rs159153

This is a upstream gene variant variant in the OGG1 gene.

Research that mentions this SNP (1)

Association of the C-285T and A5954G polymorphisms in the DNA repair gene OGG1 with the susceptibility of rheumatoid arthritis
AssociationN=384Shih-Yin Chen et al.(2012)· Rheumatology International

Case-control study of 384 Taiwanese subjects investigating association of OGG1 gene polymorphisms (rs159153 C-285T and rs3219008 A5954G) with rheumatoid arthritis susceptibility. rs3219008 showed significant association with RA (P=5.6E-05), with AG genotype conferring higher RA risk. AA genotype at rs3219008 was associated with increased bone erosion (P=0.008).

Traits studied:Bone erosion in rheumatoid arthritisRheumatoid arthritis

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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