rs2234694

This is a regulatory region variant variant in the SOD1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.01
p 9.0e-9
N 180,094
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not specified

View on ClinVar →
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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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Genetic polymorphisms in oxidative stress‐related genes are associated with outcomes following treatment for aggressive B‐cell non‐Hodgkin lymphoma
AssociationN=909Heather L. Gustafson et al.(2014)· American Journal of Hematology

Genetic polymorphisms in oxidative stress-related genes were associated with treatment outcomes in aggressive B-cell non-Hodgkin lymphoma. In discovery (n=337) and validation (n=572) cohorts, rare homozygotes for MPO rs2243828 (HR=1.87, P=0.013) and AKR1C3 rs10508293 (HR=2.09, P=0.0032) were associated with increased risk of progression, while NCF4 rs1883112 rare homozygotes showed protective effects against progression (HR=0.66, P=0.06 discovery; HR=0.66, P=0.05 validation). Meta-analysis confirmed NCF4 association with improved survival outcomes (HR=0.66, P<0.01).

Traits studied:Aggressive B-cell non-Hodgkin lymphomaDiffuse large B-cell lymphoma (DLBCL)Hematologic toxicityOverall survivalProgression-free survival
PubMedDOIMetascience Observatory

About SOD1

The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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