Related Experiment Video
Updated: Jul 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral
Robert Anton Kramer1, Robert Zimmermann1, Julian Strobel1
1Department of Transfusion Medicine and Hemostaseology, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, 91054 Erlangen, Germany.
Abstract:
Prothrombotic hereditary risk factors for cerebral vein thrombosis (CVT) are of clinical interest to better understand the underlying pathophysiology and stratify patients for the risk of recurrence. This study explores prothrombotic risk factors in CVT patients. An initial screening in patients of the outpatient clinic of the Department of Transfusion Medicine and Hemostaseology of the University Hospital Erlangen, Germany, revealed 183 patients with a history of CVT. An initial screening identified a number of common prothrombic risk factors, including Factor V Leiden (rs6025) and Prothrombin G20210A (rs1799963). All patients without relevant findings (58 individuals) were invited to participate in a subsequent genetic analysis of 55 relevant genes using next-generation sequencing (NGS). Three intron variants (ADAMTS13: rs28446901, FN1: rs56380797, rs35343655) were identified to occur with a significantly higher frequency in the CVT patient cohort compared to the general European population. Furthermore, the combined prevalence of at least two of four potentially prothrombic variants (FGA (rs6050), F13A1 (rs5985), ITGB3 (rs5918), and PROCR (rs867186)) was significantly higher in the CVT subjects. The possible impact of the identified variants on CVT is discussed.
More Related Videos
13:10Combined Near-infrared Fluorescent Imaging and Micro-computed Tomography for Directly Visualizing Cerebral Thromboemboli
Published on: September 25, 2016
18:30RNA-seq Analysis of Transcriptomes in Thrombin-treated and Control Human Pulmonary Microvascular Endothelial Cells
Published on: February 13, 2013
Related Concept Videos
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
Venous Thrombosis III: Interprofessional Care
Venous Thrombosis I: Introduction
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Varicose Veins II: Diagnostic Studies and Interprofessional Care