Related Experiment Video

Updated: Jun 3, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Evaluation of MTHFR C677T polymorphism in ischemic and hemorrhagic stroke patients. A case-control study in a

B I Somarajan1, J Kalita, B Mittal

  • 1Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

Journal of the Neurological Sciences
|March 17, 2011
PubMed

Insights

The MTHFR C677T gene variant is not linked to ischemic stroke or intracerebral hemorrhage. However, higher homocysteine levels were observed in ischemic stroke patients with the MTHFRC677-TT genotype.

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Stroke, encompassing ischemic stroke (IS) and intracerebral hemorrhage (ICH), is a leading cause of death and disability.
  • The methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism is investigated for its potential role in various vascular diseases.
  • Elevated homocysteine levels are a known risk factor for cerebrovascular events.

Purpose of the Study:

  • To investigate the association between the MTHFR C677T gene polymorphism and the risk of ischemic stroke (IS) and intracerebral hemorrhage (ICH).
  • To compare the frequency of MTHFR C677T genotypes and alleles in IS and ICH patients with healthy controls.
  • To examine the relationship between MTHFR C677T polymorphism and homocysteine levels in stroke patients.

Main Methods:

  • Case-control study involving 207 IS patients, 215 ICH patients, and 188 healthy controls.
  • Genotyping for the MTHFR C677T polymorphism was performed using polymerase chain reaction (PCR).
  • Clinical data, including stroke risk factors, stroke location, and hematoma location, were collected. Homocysteine levels were also assessed.

Main Results:

  • No significant differences in the frequency of MTHFR C677T genotypes or alleles were observed between IS patients, ICH patients, and controls.
  • The variant allele of MTHFR C677T was found to be more frequent in IS patients compared to ICH patients.
  • Elevated homocysteine levels were significantly associated with the MTHFRC677-TT genotype in IS patients.

Conclusions:

  • The MTHFR C677T gene polymorphism is not associated with an increased risk of either ischemic stroke or intracerebral hemorrhage.
  • A significant association exists between higher homocysteine levels and the MTHFRC677-TT genotype specifically in patients with ischemic stroke.
  • These findings suggest that while the MTHFR C677T polymorphism itself may not be a direct risk factor for stroke, its interaction with homocysteine metabolism is relevant in IS.
Abstract

Related Concept Videos

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 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.
Hemorrhagic Stroke ll: Pathophysiology01:29

Hemorrhagic Stroke ll: Pathophysiology

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...
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...