Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

ABSTRACT:

Background

Rare coding mutations underlying deficiencies of antithrombin and proteins C and S contribute to familial venous thromboembolism (VTE). It is uncertain whether rare variants play a role in the etiology of VTE in the general population.

Objectives

We conducted a deep whole-exome sequencing (WES) study to investigate the associations between rare coding variants and the risk of VTE in two population-based prospective cohorts.

Patients/methods

Whole-exome sequencing was performed in the Longitudinal Investigation of Thromboembolism Etiology (LITE), which combines the Atherosclerosis Risk in Communities (ARIC) study (316 incident VTE events among 3159 African Americans [AAs] and 458 incident VTEs among 7772 European Americans [EAs]) and the Cardiovascular Healt

SUBMITTER: Tang W 

PROVIDER: S-EPMC7787541 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature