Related Experiment Video
Updated: Jun 24, 2025
A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Association between matrix metalloproteinase-9-1562C/T gene polymorphism and MMP-9 serum level in rheumatoid
Farshad Foroughi1,2,3, Roghaye Keshavarz Sadegh3,4, Maryam Khalaji3,5
1Cellular and Molecular Research Center, Research Institute for Prevention of Non-Communicable Disease, Qazvin University of Medical Sciences, Qazvin, Iran.
Background:
Rheumatoid arthritis (RA) is an autoimmune disease indicated by joint inflammation and cartilage destruction. Matrix metalloproteinase (MMP) enzymes play an influential role in inflammation by affecting the invasion and degradation of anatomical barriers. In this way, the current study investigated the relationship between the MMP-9-1562C/T gene polymorphism and this enzyme's serum level in RA.
Methods:
The serum levels of MMP-9 in RA patients and healthy controls were measured using the enzyme-linked immunosorbent assay (ELISA). RA was confirmed using rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP), and C-reactive protein (CRP). Then the MMP-9-1562C/T gene polymorphism was analyzed utilizing polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Also, multivariate analysis investigated the connection between this polymorphism and the risk of RA.
Results:
In this study, the increase of MMP-9 in patients due to the development of single nucleotide polymorphism in the promoter region of this gene (-1562 C→T) was confirmed by increasing the frequency of heterozygous genotype (CT). Logistic regression analysis also demonstrated that the chance of development of RA is higher in people with CT/CC genotype than in other alleles.
Conclusions:
We demonstrated that MMP-9-1562C/T gene polymorphism can play a significant role in the occurrence of RA.
Insights
The MMP-9-1562C/T gene polymorphism is linked to an increased risk of rheumatoid arthritis (RA). This genetic variation may influence MMP-9 serum levels, contributing to RA development.
Area of Science:
- Genetics
- Immunology
- Biochemistry
Background:
- Rheumatoid arthritis (RA) is an autoimmune disease characterized by joint inflammation and cartilage damage.
- Matrix metalloproteinase-9 (MMP-9) enzymes are implicated in inflammatory processes and tissue degradation.
- The role of specific gene polymorphisms in RA pathogenesis requires further investigation.
Purpose of the Study:
- To investigate the association between the MMP-9-1562C/T gene polymorphism and serum MMP-9 levels in RA patients.
- To determine if this polymorphism correlates with the risk of developing RA.
Main Methods:
- Serum MMP-9 levels were quantified using ELISA in RA patients and healthy controls.
- RA diagnosis was confirmed via rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP), and C-reactive protein (CRP) assays.
- MMP-9-1562C/T gene polymorphism was analyzed using PCR and RFLP, followed by multivariate analysis.
Main Results:
- The frequency of the heterozygous genotype (CT) for the MMP-9-1562C/T polymorphism was increased in RA patients, indicating higher MMP-9 levels.
- Logistic regression analysis revealed a significantly higher risk of RA development in individuals with CT/CC genotypes compared to other alleles.
- These findings confirm the link between the -1562 C→T single nucleotide polymorphism in the MMP-9 promoter and elevated enzyme levels.
Conclusions:
- The MMP-9-1562C/T gene polymorphism plays a significant role in the pathogenesis of rheumatoid arthritis.
- This genetic variation may serve as a potential biomarker for RA risk assessment.
Related Concept Videos
01:23Role of Matrix Metalloproteases in Degradation of ECM
01:11Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
01:20The JAK-STAT Signaling Pathway