Related Experiment Video
Updated: May 5, 2026
06:01
A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
14.4K
Genetics studies in ischaemic stroke
1Clinical Neuroscience, St. George's University of London, Cranmer Terrace, London, SW17 0RE, UK, hmarkus@sgul.ac.uk.
Translational Stroke Research
|December 11, 2013
Summary
Genetic predisposition contributes to unexplained stroke risk. Genome-wide association studies (GWAS) identify genetic variants linked to stroke, including those found in atrial fibrillation and coronary artery disease, highlighting the need for precise stroke subtyping.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Background:
- Conventional stroke risk factors like hypertension explain only a portion of stroke incidence.
- Genetic predisposition is suspected to underlie a significant portion of unexplained stroke risk.
- Previous candidate gene studies for stroke have yielded limited success.
Purpose of the Study:
- To explore the utility of genome-wide association studies (GWAS) for identifying novel genetic associations with stroke.
- To investigate the role of genetic variants identified through GWAS in other cardiovascular diseases (atrial fibrillation, coronary artery disease) in stroke risk.
- To emphasize the importance of accurate stroke subtyping and intermediate phenotypes in genetic research.
Main Methods:
- Utilizing the genome-wide association study (GWAS) approach to analyze up to one million genetic polymorphisms (variants) across the genome.
- Leveraging existing GWAS data from atrial fibrillation and coronary artery disease studies.
- Examining intermediate phenotypes such as white matter hyperintensities on MRI and carotid intima-media thickness.
Main Results:
- GWAS approach has been successfully applied to other complex diseases, with stroke research now advancing.
- Genetic variants previously identified in atrial fibrillation and coronary artery disease are associated with increased stroke risk.
- Associations are often specific to particular stroke subtypes, underscoring the importance of accurate classification.
Conclusions:
- GWAS represents a powerful approach to uncover genetic underpinnings of stroke.
- Genetic variants influencing other cardiovascular conditions may also impact stroke risk.
- Accurate stroke subtyping and the use of intermediate phenotypes are crucial for advancing genetic research in stroke.
Related Concept Videos
01:15Ischemic Stroke ll: Pathophysiology
54
An ischemic stroke occurs when a cerebral blood vessel becomes obstructed, most often by a thrombus or embolus, interrupting the delivery of oxygen and glucose to brain tissue. Because neurons rely on continuous aerobic metabolism, energy failure begins within minutes of reduced perfusion. The region receiving the least blood flow becomes the infarct core, an area of irreversible cellular death. Surrounding this core lies the penumbra, a zone of hypoperfused but still viable tissue that is...
54
01:15Ischemic Stroke l: Introduction
44
Ischemic stroke is an acute cerebrovascular condition in which blood flow to a brain region is suddenly interrupted, leading to tissue infarction. Neurons depend on continuous oxygen and glucose supply, so even brief reductions in perfusion cause energy failure, ionic imbalance, and irreversible injury. Ischemic strokes are classified into thrombotic and embolic types based on their underlying mechanisms.Thrombotic MechanismsThrombotic stroke develops when a clot forms within a cerebral artery.
44
01:29Hemorrhagic Stroke ll: Pathophysiology
30
A hemorrhagic stroke develops when a cerebral blood vessel ruptures, allowing blood to escape into the surrounding brain tissue, as in intracerebral hemorrhage (ICH), or into the subarachnoid space, as in subarachnoid hemorrhage (SAH). Because the skull is a rigid compartment, the sudden presence of extravascular blood rapidly increases intracranial pressure and compresses adjacent neural structures, leading to immediate tissue injury and impaired cerebral perfusion.Mass Effect and Primary...
30
01:17Ischemic Heart Disease: Overview
3.8K
Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
3.8K
01:17Hemorrhagic Stroke l: Introduction
20
A hemorrhagic stroke is an acute neurological event that occurs when a weakened cerebral blood vessel ruptures, allowing blood to accumulate within or around the brain. The sudden release of blood forms a focal hematoma that increases intracranial pressure, displaces neural tissue, and can obstruct cerebrospinal fluid pathways. These effects may be compounded by intraventricular extension of the hemorrhage, cerebral edema, or compression of adjacent structures, all of which contribute to...
20
01:29Pharmacogenomics: Identification of New Drug Targets
121
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
121