Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma Journal Article
| 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. |
| Article Title: | Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma |
| Abstract: | 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. © 2007 Cotignola et al; licensee BioMed Central Ltd. |
| Keywords: | adolescent; adult; child; controlled study; aged; human cell; major clinical study; single nucleotide polymorphism; disease course; cancer risk; cancer staging; phenotype; melanoma; metastasis; nevus; gelatinase b; genetic association; genetic variability; genotype; gene frequency; risk factor; age; dna; family history; nucleotide sequence; dna sequence; high risk population; genetic risk; computer model; glutamine; particle size; arginine; skin carcinogenesis; sunburn; sex; proline; dna fragment; lentigo; heteroduplex analysis |
| Journal Title: | BMC Medical Genetics |
| Volume: | 8 |
| ISSN: | 1471-2350 |
| Publisher: | Biomed Central Ltd |
| Date Published: | 2007-03-01 |
| Start Page: | 10 |
| Language: | English |
| DOI: | 10.1186/1471-2350-8-10 |
| PROVIDER: | scopus |
| PMCID: | PMC1831467 |
| PUBMED: | 17346338 |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 12" - "Export Date: 17 November 2011" - "CODEN: BMGMA" - "Molecular Sequence Numbers: GENBANK: AF538844;" - "Source: Scopus" |
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