rs293795

This is a intron variant variant in the OGG1 gene.

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Research that mentions this SNP (2)

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A NEIL1 single nucleotide polymorphism (rs4462560) predicts the risk of radiation‐induced toxicities in esophageal cancer patients treated with definitive radiotherapy
AssociationN=187Yun Chen et al.(2013)· Cancer

A case-only study of 187 Chinese esophageal squamous cell carcinoma (ESCC) patients receiving definitive radiotherapy found that NEIL1 rs4462560 GC/CC genotypes were associated with significantly lower risk of grade ≥2 acute radiation-induced esophageal toxicity (RIET) (HR=0.421, p=0.017) and grade ≥2 radiation pneumonitis (RP) (HR=0.392, p=0.037) compared with GG genotype, but no association with overall survival. Five other SNPs in FEN1 and hOGG1 genes showed no significant associations.

Traits studied:Esophageal squamous cell carcinomaOverall survivalRadiation pneumonitis (RP)Radiation-induced esophageal toxicity (RIET)
PubMedDOIMetascience Observatory
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An exploratory case‐only analysis of gene‐hazardous air pollutant interactions and the risk of childhood medulloblastoma
AssociationN=98Lupo PJ et al.(2012)· Pediatric Blood & Cancer

A case-only study of 98 children with medulloblastoma/PNET examining gene-environment interactions between chlorinated solvent exposure and detoxification/DNA repair genotypes. Found 11 significant interactions; after multiple comparison correction, only the interaction between high trichloroethylene exposure and OGG1 rs293795 remained significant (OR = 9.24, 95% CI: 2.24-38.24). Two additional borderline significant interactions identified: OGG1 rs159150 with trichloroethylene (OR = 6.50) and NAT1 rs13253389 with vinyl chloride (OR = 0.05, protective).

Traits studied:Childhood CNS tumorsMedulloblastomaPrimitive neuroectodermal tumor (PNET)
PubMedDOIMetascience Observatory

About OGG1

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]

View all OGG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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