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EAN 2021 | Genetics for personalized stroke prevention and management

Anita Arsovska, MD, PhD, University of Ss Cyril and Methodius, Medical Faculty, Skopje, Macedonia, discusses the development of personalized preventive approaches for stroke prevention in neurogenetic disorders. Family and twin studies have identified a genetic component to the risk of both ischemic stroke and intracerebral hemorrhage. Additionally, there are several rare single gene disorders that present with stroke as one of their clinical manifestations. Genome-wide association study (GWAS) data from over 19,000 participants in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium identified several significant associations with stroke risk. For example, the single nucleotide polymorphism (SNP) rs12425791 was associated with increased risk for both total stroke and ischemic stroke risk, apolipoprotein E E2 and E4 alleles were associated with increased risk of intracerebral hemorrhage, and SNP rs3744028 was linked to white matter hyperintensity burden (a powerful stroke risk factor). Prof. Arsovska also talks on the growing relevance of pharmacogenetics in stroke management, such as for the prediction of tissue plasminogen activator response and anti-coagulant metabolism. This interview took place during the European Academy of Neurology 2021 congress.