-assessment tool combining mutations and PGS for diverse ancestry populations.

Methods

The association of VTE risk with FVL/PGM and PGS was tested using multivariable analyses in the UK Biobank. A genetic probability for VTE (GenProb-VTE) combining PGS and FVL/PGM was developed. Its discriminative and reclassification performances over FVL/PGM alone were assessed using observed VTE rate and the continuous net reclassification index, respectively. Results were validated in the Genomic

SUBMITTER: Shi Z 

PROVIDER: S-EPMC12149594 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature