Related Experiment Videos

Cryptogenic stroke in relation to genetic variation in clotting factors and other genetic polymorphisms among young

Harland Austin1, Marc I Chimowitz, Holly A Hill

  • 1Division of AIDS, STD, and TB Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, Public Health Service, US Department of Health and Human Services, Atlanta, Ga, USA. haustin@sph.emory.edu

Stroke
|December 7, 2002
PubMed

Insights

Genetic variations linked to blood clot formation are not significant risk factors for cryptogenic stroke in young adults. The tissue plasminogen activator D allele was more common in all ischemic stroke patients compared to historical controls.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Medicine

Background:

  • Cryptogenic stroke, or stroke of undetermined cause, is a significant clinical challenge.
  • Identifying genetic predispositions may offer insights into stroke etiology.
  • Previous hypotheses suggested prothrombotic genetic factors could contribute to cryptogenic stroke.

Purpose of the Study:

  • To investigate the association between specific genetic polymorphisms and cryptogenic stroke.
  • To compare genetic polymorphism prevalence in cryptogenic stroke patients versus non-cryptogenic stroke patients.
  • To evaluate genetic factors in the broader context of all ischemic stroke.

Main Methods:

  • Case-control study comparing young adults with cryptogenic stroke (n=67) to those with non-cryptogenic stroke (n=79).
  • Analysis of common genetic variations in genes related to thrombus formation (Factor V, prothrombin, ACE, MTHFR, eNOS, tPA, PAI-1, fibrinogen).
  • Comparison of allele prevalence in stroke patients against a large historical control group.

Main Results:

  • No statistically significant association was found between the studied genetic polymorphisms and cryptogenic stroke.
  • The prevalence of the tissue plasminogen activator (tPA) D allele was significantly higher in all ischemic stroke patients compared to historical controls (P=0.0014).

Conclusions:

  • The study does not support the hypothesis that prothrombotic genes are major risk factors for cryptogenic stroke in young individuals.
  • Apart from the tPA D allele, the investigated genetic factors appear unrelated or weakly related to all ischemic stroke.
  • Further research may be needed to elucidate the genetic underpinnings of stroke.
Abstract

Related Concept Videos

Ischemic Stroke l: Introduction01:15

Ischemic Stroke l: Introduction

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.
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Ischemic Stroke ll: Pathophysiology01:15

Ischemic Stroke ll: Pathophysiology

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...
Hemorrhagic Stroke l: Introduction01:17

Hemorrhagic Stroke l: Introduction

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...
Stroke: Introduction and Types01:29

Stroke: Introduction and Types

A stroke is an acute neurological event caused by the sudden disruption of cerebral blood flow, leading to rapid loss of neuronal function. Neurons depend on continuous oxygen and glucose supply, so even brief interruptions can cause irreversible injury within minutes. Strokes are classified into ischemic and hemorrhagic types.Ischemic StrokeIschemic strokes are most common and occur due to arterial occlusion, depriving brain tissue of oxygen and nutrients. This leads to energy failure, ionic...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...