rs2292730
This is a regulatory region variant variant in the MMP20 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 MMP20
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 protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]
View all MMP20 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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