RGD Reference Report - Polymorphisms in the promoter regions of matrix metalloproteinases 1 and 3 and cancer risk: a meta-analysis of 50 case-control studies. - Rat Genome Database

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Polymorphisms in the promoter regions of matrix metalloproteinases 1 and 3 and cancer risk: a meta-analysis of 50 case-control studies.

Authors: Peng, B  Cao, L  Wang, W  Xian, L  Jiang, D  Zhao, J  Zhang, Z  Wang, X  Yu, L 
Citation: Peng B, etal., Mutagenesis. 2010 Jan;25(1):41-8. doi: 10.1093/mutage/gep041. Epub 2009 Oct 20.
RGD ID: 7207056
Pubmed: PMID:19843588   (View Abstract at PubMed)
DOI: DOI:10.1093/mutage/gep041   (Journal Full-text)

Matrix metalloproteinase (MMP) 1 and MMP3 are enzymes that degrade the extracellular matrix and have been implicated to play an important role in cancer development. Many studies have been carried out on the association between polymorphisms of MMP1 -1607 1G>2G and MMP3 -1171 5A>6A and cancer risk. However, results from these studies remain inconclusive. Here, we performed a meta-analysis of >38 000 subjects to better assess the purported associations. For MMP1, -1607 2G/2G genotype carriers were found to have an increased risk of colorectal cancer [2G/2G versus 2G/1G + 1G/1G, odds ratio (OR) = 1.48, 95% confidence interval (CI) (1.26-1.74), P(heterogeneity) = 0.066, I(2) = 49.3%], head and neck cancer [2G/2G versus 2G/1G + 1G/1G, OR = 1.61, 95% CI (1.26-2.07), P(heterogeneity) = 0.002, I(2) = 64.7%] and renal cancer [2G/2G versus 2G/1G + 1G/1G, OR = 1.82, 95% CI (1.38-2.39), P(heterogeneity) = 0.589, I(2) = 0.0%] risk. For MMP3, no association was found between -1171 5A>6A polymorphism and cancer risk in the overall group [6A versus 5A, OR = 1.00, 95% CI (0.95-1.05), P(heterogeneity) = 0.124, I(2) = 24.9%] and individual cancer subgroups, but stratified analysis by smoking status showed that this polymorphism had different effects on smokers and non-smokers under recessive genetic model. In summary, our study suggests that MMP1 -1607 2G may be associated with an increased cancer risk for certain types of cancers, MMP3 -1171 5A>6A may not be a major risk factor for cancer, but it may be modified by certain environmental factors. Future studies with larger sample sizes are warranted to further evaluate these associations in more detail.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Head and Neck Neoplasms  IAGP 7207056DNA:insertion:promoter:g.-1607insG (human)RGD 
Head and Neck Neoplasms  ISOMMP1 (Homo sapiens)7207056; 7207056DNA:insertion:promoter:g.-1607insG (human)RGD 
Kidney Neoplasms  IAGP 7207056DNA:insertion:promoter:g.-1607insG (human)RGD 
Kidney Neoplasms  ISOMMP1 (Homo sapiens)7207056; 7207056DNA:insertion:promoter:g.-1607insG (human)RGD 
Lung Neoplasms no_associationIAGP 7207056DNA:insertion:promoter:g.-1607insG (human)RGD 
Lung Neoplasms no_associationISOMMP1 (Homo sapiens)7207056; 7207056DNA:insertion:promoter:g.-1607insG (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal lung morphology no_associationIAGP 7207056DNA:insertion:promoter:g.-1607insGRGD 
Abnormal renal morphology  IAGP 7207056DNA:insertion:promoter:g.-1607insGRGD 
Abnormality of head or neck  IAGP 7207056DNA:insertion:promoter:g.-1607insGRGD 
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