RGD Reference Report - Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. - Rat Genome Database

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Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma.

Authors: Cotignola, J  Reva, B  Mitra, N  Ishill, N  Chuai, S  Patel, A  Shah, S  Vanderbeek, G  Coit, D  Busam, K  Halpern, A  Houghton, A  Sander, C  Berwick, M  Orlow, I 
Citation: Cotignola J, etal., BMC Med Genet. 2007 Mar 8;8:10.
RGD ID: 8547886
Pubmed: PMID:17346338   (View Abstract at PubMed)
PMCID: PMC1831467   (View Article at PubMed Central)
DOI: DOI:10.1186/1471-2350-8-10   (Journal Full-text)

BACKGROUND: Cutaneous Malignant Melanoma causes over 75% of skin cancer-related deaths, and it is clear that many factors may contribute to the outcome. Matrix Metalloproteinases (MMPs) play an important role in the degradation and remodeling of the extracellular matrix and basement membrane that, in turn, modulate cell division, migration and angiogenesis. Some polymorphisms are known to influence gene expression, protein activity, stability, and interactions, and they were shown to be associated with certain tumor phenotypes and cancer risk. METHODS: We tested seven polymorphisms within the MMP-9 gene in 1002 patients with melanoma in order to evaluate germline genetic variants and their association with progression and known risk factors of melanoma. The polymorphisms were selected based on previously published reports and their known or potential functional relevance using in-silico methods. Germline DNA was then genotyped using pyrosequencing, melting temperature profiles, heteroduplex analysis, and fragment size analysis. RESULTS: We found that reference alleles were present in higher frequency in patients who tend to sunburn, have family history of melanoma, higher melanoma stage, intransit metastasis and desmoplastic melanomas among others. However, after adjustment for age, sex, phenotypic index, moles, and freckles only Q279R, P574R and R668Q had significant associations with intransit metastasis, propensity to tan/sunburn and primary melanoma site. CONCLUSION: This study does not provide strong evidence for further investigation into the role of the MMP-9 SNPs in melanoma progression.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Neoplasm Metastasis  IAGP 8547886associated with skin melanoma and DNA:missense mutation:cds:p.Q279R (human)RGD 
Neoplasm Metastasis  ISOMMP9 (Homo sapiens)8547886; 8547886associated with skin melanoma and DNA:missense mutation:cds:p.Q279R (human)RGD 
skin melanoma disease progressionIAGP 8547886DNA:SNP more ...RGD 
skin melanoma disease progressionISOMMP9 (Homo sapiens)8547886; 8547886DNA:SNP more ...RGD 
Sunburn susceptibilityIAGP 8547886associated with skin melanoma more ...RGD 
Sunburn susceptibilityISOMMP9 (Homo sapiens)8547886; 8547886associated with skin melanoma more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal skin morphology susceptibilityIAGP 8547886associated with skin melanoma more ...RGD 
Cutaneous melanoma severityIAGP 8547886DNA:missense mutation:cds:p.Q279R RGD 
Cutaneous photosensitivity susceptibilityIAGP 8547886DNA:missense mutations:cds:p.Q279R and p.R668Q (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Mmp9  (matrix metallopeptidase 9)

Genes (Mus musculus)
Mmp9  (matrix metallopeptidase 9)

Genes (Homo sapiens)
MMP9  (matrix metallopeptidase 9)


Additional Information