Circulation: Genomic and Precision Medicine Kiran Musunuru, MD, PhD, MPHB Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis Hugoline G. de Haan, MSc … Frits R. Rosendaal, MD, PhD Venous thrombosis (VT), a common complex disorder with a strong genetic basis, is associated with considerable mortality and morbidity. In 20% to 30% of the patients, VT recurs within 5 years of the first event. Patients whose first thrombotic event is not precipitated by any of the established clinical risk factors have an increased risk of recurrence. Apart from factor V Leiden, few genetic determinants of recurrence risk are known. In addition, it is unclear whether different genetic variants impact recurrence compared with a first VT, for example, genetic variants that impact the recanalization of the vein after a VT. We, therefore, conducted a genome-wide association analysis for recurrent VT to identify common genetic variants associated with recurrence risk. In addition to factor V Leiden, we observed a genetic locus at 18q22.1 to be significantly associated with recurrence and found additional evidence for this association in a replication study. The associated region may include regulatory sequences that could impact the expression of distant or nearby
Circulation: Cardiovascular Genetics – Wolters Kluwer Health
Published: Feb 1, 2018
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