Exome Array Analysis of Early-Onset Ischemic Stroke.

ABSTRACT:

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.

Methods

Discovery was performed in UMD-GEOS Study (University of Maryland-Genetics of Early-Onset Stroke), a biracial population-based study of first-ever ischemic stroke cases 15 to 49 years of age (n=723) and nonstroke controls (n=726). All participants h

SUBMITTER: Jaworek T 

PROVIDER: S-EPMC7606344 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature