Genetic risk factors for stroke in the genome-wide association era

IMPORTANCE OF THE FIELD: Recent genome-wide association studies (GWASs) have renewed interest in genetic determinants of a wide range of complex traits and disorders, including stroke. AREAS COVERED IN THIS REVIEW: This paper reviews the current knowledge of genes that contribute to rare monogenic forms of stroke as well as more common 'garden variety' forms, focusing on the results of GWASs. Potential clinical pharmacogenetic and diagnostic applications of this information are considered. Publications from 1990 to September 2010 were identified through a Medline search using terms 'human stroke' and 'genetics', 'monogenic', 'familial', 'mutation', 'genome-wide association study', 'polymorphism', or 'genotype'. WHAT THE READER WILL GAIN: The review synthesizes and collates the current understanding of genes that are involved across a range of stroke subphenotypes. TAKE HOME MESSAGE: The complexity of stroke will make translation of genetic findings into new diagnostic or therapeutic tools relatively more challenging than for some other conditions and tempers the authors' enthusiasm for the eventual clinical utility of this information.