An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis.

Kramer R, Zimmermann R, Strobel J, Achenbach S, Stroebel A, Hackstein H, Messerer DAC, Schneider S (2023)

Publication Type: Journal article

Publication year: 2023

Journal

International Journal of Molecular Sciences MDPI

Book Volume: 24

Journal Issue: 9

DOI: 10.3390/ijms24097976

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.

Authors with CRIS profile

Robert Kramer Department of Transfusion Medicine and Haemostaseology Robert Zimmermann Medizinische Fakultät Julian Strobel Medizinische Fakultät Susanne Achenbach Department of Transfusion Medicine and Haemostaseology Holger Hackstein Professur für Transfusionsmedizin und Cell-Engineering David Alexander Christian Messerer Department of Transfusion Medicine and Haemostaseology Sabine Schneider Department of Transfusion Medicine and Haemostaseology

How to cite

APA:

Kramer, R., Zimmermann, R., Strobel, J., Achenbach, S., Stroebel, A., Hackstein, H.,... Schneider, S. (2023). An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis. International Journal of Molecular Sciences, 24(9). https://dx.doi.org/10.3390/ijms24097976

MLA:

Kramer, Robert, et al. "An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis." International Journal of Molecular Sciences 24.9 (2023).

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