rs1469862592

This variant is located in the SOD2 gene.

ClinVar annotation

Uncertain Significance
1 submitter1 publication
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Research that mentions this SNP (1)

Impact of MnSOD and GPx1 Genotype at Different Levels of Enteral Nutrition Exposure on Oxidative Stress and Mortality: A Post hoc Analysis From the FeDOx Trial
AssociationN=34Liam McKeever et al.(2021)· Journal of Parenteral and Enteral Nutrition

Post-hoc analysis of 34 mechanically ventilated sepsis patients examining the interaction between MnSOD (rs4880) and GPx1 (rs1050450) genotypes and enteral nutrition exposure on oxidative stress and ICU mortality. Patients carrying both at-risk alleles (Risk Group, 32.3% prevalence) showed higher oxidative stress and a trend toward increased mortality with high calorie exposure (50% mortality vs 20% with lower exposure), while the Non-Risk Group showed the opposite pattern (28.6% vs 44.4% mortality).

Traits studied:ICU mortalityOxidative stressSepsis severity

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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