rs2239008
This variant is located in the MMP1 gene.
▶ClinVar annotation
▶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 MMP1
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
View all MMP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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