Rs4880

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Orientationminus
is asnp
is mentioned by
dbSNPrs4880
PheGenIrs4880
nextbiors4880
hapmaprs4880
1000 genomesrs4880
hgdprs4880
ensemblrs4880
gopubmedrs4880
geneviewrs4880
scholarrs4880
googlers4880
pharmgkbrs4880
gwascentralrs4880
openSNPrs4880
23andMers4880
23andMe allrs4880
SNP Nexus

SNPshotrs4880
SNPdbers4880
MSV3drs4880
GeneSOD2
Merged fromRs1799725
Chromosome6
Orientationminus
GMAF0.3705
Position159692840
ReferenceGRCh38 38.1/141
Max Magnitude1.1
Geno Mag Summary
(C;C) 1.1 complex! see rs4880
(C;T) 1.1 complex! see rs4880
(T;T) 1.1 complex! see rs4880
? (C;C) (C;T) (T;T) 28
The rs4880(T) allele, part of the codon for amino acid valine at codon 16 of the antioxidant protein from the mitochrondrial superoxide dismutase 2 SOD2 gene, is the most common in most populations studied. The rs4880(C) allele gives rise to an alanine at this position is it also known as Val16Ala manganese superoxide dismutase, or A16V.

There appears to be some conflict in the literature over the effect of this SNP. Having a valine at codon 16 is said to reduce enzyme activity [PMID 15864132], and thus lead to increased oxidative stress, yet in at least one study of the actual enzyme levels measured in people, SOD2 activity was 33% higher in (C;T) or (T;T) individuals compared to (C;C) individuals [PMID 16538174]. Regardless of how this resolves, several phenotypic associations have been reported for this SNP, including:

  • An increased risk of malignant pleural mesothelioma (MPM) was found in individuals with rs4880(C;C) (OR = 3.07, CI: 1.55-6.05) genotypes. Odds ratios for developing mesothelioma were even higher for patients lacking obvious exposure to asbestos fibers. [PMID 17290392]
  • Among prostate cancer patients with a rs4880(T;T) genotype, but not the (C;C) genotype, higher iron intake level was associated with a 2.3-fold increase in risk for aggressive forms of the cancer (OR=2.3, CI: 1.0-4.9).[PMID 18296681OA-icon.png]
  • rs4880(C;T) prostate cancer patients being treated by radiation therapy are more likely (8% compared to 0%, p=0.02) to exhibit a significant increase in grade 2 late rectal bleeding after irradiation than (C;C) or (T;T) patients, based on a study of 135 patients. The odds for this are worse if the patient also has the rs861539(C;T) genotype (14% vs 1%, p=0.002).[PMID 18582155]
  • A study of non-Hispanic Caucasians with various types of brain tumors concluded that there was an increased risk of acoustic neuroma (odds ratio 2.0, CI: 1.1-2.7) associated with the alanine-encoding rs4880(C) allele.[PMID 18682580OA-icon.png]

The C allele of rs4880 appears to be associated with Alzheimer's disease. [PMID 17376152] rs2758346 rs4880 and rs2855116 association with Alzheimer's disease

Neighborrs1799725
Distance1


[PMID 19493484] Association between SNPs in SOD2 and noise-induced hearing loss

OMIM612634
DescMICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6; MVCD6
Variant
Relatedalso

[PMID 19706356] Functional polymorphism in manganese superoxide dismutase and antioxidant status: Their interactions on the risk of cervical intraepithelial neoplasia and cervical cancer

[PMID 19753309OA-icon.png] SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy

[PMID 19778569] Oxidative stress in tardive dyskinesia: Genetic association study and meta-analysis of NADPH quinine oxidoreductase 1 (NQO1) and Superoxide dismutase 2 (SOD2, MnSOD) genes

[PMID 19863340] Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood


[PMID 20043000OA-icon.png] Association of SOD2, a Mitochondrial Antioxidant Enzyme, with Gray Matter Volume Shrinkage in Alcoholics


[PMID 20082738] Inter-individual variation in DNA damage and base excision repair in young, healthy non-smokers: effects of dietary supplementation and genotype


[PMID 20534900OA-icon.png] SOD2 V16A SNP in the mitochondrial targeting sequence is associated with noise induced hearing loss in Chinese workers

[PMID 20378690] Genetic variants in selenoprotein genes increase risk of colorectal cancer





[PMID 21062213] Manganese superoxide dismutase dimorphism relationship with severity and prognosis in cardiogenic shock due to dilated cardiomyopathy

OMIM147460
Desc
Variant0001
Relatedalso


[PMID 21567099] Estrogen metabolism genotypes, use of long-term hormone replacement therapy and risk of postmenopausal breast cancer


[PMID 21795425OA-icon.png] Genetic Variation in Myeloperoxidase Modifies the Association of Serum {alpha}-Tocopherol with Aggressive Prostate Cancer among Current Smokers


[PMID 21915362OA-icon.png] Sequence variants in antioxidant defense and DNA repair genes, dietary antioxidants, and pancreatic cancer risk


[PMID 22144047OA-icon.png] A single-nucleotide polymorphism in the MTHFR (methylene tetrahydrofolate reductase) gene is associated with risk of radiation pneumonitis in lung cancer patients treated with thoracic radiation therapy


[PMID 22206979] Genetic variants in antioxidant genes are associated with sperm DNA damage and risk of male infertility in a Chinese population


[PMID 21338322] Parameters of oxidative stress, DNA damage and DNA repair in type 1 and type 2 diabetes mellitus


[PMID 21351093] Association of superoxide dismutases and NAD(P)H quinone oxidoreductases with prognosis of patients with breast carcinomas


ClinVar
Risk rs4880(C;C)
Alt rs4880(C;C)
Reference rs4880(T;T)
Significance 255
Disease SUPEROXIDE DISMUTASE 2 POLYMORPHISM, Microvascular complications of diabetes 6
ClinVar info
Gene SOD2
CLNDBN SUPEROXIDE DISMUTASE 2 POLYMORPHISM, Microvascular complications of diabetes 6
Reversed 1
CLNHGVS NC_000006.11:g.160113872A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015872.1, RCV000015873.1



[PMID 16385446OA-icon.png] A testing framework for identifying susceptibility genes in the presence of epistasis.


[PMID 16543247] Polymorphisms in oxidative stress genes and risk for non-Hodgkin lymphoma.


[PMID 16945136OA-icon.png] Gene x Gene interaction between MnSOD and GPX-1 and breast cancer risk: a nested case-control study.


[PMID 17293864] A common coding variant in CASP8 is associated with breast cancer risk.


[PMID 17601350OA-icon.png] A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.


[PMID 17825092OA-icon.png] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18212354OA-icon.png] Genes in glucose metabolism and association with spina bifida.


[PMID 18340529OA-icon.png] A prospective study of genetic polymorphism in MPO, antioxidant status, and breast cancer risk.


[PMID 18423055OA-icon.png] Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus.


[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.


[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.


[PMID 18704161OA-icon.png] Genetic variation in an individual human exome.


[PMID 18781856] Genetic underpinnings of tardive dyskinesia: passing the baton to pharmacogenetics.


[PMID 19074884OA-icon.png] Interaction between single nucleotide polymorphisms in selenoprotein P and mitochondrial superoxide dismutase determines prostate cancer risk.


[PMID 19428448OA-icon.png] The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old.


[PMID 19505917OA-icon.png] Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors.


[PMID 19754948OA-icon.png] Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.


[PMID 19946932] Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjects.


[PMID 20444272OA-icon.png] Gene polymorphisms against DNA damage induced by hydrogen peroxide in leukocytes of healthy humans through comet assay: a quasi-experimental study.


[PMID 20445800OA-icon.png] Genetic Polymorphisms in Genes Related to Oxidative Stress (GSTP1, GSTM1, GSTT1, CAT, MnSOD, MPO, eNOS) and Survival of Rectal Cancer Patients after Radiotherapy.


[PMID 20477822OA-icon.png] Single-nucleotide polymorphisms within the antioxidant defence system and associations with aggressive prostate cancer.


[PMID 20644561] A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer.


[PMID 20728955] Association between the rs4880 superoxide dismutase 2 (C>T) gene variant and coronary heart disease in diabetes mellitus.


[PMID 20872977OA-icon.png] Mn-SOD and CuZn-SOD polymorphisms and interactions with risk factors in gastric cancer.


[PMID 20966810] Superoxide dismutase and nicotinamide adenine dinucleotide phosphate: quinone oxidoreductase polymorphisms and pancreatic cancer risk.


[PMID 21181397] Association of the C47T polymorphism in SOD2 with diabetes mellitus and diabetic microvascular complications: a meta-analysis.


[PMID 21240526] Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review.


[PMID 21595856] Genetic polymorphisms in antioxidative enzymes are associated to forced expiratory volume in 1 s (FEV1) in smokers independently of asthma.


[PMID 21741706] Correlation of CYP2B6, CYP2C19, ABCC4 and SOD2 genotype with outcomes in allogeneic blood and marrow transplant patients.


[PMID 21756849] The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies.


[PMID 22531667] PM10-induced hospital admissions for asthma and chronic obstructive pulmonary disease: the modifying effect of individual characteristics.


[PMID 22564066] Heterocyclic Aromatic Amine [HCA] Intake and Prostate Cancer Risk: Effect Modification by Genetic Variants.


[PMID 22574884] Genetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants.


[PMID 22661588OA-icon.png] Antioxidant enzyme polymorphisms and neuropsychological outcomes in medulloblastoma survivors: a report from the Childhood Cancer Survivor Study.


[PMID 22615781OA-icon.png] Candidate gene-based association study of antipsychotic-induced movement disorders in long-stay psychiatric patients: a prospective study


GET Evidence
SOD2-V16A
aa_change Val16Ala
aa_change_short V16A
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.476199
summary



[PMID 23142385] Frequency of sepsis in patients with the 47C allele of SOD2 gene


[PMID 23500038] A Functional and Genetic Analysis of SOD2 Promoter Variants and their Contribution to Age-Related Hearing Loss


[PMID 23647424] Association of Mn-SOD Mutation (c.47T > C) with Various POAG Clinical Indices


[PMID 24070129] Association of SOD2 Mutation (c.47T\gtC) with Various Primary Angle Closure Glaucoma Clinical Indices


[PMID 24348785OA-icon.png] Correlation between superoxide dismutase 1 and 2 polymorphisms and susceptibility to oral squamous cell carcinoma


[PMID 24119114OA-icon.png] SOD2 gene Val16Ala polymorphism is associated with macroalbuminuria in Mexican type 2 diabetes patients: a comparative study and meta-analysis


[PMID 24499375] Association of Oxidative Stress Related Genes with Idiopathic Recurrent Miscarriage


[PMID 24552298] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis


[PMID 24586301OA-icon.png] No Association of Four Candidate Genetic Variants in MnSOD and SYNIII with Parkinson's Disease in Two Chinese Populations


[PMID 24610081] Associations Between SNPs Within Antioxidant Genes and the Risk of Prostate Cancer in the Siberian Region of Russia


[PMID 22517484] Clinical significance of SOD2 and GSTP1 gene polymorphisms in Chinese patients with gastric cancer.


[PMID 22610343OA-icon.png] Genetic variants in antioxidant genes are associated with diisocyanate-induced asthma.


[PMID 22877234OA-icon.png] Polymorphisms in genes involved in oxidative stress response in patients with sudden sensorineural hearing loss and Meniere's disease in a Japanese population.


[PMID 22958044] Genetic polymorphisms of antioxidant enzymes in preterm infants.


[PMID 22987024] Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.


[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.


[PMID 23261794] Influence of genetic polymorphisms on the association between phthalate exposure and pulmonary function in the elderly.


[PMID 24865797] SOD2 gene polymorphism and muscle damage markers in elite athletes


[PMID 24919441] Polymorphisms of NRF2 and NRF2 target genes in urinary bladder cancer patients