Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency.

ABSTRACT:

Objective

Antithrombin (AT) plays a critical role in the coagulation system, and its deficiency induces hypercoagulability. AT deficiency is caused not only by inherited variants in the SERPINC1 gene but also by acquired conditions. Therefore, AT deficiency alone could not ensure the presence of the SERPINC1 mutation. We evaluated the utility of the SERPINC1 gene test in ischemic stroke, an important clinical type of arterial thrombosis.

Methods

This retrospective, observational study investigated symptomatic patients who underwent the SERPINC1 gene test because of decreased AT activity (<80%) during 2009-2021 at a tertiary hospital. For the detection of sequence variants in the SERPINC1 gene, direct Sanger sequencing and multiplex ligation

SUBMITTER: Kim S 

PROVIDER: S-EPMC9203840 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature