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Published on: January 28, 2020
Matrix metalloproteinase 1 promoter polymorphisms and risk of myocardial infarction: a case-control study in a
Pablo Román-García1, Eliecer Coto, Julián R Reguero
1Servicio de Metabolismo Oseo y Mineral, Hospital Universitario Central de Asturias, Oviedo, Spain.
Objectives:
Inherited and acquired risk factors contribute to the development of the atherosclerotic lesion and its most common clinical manifestation, myocardial infarction (MI). Multiple studies have suggested a role for matrix metalloproteinases (MMPs) in atherosclerosis, and several functional polymorphisms in the MMP-1 gene have been linked to the risk of MI. The aim of this study was to evaluate the association between MMP-1 promoter polymorphisms and early MI in a Spanish cohort.
Methods:
We carried out a case-control study with 261 unrelated patients who had suffered an MI before 55 years of age and 194 healthy controls, all male and smokers. The genotypes for the three MMP-1 promoter polymorphisms -1607 1G/2G, -519 A/G, and -340 T/C were determined through PCR-restriction fragment length polymorphism. Allelic, genotypic, and haplotypic frequencies were statistically compared between groups.
Results:
Frequencies of the three polymorphisms did not differ between patients and controls. The -1607 1G/2G and -519 A/G variants were in linkage disequilibrium. Analysis of the haplotype frequencies showed significant associations of the 2G(-1607)-G(-519)-T(-340) (odds ratio = 2.40; 95% confidence interval = 1.27-4.55; P<0.006) and 1G(-1607)-G(-519)-T(-340) (odds ratio = 0.68; 95% confidence interval = 0.50-0.94; P<0.05) haplotypes with the risk of early MI.
Conclusion:
MMP-1 promoter polymorphisms are associated with the risk of early MI in a Spanish population of smoking males.
Insights
Matrix metalloproteinase-1 (MMP-1) promoter polymorphisms are linked to early myocardial infarction (MI) risk in Spanish male smokers. Specific MMP-1 gene variants influence susceptibility to this cardiovascular disease.
Area of Science:
- Cardiovascular Genetics
- Molecular Biology
- Atherosclerosis Research
Background:
- Atherosclerosis, leading to myocardial infarction (MI), involves inherited and acquired risk factors.
- Matrix metalloproteinases (MMPs), particularly MMP-1, are implicated in atherosclerotic lesion development.
- Functional polymorphisms in the MMP-1 gene have been associated with MI risk.
Purpose of the Study:
- To investigate the association between MMP-1 promoter polymorphisms and early-onset MI.
- To analyze specific MMP-1 gene variants in a Spanish cohort of male smokers.
Main Methods:
- A case-control study involving 261 male patients with early MI and 194 healthy male smokers.
- Genotyping of three MMP-1 promoter polymorphisms (-1607 1G/2G, -519 A/G, -340 T/C) using PCR-restriction fragment length polymorphism.
- Statistical comparison of allelic, genotypic, and haplotypic frequencies between cases and controls.
Main Results:
- No significant differences in individual polymorphism frequencies between MI patients and controls.
- Linkage disequilibrium observed between the -1607 1G/2G and -519 A/G variants.
- Significant associations found for specific MMP-1 haplotypes with early MI risk: 2G(-1607)-G(-519)-T(-340) (OR=2.40) and 1G(-1607)-G(-519)-T(-340) (OR=0.68).
Conclusions:
- MMP-1 promoter polymorphisms are associated with the risk of developing early myocardial infarction.
- Specific MMP-1 haplotypes contribute to varying risks of early MI in Spanish male smokers.
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