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BACKGROUND: Use of targeted exome-arrays with common, rare variants and functionally enriched variation has led to discovery of new genes contributing to population variation in risk factors. Plasminogen activator-inhibitor 1 (PAI-1), tissue plasminogen activator (tPA), and the plasma product D-dimer are important components of the fibrinolytic system. There have been few large-scale genome-wide or exome-wide studies of PAI-1, tPA, and D-dimer. OBJECTIVES: We sought to discover new genetic loci contributing to variation in these traits using an exome-array approach. METHODS: Cohort-level analyses and fixed effects meta-analyses of PAI-1 (n = 15 603), tPA (n = 6876,) and D-dimer (n = 19 306) from 12 cohorts of European ancestry with diverse study design were conducted, including single-variant analyses and gene-based burden testing. RESULTS: Five variants located in NME7, FGL1, and the fibrinogen locus, all associated with D-dimer levels, achieved genome-wide significance (P 

Original publication

DOI

10.1111/jth.15345

Type

Journal article

Journal

J Thromb Haemost

Publication Date

08/2021

Volume

19

Pages

2019 - 2028

Keywords

computational biology, exome, fibrinogen, fibrinolysis, genetic association study, Exome, Fibrin Fibrinogen Degradation Products, Fibrinogen, Fibrinolysis, Humans, Plasminogen Activator Inhibitor 1, Tissue Plasminogen Activator