rs113561019
This variant is located in the OGG1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Associations of Lys939Gln and Ala499Val polymorphisms of theXPCgene with cancer susceptibility: A meta-analysisReviewJing He et al.(2013)· International Journal of Cancer
This review examines the role of oxidative DNA damage and its repair via base excision repair (BER) glycosylases (hOGG1, MUTYH, NEIL1-3, NTH1) in sporadic colorectal cancer (CRC) pathogenesis, prognosis, and treatment. The authors discuss hereditary syndromes (MUTYH-associated polyposis, NTHL1-associated tumor syndrome) that provide direct evidence linking oxidative DNA damage to CRC, and review conflicting evidence on common variants such as hOGG1 Ser326Cys and MUTYH polymorphisms in sporadic CRC risk. They also address the contribution of intestinal dysbiosis to oxidative damage and potential therapeutic strategies targeting DNA repair pathways.
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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