rs715572

This is a intron variant variant in the TIMP3 gene.

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Research that mentions this SNP (1)

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Polymorphisms in tissue inhibitors of metalloproteinases‐2 and ‐3 and breast cancer susceptibility and survival
AssociationN=2,131Neeraja B. Peterson et al.(2009)· International Journal of Cancer

Population-based case-control study in Chinese women examining TIMP-2 and TIMP-3 polymorphisms with breast cancer susceptibility and survival. TIMP-2 rs7501477 TT genotype increased breast cancer risk (OR 2.9, 95% CI 1.2-7.0). TIMP-3 rs8136803 TT genotype significantly increased breast cancer risk (OR 5.1, 95% CI 1.1-24.3) and worsened disease-free survival (HR 3.9, 95% CI 1.4-10.6), while rs9609643 AA genotype showed protective effect (OR 0.4, 95% CI 0.2-1.0).

Traits studied:breast cancer survivalbreast cancer susceptibilitydisease-free survivaloverall survival
PubMedDOIMetascience Observatory

About TIMP3

This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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