Related Experiment Video
Updated: Jun 20, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Haplotypes and 5A/6A polymorphism of the matrix metalloproteinase-3 gene in coronary disease: case-control study and
Werner Koch1, Antoinette de Waha, Petra Hoppmann
1Deutsches Herzzentrum München and 1. Medizinische Klinik, Klinikum rechts der Isar, Technische Universität München, Lazarettstrasse 36, Munich, Germany. wkoch@dhm.mhn.de
Objective:
Matrix metalloproteinase-3 and its gene, MMP3, have been implicated in atherosclerotic diseases of coronary arteries. We conducted a haplotype analysis to examine the role of common variation of MMP3 in myocardial infarction (MI) and a meta-analysis to combine available evidence on the association between the 5A/6A polymorphism (rs3025058) and coronary diseases.
Methods And Results:
Genotype distributions of haplotype-tagging single nucleotide polymorphisms (rs522616, rs650108, rs569444, rs635746) and rs3025058 were not significantly different between a group with MI (n=3657) and a control group (n=1211) (p> or =0.24). Five major haplotypes were established, and their frequencies were not substantially different between the case and control groups (p> or =0.11). In a meta-analysis of 15 studies (10,061 cases, 8048 controls), the overall risk of coronary disease was not different between the carriers of the 5A allele and 6A6A genotype of rs3025058 (OR, 1.00; 95% CI, 0.85-1.19). Moderate trends of a reduced risk in the 5A allele carriers of European ancestry (OR, 0.87; 95% CI, 0.76-1.00) and an increased risk in the 5A allele carriers from East Asia (OR, 1.33; 95% CI, 0.94-1.90) were observed.
Conclusions:
Individual polymorphisms and haplotypes of MMP3 were not associated with MI in a German case-control study. Evidence was obtained to suggest different risk effects of rs3025058 between Europeans and East Asians.
Insights
Matrix metalloproteinase-3 (MMP3) gene variations were not linked to myocardial infarction (MI) in a German study. However, the 5A/6A polymorphism (rs3025058) showed varied risks for coronary disease in Europeans versus East Asians.
Area of Science:
- Genetics and Cardiovascular Disease Research
Background:
- Matrix metalloproteinase-3 (MMP3) and its gene are implicated in atherosclerotic diseases.
- Common variations in MMP3 may influence susceptibility to myocardial infarction (MI).
Purpose of the Study:
- To investigate the role of common MMP3 variations in MI through haplotype analysis.
- To conduct a meta-analysis on the association between the MMP3 5A/6A polymorphism (rs3025058) and coronary diseases.
Main Methods:
- Haplotype analysis of MMP3 single nucleotide polymorphisms in a German MI case-control study (3657 cases, 1211 controls).
- Meta-analysis of 15 studies (10,061 cases, 8048 controls) examining the rs3025058 polymorphism and coronary disease risk.
Main Results:
- No significant differences in genotype or haplotype frequencies of MMP3 were found between MI patients and controls.
- The meta-analysis showed no overall association between rs3025058 (5A/6A polymorphism) and coronary disease risk (OR, 1.00; 95% CI, 0.85-1.19).
- Trends indicated a reduced risk for 5A allele carriers of European ancestry and an increased risk for those from East Asia.
Conclusions:
- Individual MMP3 polymorphisms and haplotypes are not associated with MI in the studied German population.
- The rs3025058 polymorphism may have differential effects on coronary disease risk across ethnic groups, specifically between Europeans and East Asians.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Single Nucleotide Polymorphisms-SNPs