GENES AND BIOMARKERS FOR THE DIAGNOSIS OF CARDIOEMBOLIC STROKE: CURRENT PERSPECTIVES

Cardioembolic stroke (CES), generally known as the most severe subtype of ischemic stroke, is related to many factors, including diabetes mellitus (DM), hypertension (HTN), smoking, hyperlipidemia and atrial fibrillation (AF) and is caused by a combination of environmental and genetic factors. Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. The assessment of several pathophysiological mechanisms could provide more prognostic information than the measurement of a single biomarker. Only 21% of studies reported ≥3 biomarkers simultaneously. In studies with full report of the final model, often the reported biomarker independently predicted poor outcome, whereas remaining biomarkers did not. In biomarker panel studies, >1 biomarker had an independent predictive value and a combination of biomarkers had a higher incremental value than a single biomarker.

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