Abstract
Background and aims
Despite growing evidence for the role of genetic factors in ischaemic stroke (IS), Latin American populations—particularly the genetically diverse and highly admixed Brazilian population—remain critically under-represented in global genomic consortia. This limits the generalisability of findings from large-scale studies such as MEGASTROKE and GIGASTROKE and constrains the implementation of precision medicine in the region.
The ÁRTEMIS-BRAZIL study aims to address this gap by assessing the prevalence and clinical relevance of known stroke-associated polymorphisms in Brazilians, characterising regional genomic and ancestry patterns, and investigating pharmacogenomic and retinal microvascular markers for stroke risk stratification, prevention, and prognosis.
Methods
This multicentre, prospective, case–control study will enrol 1,000 participants across Brazilian regions between 2025 and 2026, including 500 patients with IS and 500 controls. Whole-genome sequencing, retinography, clinical assessments, and neuroimaging are performed at baseline and throughout a five-year follow-up. Genetic analyses include ancestry inference, association testing of known stroke-related polymorphisms, and pharmacogenomic profiling. A subset of 250 participants (125 cases with cerebral small vessel disease and 125 controls) will be included in a cognitive sub-study to evaluate associations between APOE genotypes, plasma biomarkers (p-tau217, Aβ42/40, GFAP, NfL), neuroimaging findings, and cognitive decline over five years.
Results
The study is ongoing, with preliminary results expected in 2026.
Conclusions
This study will provide insights into the genetic architecture of stroke in Brazil and may generate evidence to support the implementation of genomic-guided prevention strategies within the public health system, helping to reduce the burden of stroke in an under-represented population.
Conflict of interest
Authors have nothing relevant to disclose regarding this work. The project is funded through PROADI-SUS, Ministry of Health of Brazil, Hospital Moinhos de Vento. ClinicalTrials.gov, NCT07186517.