rs1141718

This is a protein-altering variant in the SOD2 gene.

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Research that mentions this SNP (2)

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Host genetic variations in glutathione-S-transferases, superoxide dismutases and catalase genes influence susceptibility to malaria infection in an Indian population
AssociationN=350Fernandes RC et al.(2015)· Molecular Genetics and Genomics

A case-control study of 200 malaria patients (100 P. vivax, 100 P. falciparum) and 150 healthy controls examined associations between polymorphisms in antioxidant enzyme genes and malaria susceptibility. GSTM1 deletion showed significant association with complicated P. vivax malaria (p=0.0007, OR=3.8, 95% CI 1.9-7.4). Polymorphisms in GSTP1 (rs1695), SOD1 (rs2234694), SOD2 (rs4880, rs1141718), SOD3 (rs2536512), and CAT (rs1001179) genes were also associated with malaria susceptibility, with SNP-SNP interactions identified through multifactor dimensionality reduction analysis.

Traits studied:Complicated malariaMalaria susceptibilityP. falciparum infectionP. vivax infection
PubMedDOIMetascience Observatory
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Variability in Ethanol Biodisposition in Whites Is Modulated by Polymorphisms in the Adh1b and Adh1c Genes
ReviewCarmen Martínez et al.(2010)· Hepatology

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

Traits studied:Bone density/osteoporosisCaffeine sensitivityCardiovascular diseaseCeliac diseaseCerebrovascular diseaseCoronary heart diseaseDetoxification capacityEating behaviorGlucose homeostasisHistamine intoleranceInflammatory diseasesInsulin resistanceLactose intoleranceLeptin resistanceMetabolic syndromeNickel intoleranceObesityOsteoarthritisOverweightType 2 diabetes
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]

View all SOD2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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