rs2758331

This is a intron variant variant in the SOD2 gene.

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Research that mentions this SNP (2)

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Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population
AssociationN=1,915Renato Assis Machado et al.(2019)· Environmental and Molecular Mutagenesis

Two-stage genetic study examining 28 SNPs in oxidative stress genes (SOD1, SOD2, SOD3, PON1, PON2, PON3) in relation to nonsyndromic cleft lip with or without cleft palate (NSCL/CP) in Brazilian population. Initial transmission disequilibrium test (TDT) on 325 trios identified gene-gene interactions, which were validated in case-control analysis (722 cases, 866 controls). PON1 rs2237583 C allele showed protective effect (OR=0.79, 95% CI 0.67-0.93, p=0.005), and multiple significant PON1-PON2-PON3 gene-gene interactions were detected after Bonferroni correction.

Traits studied:nonsyndromic cleft lip and palatenonsyndromic cleft lip onlynonsyndromic cleft lip with or without cleft palate
PubMedDOIMetascience Observatory
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SOD2 genetic variant associated with treatment‐related ototoxicity in cisplatin‐treated pediatric medulloblastoma
AssociationN=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.

Traits studied:Cisplatin-related ototoxicityTreatment-related hearing loss
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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