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Stroke Genetics: A Review and Update

Stroke DOI Stroke Genetics Network SiGN study: design and rationale for a genome-wide association study of ischemic stroke subtypes. Inducible histone K-to-M mutations are dynamic tools to probe the physiological role of site-specific histone methylation in vitro and in vivo. Single-cell transcriptomic atlas of the human retina identifies cell types associated with age-related macular degeneration.

Recent years have witnessed tremendous strides in our understanding of risk factors and prevention of stroke. Research into stroke risk factors has increasingly addressed the heterogeneous subtypes of strokes, including not only hemorrhagic versus ischemic stroke but also the several etiologic subtypes of stroke. Thus, studies have confirmed that lipids are a risk factor for atherosclerotic stroke, whereas AF and related atrial cardiopathies are associated with cardioembolic strokes.

Genetic analyses have benefited in particular from the emphasis on specific categories of stroke. Mutations in particular genes have now been associated with, and replicated in, large vessel, cardioembolic, and small vessel stroke subtypes. Genetic studies have also suggested new avenues to pursue in teasing out stroke pathogenesis. These studies suggest that in the future, precision medicine will enable clinicians to better focus treatments in cerebrovascular disease.

Meanwhile, several large clinical trials have provided evidence of the benefits of several medical and behavioral treatments in reducing stroke risk. Blood pressure reduction, statin therapy, antiplatelets, anticoagulants, carotid revascularization, and dietary changes have all been proven to reduce stroke risk in various patient populations. Just as importantly, some treatments, such as stenting of stenosed intracranial vessels, have not yet been proven of benefit. Observational studies provide strong evidence for other behavioral approaches, including smoking cessation and regular physical activity.


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Considerations of alternative approaches to prevention, in general, such as the mass approach using therapies like the polypill, using risk estimation in primary care and focusing on high-risk intervals of time after stroke triggers, also have the potential to dramatically change the future of stroke prevention. Table 5. Nonstandard Abbreviations and Acronyms AF atrial fibrillation. The other authors report no specific funding for this article.

The other authors report no conflicts. Home Circulation Research Vol. View PDF. Tools Add to favorites Download citations Track citations Permissions. Jump to.


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    Using Genetics to Predict Stroke Recovery

    Mitchell S. Elkind Mitchell S. Abstract Stroke is a heterogeneous syndrome, and determining risk factors and treatment depends on the specific pathogenesis of stroke. Download figure Download PowerPoint. Correspondence to Mitchell S. References 1. Heart disease and stroke statistics— update: a report from the American Heart Association. Link Google Scholar 2. Link Google Scholar 3. Link Google Scholar 4.

    American Heart Association Guide for Improving Cardiovascular Health at the Community Level, update: a scientific statement for public health practitioners, healthcare providers, and health policy makers. Link Google Scholar 5. Link Google Scholar 6.

    Silent brain infarcts: a systematic review. Lancet Neurol. Crossref Medline Google Scholar 7. Worldwide stroke incidence and early case fatality reported in 56 population-based studies: a systematic review. Crossref Medline Google Scholar 8. Global variation in stroke burden and mortality: estimates from monitoring, surveillance, and modelling.

    Crossref Medline Google Scholar 9. Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. Trial of Org in Acute Stroke Treatment. Crossref Medline Google Scholar Association of cholesterol with stroke risk varies in stroke subtypes and patient subgroups. Link Google Scholar The effectiveness of personalized coronary heart disease and stroke risk communication. Am Heart J. J Am Coll Cardiol. A score for predicting risk of death from cardiovascular disease in adults with raised blood pressure, based on individual patient data from randomised controlled trials.

    Probability of stroke: a risk profile from the Framingham Study. Common carotid intima-media thickness measurements in cardiovascular risk prediction: a meta-analysis. Stroke risk profile: adjustment for antihypertensive medication. The Framingham Study. A risk score for predicting stroke or death in individuals with new-onset atrial fibrillation in the community: the Framingham Heart Study.

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    A stroke prediction score in the elderly: validation and Web-based application. J Clin Epidemiol.

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    Utility of nontraditional risk markers in atherosclerotic cardiovascular disease risk assessment. Elkind MS. Why now? Moving from stroke risk factors to stroke triggers.