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Published on: April 1, 2019
Polymorphisms in MMP-9 and TIMP-2 in Chinese patients with varicose veins
Hong-mei Xu1, Yun Zhao, Xiang-man Zhang
1Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai, China.
Insights
Genetic variations in MMP-9 and TIMP-2 promoters are linked to varicose veins (VVs) risk in the Chinese population. This study identifies potential genetic factors contributing to VV development.
Area of Science:
- Genetics
- Vascular Biology
- Molecular Medicine
Background:
- Varicose veins (VVs) are prevalent vascular diseases characterized by vein dilation and tortuosity.
- The underlying pathophysiology and molecular mechanisms of VVs remain largely unknown.
- Genetic predisposition to VVs is recognized, but specific genetic variants have not been identified.
Purpose of the Study:
- To investigate the association between promoter polymorphisms in Matrix Metalloproteinase-9 (MMP-9) and Tissue Inhibitor of Metalloproteinase-2 (TIMP-2) and the risk of developing VVs.
- To explore the role of these genetic variants in the Chinese population.
Main Methods:
- Genotyping of MMP-9 (-1562C/T) and TIMP-2 (-418G/C) promoter polymorphisms using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP).
- Analysis involved 60 patients diagnosed with VVs and 60 healthy control individuals.
- Sequencing of purified PCR products was performed for confirmation.
Main Results:
- A statistically significant correlation was observed between the MMP-9 -1562C/T polymorphism and the presence of VVs.
- The TIMP-2 gene polymorphism -418G/C also demonstrated a significant association with VVs.
Conclusions:
- Promoter region polymorphisms in MMP-9 and TIMP-2 are associated with an increased risk of varicose veins in the Chinese population.
- These findings suggest a potential genetic contribution of MMP-9 and TIMP-2 variants to the development of VVs.
Background:
Varicose veins (VVs), a common vascular disease, are functionally characterized by dilation and tortuosity and are widely prevalent in the adult population. The pathophysiology and molecular mechanism of VVs are still unclear. A genetic risk for VVs has been demonstrated, although no genetic variant pertaining to VVs has been identified. Matrix metalloproteinases (MMPs) and their endogenous tissue inhibitors (TIMPs), which can prevent excessive extracellular matrix (ECM) degradation, greatly impact vascular remodeling and may play a vital role in patients with VVs. We evaluated a potential association between polymorphisms in the promoters of MMP-9 and TIMP-2 and the risk for VVs in the Chinese population.
Materials And Methods:
Genotyping of the promoter region polymorphisms -1562C/T in MMP-9 and -418G/C in TIMP-2 was performed with PCR and restriction fragment length polymorphism (PCR-RFLP) assays with a group of 60 patients with VVs and 60 healthy controls. Purified PCR products were sequenced.
Results:
A significant correlation was found between patients with VVs and controls at -1562C/T in MMP-9. The TIMP-2 gene polymorphism -418G/C was also associated with VVs.
Conclusions:
Our results suggest that polymorphisms in the promoter region of MMP-9 and TIMP-2 are associated with VVs in the Chinese population.
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