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From SNPedia

Geno Mag Summary
(-;-) 5A/5A; higher MI risk?
(-;T) 5A/6A
(T;T) 6A/6A; higher CAD risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs3025058
23andMe allrs3025058
SNP Nexus

GWAS Ctlgrs3025058
Max Magnitude
SNP rs3025058 was first described in 1995 as a variant upstream of, and influencing the regulation of, the MMP3 gene. Most commonly, the version of this SNP with a run of 5 A's is called the 5A allele, and an allele with 6 A's is called 6A. Thus, the homozygous genotypes are either 5A/5A or 6A/6A, and the heterozygote genotype is published as 5A/6A. Incidentally, the MMP3 gene is also called stromelysin-1, and although there is a SNP in dbSNP in the orientation that shows the polynucleotide run as A's (rs35068180) the entry that has population frequency data is the one discussed here, rs3025058, which is from the other strand and thus shows the string as T's.

There have been numerous studies in the last 10+ years linking either the 5A or 6A allele to risk for myocardial infarction or coronary artery disease. A relatively recent meta-analysis combining seven previously published studies concluded that the 5A allele is indeed a plaque-disrupting risk factor (odds ratio 1.26, CI: 1.1 - 1.4, p<0.001), while the 6A allele is associated with greater progression of coronary atherosclerosis and the 6A/6A genotype is associated with a worse progression of coronary artery disease after angioplasty. However, all these studies show a lot of heterogeneity, and gender, age, and ethnicity are all likely to alter the influence of these alleles. [PMID 16905683OA-icon.png]

[PMID 19263529OA-icon.png] rs1799864(G), rs3025058(A) and rs662 were associated with increased risk, and rs1800775(A) with reduced risk of recurrent venous thromboembolism


[PMID 19508478] no influence on varicose veins

[PMID 19762026] Haplotypes and 5A/6A polymorphism of the matrix metalloproteinase-3 gene in coronary disease: Case-control study and a meta-analysis

[PMID 20038976OA-icon.png] Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

[PMID 18606478] Matrix metalloproteinase 3 haplotypes and plasma amyloid beta levels: the Rotterdam Study

[PMID 21244504] Association of matrix metalloproteinase gene polymorphism with temporomandibular joint degeneration

[PMID 20827277OA-icon.png] Matrix metalloproteinase haplotypes associated with coronary artery aneurysm formation in patients with Kawasaki disease

[PMID 16311244] Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer.

[PMID 16356191OA-icon.png] Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study.

[PMID 17107626OA-icon.png] Comparison of PrASE and Pyrosequencing for SNP Genotyping.

[PMID 17763953] Matrix metalloproteinase (MMP)-3 polymorphism in patients with HBV related chronic liver disease.

[PMID 17958893OA-icon.png] Functional polymorphisms in the promoter regions of MMP2 and MMP3 are not associated with melanoma progression.

[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19318431OA-icon.png] No association between matrix metalloproteinase-1 or matrix metalloproteinase-3 polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study.

[PMID 19321798OA-icon.png] Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis.

[PMID 19330901OA-icon.png] Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

[PMID 19406964OA-icon.png] Association of genetic variants with chronic kidney disease in Japanese individuals.

[PMID 19559392OA-icon.png] A candidate gene association study of 77 polymorphisms in migraine.

[PMID 19664242OA-icon.png] Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection.

[PMID 20113256] Matrix metalloproteinase-7 (MMP-7) polymorphism is a risk factor for endometrial cancer susceptibility.

[PMID 20436380] Lack of association between the promoter polymorphisms of MMP-3 and IL-6 genes and adolescent idiopathic scoliosis: a case-control study in a Chinese Han population.

[PMID 21161369] Current evidence on the relationship between four polymorphisms in the matrix metalloproteinases (MMP) gene and breast cancer risk: a meta-analysis.

[PMID 22121090] Matrix metalloproteinase3 gene promoter polymorphisms and their haplotypes are associated with gastric cancer risk in eastern Indian population.

[PMID 22776467] Age at onset of rheumatoid arthritis: association with polymorphisms in the vascular endothelial growth factor A(VEGFA) gene and an intergenic locus between matrix metalloproteinase (MMP) 1 and 3 genes

[PMID 23813847] The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis

[PMID 23926017] [Association of matrix metalloproteinase-3 gene polymorphisms with subtypes of ischemic stroke]

[PMID 23274712OA-icon.png] Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.

[PMID 25711032] [Association of matrix metalloproteinases' polymorphisms of MMP3 and MMP9 with development of genital endometriosis]

[PMID 25292126] Matrix metalloproteinase 3 polymorphisms as a potential marker of enhanced susceptibility to lung cancer in chronic obstructive pulmonary disease subjects

[PMID 26754027] Genetic polymorphisms in MMP 2, 3 and 9 genes and the susceptibility of osteosarcoma in a Chinese Han population.