RGD Reference Report - Variation in the matrix metalloproteinase-1 gene and risk of coronary heart disease. - Rat Genome Database

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Variation in the matrix metalloproteinase-1 gene and risk of coronary heart disease.

Authors: Ye, S  Gale, CR  Martyn, CN 
Citation: Ye S, etal., Eur Heart J. 2003 Sep;24(18):1668-71.
RGD ID: 1582537
Pubmed: PMID:14499230   (View Abstract at PubMed)

AIMS: Matrix metalloproteinase-1 (MMP-1), a proteolytic enzyme able to degrade types I and III collagens, is present in atherosclerotic lesions but absent from the normal blood vessel wall. The recent observation that, in a transgenic mouse model, MMP-1 gene expression slows the development and progression of atherosclerotic plaques suggests that it may play a role in human atherogenesis. We investigated whether coronary heart disease was associated with a functional polymorphism in the human MMP-1 gene. In addition, we examined a polymorphism in the human MMP-3 gene that was previously reported to be associated with progression of coronary atherosclerosis. METHODS AND RESULTS: We genotyped 471 Caucasian men and women, aged 66-75 years, from Sheffield, UK, for the 1G/2G polymorphism in the MMP-1 gene and the 5A/6A polymorphism in the MMP-3 gene and ascertained the prevalence of coronary heart disease. People homozygous for the more transcriptionally active 2G allele of the MMP-1 gene had a reduced risk of coronary heart disease (OR 0.5, 95% CI 0.3 to 0.9) compared to people homozygous for the less transcriptionally active 1G allele. Heterozygotes had an intermediate risk (OR 0.7, 95% CI, 0.5 to 1.1). We found no association between the 5A/6A polymorphism in the MMP-3 gene and risk of coronary heart disease. CONCLUSION: Sequence variants at the MMP-1 genomic locus may influence risk of coronary heart disease in humans.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MMP1HumanCoronary Disease susceptibilityIAGP DNA:insertion:promoter:g.-1607insG (human)RGD 
Mmp1RatCoronary Disease susceptibilityISOMMP1 (Homo sapiens)DNA:insertion:promoter:g.-1607insG (human)RGD 
Mmp1aMouseCoronary Disease susceptibilityISOMMP1 (Homo sapiens)DNA:insertion:promoter:g.-1607insG (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mmp1  (matrix metallopeptidase 1)

Genes (Mus musculus)
Mmp1a  (matrix metallopeptidase 1a (interstitial collagenase))

Genes (Homo sapiens)
MMP1  (matrix metallopeptidase 1)


Additional Information