rs2842980
This variant is located in the SOD2 gene.
▶Research that mentions this SNP (1)
▶Polymorphisms in oxidative stress‐related genes and postmenopausal breast cancer riskAssociationN=2,409Petra Seibold et al.(2011)· International Journal of Cancer
Two-stage case-control study in Spanish population examining 76 polymorphisms in 27 oxidative stress-related genes for breast cancer susceptibility. Six SNPs (rs1052133 in OGG1, rs406113 and rs974334 in GPX6, rs2284659 in SOD3, rs4135225 in TXN, rs207454 in XDH) were significantly associated with breast cancer risk. A four-variant interaction (rs406113, rs974334, rs1052133, rs2284659) showed increased risk with OR = 1.75 [95% CI: 1.26-2.44], p-value = 0.0008.
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…