Exome Array Analysis of Early-Onset Ischemic Stroke.
Jaworek T, Ryan KA, Gaynor BJ et al.
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Background and purpose: The genetic contribution to ischemic stroke may include rare- or low-frequency variants of high-penetrance and large-effect sizes. Analyses focusing on early-onset disease, an extreme-phenotype, and on the exome, the protein-coding portion of genes, may increase the likelihood of identifying such rare functional variants. To evaluate this hypothesis, we implemented a 2-stage discovery and replication design, and then addressed whether the identified variants also associated with older-onset disease.
330 African American cases, 393 European ancestry cases, 298 African American controls, 428 European ancestry controls
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