Dataset Information

Stroke Genetics Update: 2011.

ABSTRACT: Although stroke remains a leading cause of disability and mortality worldwide, recently there have been significant advances related to our understanding of the genetic basis of stroke. Ongoing research efforts put us on the cusp for major breakthroughs in the field. In this review, we present the substantial evidence for the contribution of genetic variation to the development of stroke, and the difficulties posed in the study of stroke given the numerous genetically driven risk factors and stroke subtypes. We emphasize recent findings implementing candidate gene and genome-wide association approaches. We then discuss how emerging knowledge is informing and reshaping our understanding of stroke biology and how, in the near term, genetics may be used clinically to identify individuals who are at risk of disease or who may derive benefit from specific treatment modalities. Lastly, we address ongoing and future approaches that will continue to improve our understanding of stroke genetics.

SUBMITTER: Cole JW

PROVIDER: S-EPMC3234118 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature

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Stroke Genetics Update: 2011.

Cole John W JW Meschia James F JF

Current cardiovascular risk reports 20111201 6

Although stroke remains a leading cause of disability and mortality worldwide, recently there have been significant advances related to our understanding of the genetic basis of stroke. Ongoing research efforts put us on the cusp for major breakthroughs in the field. In this review, we present the substantial evidence for the contribution of genetic variation to the development of stroke, and the difficulties posed in the study of stroke given the numerous genetically driven risk factors and str ...[more]

PMID: 22163054

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Project description:Stroke genetics includes several topics of clinical interest, including (1) molecular genetic variations affecting risk of monogenic stroke syndromes; (2) molecular genetic variations affecting risk of common stroke syndromes, sometimes with specific effects on risk of specific main types of stroke or subtypes of ischemic and hemorrhagic stroke; (3) genetics of conditions associated with stroke risk e.g. white matter hyperintensities, atrial fibrillation and hypertension; (4) hereditary causes of familial aggregation of stroke; (5) epigenetic impact on protein expression during acute brain injury; (6) genetic influence on stroke recovery; and (7) pharmacogenetics. Genetic research methods include candidate gene studies; Genome Wide Association Studies; family studies; RNA and protein analyses; and advanced computer-aided analytical methods to detect statistically significant associations. Several methods that could improve our knowledge of stroke genetics are being developed e.g.: Exome content analysis; Next-generation sequencing; Whole genome sequencing; and Epigenetics. During 2012-2014, several Single Nucleotide Polymorphisms (SNPs) have been related to common ischemic stroke risk. Certain SNPs have been associated with risk of specific ischemic stroke subtypes such as large vessel disease and cardiac embolism, particular subtypes of intracerebral hemorrhage (ICH), especially lobar ICH, and with prognosis after ICH. Large international studies on stroke recovery and exome content are ongoing. Advanced mathematical models have been used to study how several SNPs can act together and increase stroke risk burden. Such efforts require large numbers of patients and controls, which is achieved by co-operation in large international consortia such as the International Stroke Genetics Consortium. This overview includes an introduction to genetics, stroke genetics in general, and different genetic variations that may influence stroke risk. It presents some of the latest reports on stroke genetics published in high impact journals. The role of pharmacogenetics, the current clinical situation, and future prospects will also be discussed.

Dataset Information

Stroke Genetics Update: 2011.

Publications

Stroke Genetics Update: 2011.

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