Related Experiment Video
Updated: Jun 9, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Association between the -1562 C/T MMP-9 polymorphism and cerebrovascular disease in a Polish population
Piotr Szczudlik1, Anna Borratyńska
1Klinika Neurologii, Warszawski Uniwersytet Medyczny, ul. Banacha 1a, 00-097 Warszawa, Poland. pszczudlik@wum.edu.pl
Background And Purpose:
Matrix metalloproteinase 9 (MMP-9) is an endopeptidase degrading extracellular matrix. There is growing evidence that changes in extracellular matrix play an important role in vascular pathology, especially in cardiovascular and cerebrovascular disease. Previous studies have demonstrated that MMP-9 activity is controlled by --1562 C/T polymorphism. Genotypes with T allele (CT, TT) have higher enzymatic activity. Thus, this polymorphism could be responsible for the higher risk for cerebrovascular disease and death. The aim of this study was to assess the significance of MMP-9 polymorphism as a risk factor for cerebrovascular disease in a Polish population.
Material And Methods:
A total of 775 consecutive patients with a diagnosis of cerebrovascular disease (ischaemic stroke, intracerebral haemorrhage, subarachnoid haemorrhage) admitted to the Stroke Unit, Jagiellonian University, Krakow, Poland between 2000 and 2004 were studied and compared with 766 matched controls. The polymorphism was studied by polymerase chain reaction (PCR) and restricted enzyme digestion.
Results:
Among 418 patients with ischaemic stroke of various aetiologies and among 146 patients with primary intracerebral haemorrhage and 211 patients with subarachnoid haemorrhage due to ruptured intracranial aneurysm, statistical analysis did not show a significant difference between occurrence of CC, CT, TT genotypes or C and T alleles in patients with stroke of various aetiology compared with controls.
Conclusions:
We found no association between the -1562 C/T MMP-9 polymorphism and ischaemic stroke, subarachnoid haemorrhage or spontaneous intracerebral haemorrhage in the studied Polish population.
Insights
This study found no link between the MMP-9 -1562 C/T gene variant and cerebrovascular diseases like stroke in the Polish population. The MMP-9 polymorphism does not appear to increase the risk for these conditions.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Cardiovascular Research
Background:
- Matrix metalloproteinase 9 (MMP-9) degrades extracellular matrix, crucial in vascular pathology.
- The MMP-9 -1562 C/T polymorphism influences enzymatic activity, potentially affecting cerebrovascular disease risk.
- Previous research suggests a link between MMP-9 activity and vascular diseases.
Purpose of the Study:
- To investigate the association between the MMP-9 -1562 C/T polymorphism and cerebrovascular disease risk.
- To determine if this genetic variation is a significant risk factor for stroke in a Polish population.
Main Methods:
- A case-control study involving 775 patients with cerebrovascular disease (ischaemic stroke, intracerebral haemorrhage, subarachnoid haemorrhage) and 766 matched controls.
- Polymerase chain reaction (PCR) and restricted enzyme digestion were used to analyze the MMP-9 -1562 C/T polymorphism.
- Statistical analysis compared genotype and allele frequencies between patient and control groups.
Main Results:
- No statistically significant difference was observed in the frequencies of CC, CT, or TT genotypes of the MMP-9 -1562 C/T polymorphism between patients and controls.
- Analysis of C and T allele frequencies also revealed no significant association with ischaemic stroke, intracerebral haemorrhage, or subarachnoid haemorrhage.
- The study did not find evidence supporting the MMP-9 polymorphism as a risk factor for the studied cerebrovascular diseases.
Conclusions:
- The -1562 C/T polymorphism of MMP-9 is not associated with ischaemic stroke in the studied Polish population.
- No significant link was found between this MMP-9 polymorphism and subarachnoid haemorrhage or spontaneous intracerebral haemorrhage.
- These findings suggest that the MMP-9 -1562 C/T polymorphism may not play a significant role in the pathogenesis of major cerebrovascular events in this population.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Single Nucleotide Polymorphisms-SNPs
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenomics: Identification of New Drug Targets
Comparing Copy Number Variations and SNPs
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%...
