rs5746151
This is a regulatory region variant variant in the SOD2 gene.
▶Research that mentions this SNP (1)
▶SOD2 genetic variant associated with treatment‐related ototoxicity in cisplatin‐treated pediatric medulloblastomaAssociationN=71Austin L. Brown et al.(2015)· Cancer Medicine
A case-control association study of 71 pediatric medulloblastoma patients found that the SOD2 rs4880 C-allele (Val158Met) was significantly associated with cisplatin-related ototoxicity (OR = 3.06, 95% CI: 1.30-7.20, FDR q = 0.040). The Ala variant conferred 46% ototoxicity risk in C-allele carriers versus 15% in non-carriers, with predicted probabilities of 10.8% (TT), 39.4% (TC), and 54.2% (CC). Two additional SOD2 variants (rs5746136, rs2758331) showed suggestive associations.
About SOD2
This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
View all SOD2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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