Related Experiment Video
Updated: Jun 24, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Polymorphisms of MMP-2 gene are associated with systolic heart failure risk in Han Chinese
Yihong Hua1, Li Song, Naqiong Wu
1Department of Cardiology, Fu Wai Hospital, Beijing, China.
Background:
Matrix metalloproteinases (MMPs) are a family of proteolytic enzymes responsible for protein degradation. MMP-2 has been demonstrated to play a pivotal role in myocardial remodeling process that occurs in congestive heart failure (HF). We hypothesized that MMP-2 genetic variations could be associated with systolic HF risk.
Methods:
To test the association of single nucleotide polymorphisms of MMP-2 with systolic HF risk, we performed a hospital-based, case-control study of 605 patients with systolic HF and 689 controls without HF. Three single nucleotide polymorphisms of MMP-2 (rs243864, rs243866, and rs17859821) were genotyped by restriction fragment length polymorphism methods.
Results:
The genotype frequencies of MMP-2 rs243866 AA and AG in the control group were significantly higher than that in the case group (24.7% versus 17.9%, P < 0.01). Compared with the GG homozygotes, MMP-2 rs243866 A allele carriers had a significantly lower risk of systolic HF (adjusted OR 0.69, 95% CI 0.49-0.98; P = 0.035). Haplotype analysis indicated the haplotype GGG (rs243864-rs17859821-rs243866) was associated with higher risk of systolic HF (adjusted OR 2.05, 95% CI 1.08-3.89; P = 0.028).
Conclusion:
The findings of the current study suggest that MMP-2 rs243866 A allele was associated with lower risk of systolic HF in Han Chinese.
Insights
Genetic variations in Matrix metalloproteinases-2 (MMP-2) were studied for their association with systolic heart failure (HF) risk. The MMP-2 rs243866 A allele was linked to a reduced risk of developing systolic HF in the Han Chinese population.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Biochemistry
Background:
- Matrix metalloproteinases (MMPs) are enzymes involved in protein degradation.
- MMP-2 plays a key role in myocardial remodeling, a process implicated in congestive heart failure (HF).
- Genetic variations in MMP-2 may influence the risk of developing systolic HF.
Purpose of the Study:
- To investigate the association between specific single nucleotide polymorphisms (SNPs) of MMP-2 and the risk of systolic HF.
- To determine if genetic variations in MMP-2 are predictive of systolic HF development.
Main Methods:
- A hospital-based case-control study was conducted with 605 systolic HF patients and 689 controls.
- Three MMP-2 SNPs (rs243864, rs243866, and rs17859821) were genotyped using restriction fragment length polymorphism (RFLP).
- Statistical analyses included genotype frequency comparison and haplotype analysis.
Main Results:
- The frequencies of MMP-2 rs243866 AA and AG genotypes were significantly higher in controls than in cases (P < 0.01).
- Carriers of the MMP-2 rs243866 A allele showed a significantly lower risk of systolic HF compared to GG homozygotes (adjusted OR 0.69, P = 0.035).
- Haplotype analysis revealed that the GGG haplotype (rs243864-rs17859821-rs243866) was associated with an increased risk of systolic HF (adjusted OR 2.05, P = 0.028).
Conclusions:
- The MMP-2 rs243866 A allele is associated with a reduced risk of systolic heart failure.
- These findings suggest a potential genetic marker for predicting systolic HF risk in the Han Chinese population.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Cardiomyopathy I: Introduction and Classification
Mitral Regurgitation I: Introduction
Heart Failure II: Pathophysiology
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase