RGD Reference Report - Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma. - Rat Genome Database

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Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma.

Authors: Lievre, A  Milet, J  Carayol, J  Le Corre, D  Milan, C  Pariente, A  Nalet, B  Lafon, J  Faivre, J  Bonithon-Kopp, C  Olschwang, S  Bonaiti-Pellie, C  Laurent-Puig, P  Laurent-Puig, Pierre 
Citation: Lievre A, etal., BMC Cancer. 2006 Nov 24;6:270.
RGD ID: 7207065
Pubmed: PMID:17125518   (View Abstract at PubMed)
PMCID: PMC1687194   (View Article at PubMed Central)
DOI: DOI:10.1186/1471-2407-6-270   (Journal Full-text)

BACKGROUND: Matrix metalloproteinases (MMP) have been shown to play a role in colorectal cancer (CRC). More recently, MMP1, MMP3 and MMP7 functional gene promoter polymorphisms have been found to be associated with CRC occurrence and prognosis. To document the role of MMP polymorphisms in the early step of colorectal carcinogenesis, we investigated their association with colorectal adenoma risk in a case-control study comprising 295 patients with large adenomas (LA), 302 patients with small adenomas (SA) and 568 polyp-free (PF) controls. METHODS: Patients were genotyped using automated fragment analysis for MMP1 -1607 ins/del G and MMP3 -1612 ins/delA (MMP3.1) polymorphisms and allelic discrimination assay for MMP3 -709 A/G (MMP3.2) and MMP7 -181 A/G polymorphisms. Association between MMP genotypes and colorectal adenomas was first tested for each polymorphism separately and then for combined genotypes using the combination test. Adjustment on relevant variables and estimation of odds ratios were performed using unconditional logistic regression. RESULTS: No association was observed between the polymorphisms and LA when compared to PF or SA. When comparing SA to PF controls, analysis revealed a significant association between MMP3 -1612 ins/delA polymorphism and SA with an increased risk associated with the 6A/6A genotype (OR = 1.67, 95% CI: 1.20-2.34). Using the combination test, the best association was found for MMP3.1-MMP1 (p = 0.001) with an OR of 1.88 (95% CI: 1.08-3.28) for the combined genotype 2G/2G-6A/6A estimated by logistic regression. CONCLUSION: These data show a relation between MMP1 -1607 ins/del G and MMP3 -1612 ins/delA combined polymorphisms and risk of SA, suggesting their potential role in the early steps of colorectal carcinogenesis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Colorectal Neoplasms susceptibilityIAGP 7207065DNA:insertion and haplotype:promoter:g.-1612insA (human)RGD 
Colorectal Neoplasms susceptibilityISOMMP3 (Homo sapiens)7207065; 7207065DNA:insertion and haplotype:promoter:g.-1612insA (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal large intestine morphology susceptibilityIAGP 7207065DNA:insertion and haplotype:promoter:g.-1612insA RGD 
Objects Annotated

Genes (Rattus norvegicus)
Mmp3  (matrix metallopeptidase 3)

Genes (Mus musculus)
Mmp3  (matrix metallopeptidase 3)

Genes (Homo sapiens)
MMP3  (matrix metallopeptidase 3)


Additional Information