Influence of matrix metalloproteinase genotype on cardiovascular disease susceptibility and outcome
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Updated: Aug 16, 2026

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Published on: May 31, 2016
1Human Genetics Division, School of Medicine, University of Southampton, UK. Shu.Ye@soton.ac.uk
Abstract:
Data have been accumulating that indicate that matrix metalloproteinase (MMP) gene polymorphisms contribute to inter-individual differences in susceptibility to and outcome of cardiovascular disease. This is currently best exemplified by the MMP3 gene 5A/6A polymorphism which has an effect on MMP3 expression and has been shown to be associated with coronary stenosis, myocardial infarction, coronary artery calcification, post-angioplasty coronary restenosis, carotid atherosclerosis, stroke, arterial stiffness, and blood pressure. Functional polymorphisms in the MMP1, MMP2, MMP7, MMP9, MMP12, and MMP13 genes have also been related to coronary artery disease, arterial stiffness, and/or abdominal aortic aneurysm. These genetic findings support the notion that MMPs play important roles in the pathogenesis of these conditions. There is also some evidence suggesting that MMP genotyping could aid in identifying patients who are likely to have unfavourable prognosis and/or adverse response to treatment.
Insights
Matrix metalloproteinase (MMP) gene variations influence cardiovascular disease risk and outcomes. MMP gene polymorphisms, particularly in MMP3, are linked to various cardiovascular conditions, highlighting their role in disease development.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Molecular Biology
Background:
- Matrix metalloproteinases (MMPs) are enzymes involved in extracellular matrix remodeling.
- Accumulating evidence suggests MMP gene polymorphisms contribute to cardiovascular disease (CVD) susceptibility and outcomes.
- Inter-individual variability in CVD may be partly explained by genetic factors affecting MMP function.
Purpose of the Study:
- To review the role of matrix metalloproteinase (MMP) gene polymorphisms in cardiovascular disease.
- To highlight the association of specific MMP polymorphisms with various cardiovascular conditions.
- To explore the potential clinical utility of MMP genotyping in patient management.
Main Methods:
- Literature review of studies investigating MMP gene polymorphisms and cardiovascular disease.
- Analysis of associations between specific MMP polymorphisms (e.g., MMP3 5A/6A) and clinical outcomes.
- Examination of functional evidence linking MMPs to cardiovascular pathogenesis.
Main Results:
- The MMP3 gene 5A/6A polymorphism significantly impacts MMP3 expression and is associated with coronary stenosis, myocardial infarction, and atherosclerosis.
- Polymorphisms in MMP1, MMP2, MMP7, MMP9, MMP12, and MMP13 genes are linked to coronary artery disease, arterial stiffness, and abdominal aortic aneurysm.
- These genetic associations support the critical role of MMPs in the development of cardiovascular diseases.
Conclusions:
- MMP gene polymorphisms are significant contributors to cardiovascular disease risk and progression.
- MMP genotyping may assist in identifying patients with poor prognosis or adverse treatment responses.
- Targeting MMP pathways could represent a future therapeutic strategy for cardiovascular conditions.
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