rs2072668

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

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Research that mentions this SNP (2)

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A parent‐of‐origin analysis of paternal genetic variants and increased risk of conotruncal heart defects
AssociationN=616Wendy N. Nembhard et al.(2018)· American Journal of Medical Genetics Part A

A family-based case-only study of 616 conotruncal heart defect cases examining paternal genetic variants in folate, homocysteine, and transsulfuration pathways. Among 921 SNPs genotyped in 60 candidate genes, three paternal variants showed statistically significant decreased risk: GLRX rs17085159 (RR=0.23), GLRX rs12109442 (RR=0.27), and GSR rs7818511 (RR=0.31). The study concludes that paternal variants in these metabolic pathways have less influence on conotruncal heart defect risk than maternal variants.

Traits studied:Conotruncal heart defectsDouble outlet right ventricleInterrupted aortic arch type BPulmonary atresia with ventricular septal defectTetralogy of FallotTransposition of the great arteriesTruncus arteriosus
PubMedDOIMetascience Observatory
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Comprehensive analyses of DNA repair pathways, smoking and bladder cancer risk in Los Angeles and Shanghai
AssociationN=1,992Roman Corral et al.(2014)· International Journal of Cancer

A case-control study of 988 bladder cancer cases and 1,004 controls from Los Angeles and Shanghai examined 632 tagSNPs in 28 DNA repair genes across four pathways. Key findings include associations between POLB rs7832529 (OR=1.5, p=0.003) and bladder cancer risk among Chinese, XPC SNPs (rs2607734, rs2279017, rs2228001) among Chinese males, and OGG1 SNPs among Chinese females. XRCC6 rs2284082 showed significant interaction with smoking (p=0.001).

Traits studied:Bladder cancer
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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