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Updated: Oct 25, 2025

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

Published on: April 1, 2019

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Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic

Gustavo Cernera1,2, Marika Comegna1,2, Monica Gelzo1,2

  • 1Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università di Napoli Federico II, 80131 Naples, Italy.

Medicina (Kaunas, Lithuania)
|August 6, 2021
PubMed

Insights

Genetic variants in methylene-tetrahydrofolate reductase (MTHFR) and other thrombotic pathway genes are associated with ischemic stroke (IS). These findings may aid in developing targeted IS prevention strategies.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Medicine

Background:

  • Ischemic stroke (IS) is a leading global cause of mortality.
  • Identifying predisposing factors for IS is crucial for risk stratification and treatment.
  • Understanding genetic contributions to IS can enhance preventative measures.

Purpose of the Study:

  • To investigate the association between thrombotic pathway gene variants and ischemic stroke.
  • To compare genetic profiles of IS patients, transient ischemic attack (TIA) patients, and the general population.
  • To explore potential differences in genetic risk factors across age groups.

Main Methods:

  • Genotyping of nine variants in thrombotic pathway genes.
  • Case-control study comparing 282 IS patients, 87 TIA patients, and 430 general population controls from southern Italy.
  • Analysis included young and child IS cases.

Main Results:

  • No significant genetic differences were found between TIA patients and the general population.
  • Allele frequencies of MTHFR C677T, beta-fibrinogen -455G>A, and FXIII V34L were significantly higher in IS patients compared to controls.
  • No significant gene-sex interactions were observed.

Conclusions:

  • Certain gene variants within the thrombotic pathway appear to play a role in the pathogenesis of ischemic stroke.
  • These genetic factors represent a potential avenue for developing specific IS prevention strategies.
  • Further large-scale population studies are warranted to validate these findings and inform clinical practice.

Keywords:
gene environmental interactionsgene variantsgenetic medicineinherited thrombophiliaischemic stroke

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