rs738791
This is a intron variant variant in the MMP11 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in matrix metalloproteinase genes as disposition factors for ovarian cancer risk, survival, and clinical outcomeAssociationN=834Yan Wang et al.(2015)· Molecular Carcinogenesis
A case-control association study of 339 ovarian cancer cases and 349 controls examined 266 SNPs in 23 matrix metalloproteinase (MMP) genes. Four SNPs were significantly associated with ovarian cancer risk after multiple-comparison adjustment: rs2292730 (MMP20, OR=2.03, p=0.0002), rs6094237 (MMP9, OR=0.53), rs12278250 (MMP20, OR=0.50), and rs9787933 (MMP20, OR=0.50). Thirty-four SNPs were associated with overall survival, with rs2239008 (MMP1, HR=3.10) being most significant. One SNP (rs7826929 in MMP16) was associated with chemotherapy response. Gene-dosage effects and higher-order interactions were detected among top SNPs.
About MMP11
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. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]
View all MMP11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…