rs3918251
This is a regulatory region variant variant in the MMP9 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic variants in the metzincin metallopeptidase family genes predict melanoma survivalAssociationN=1,267Yinghui Xu et al.(2018)· Molecular Carcinogenesis
A two-stage association study of 1,267 melanoma patients identified 4 independent SNPs in metzincin metallopeptidase family genes predicting melanoma-specific survival: rs10090371 in MMP16 (HR=1.73, P=9.68E-05), rs788935 in ADAMTS3 (HR=1.46, P=0.002), rs10882807 in TLL2 (HR=1.68, P=3.32E-05), and rs3918251 in MMP9 (HR=0.67, P=0.003). Combined genetic variants improved survival prediction when added to clinical variables.
About MMP9
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]
View all MMP9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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