rs2304277
This variant is located in the OGG1 gene.
▶Research that mentions this SNP (3)
▶A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriersAssociationN=344Juan Miguel Baquero et al.(2019)· Molecular Oncology
This study validated that SNP rs34259 in the UNG gene (3' UTR) decreases ovarian cancer risk in BRCA2 mutation carriers (HR: 0.80, 95% CI: 0.69-0.94, P = 7.6×10⁻³), and demonstrated the molecular mechanism through reduced UNG expression and activity. The variant is associated with lower UNG mRNA/protein levels, decreased uracil accumulation at telomeres, lower oxidative DNA damage, reduced oxidative stress susceptibility, and shorter telomeres in BRCA2 carriers, all contributing to the protective effect against cancer.
▶Selenoprotein and antioxidant genes and the risk of high-grade prostate cancer and prostate cancer recurrenceAssociationN=568John P. Gerstenberger et al.(2015)· The Prostate
This candidate gene study examined 73 SNPs in 10 selenoprotein and antioxidant genes among 568 men with non-metastatic prostate cancer treated with radical prostatectomy. Plasma selenium was not associated with high-grade prostate cancer or recurrence. Less common alleles of rs11913319 (TXNRD2, OR=2.01) and rs125701 (OGG1, OR=1.72) were associated with increased risk of high-grade prostate cancer. Multiple SNPs in TXNRD1, TXNRD2, GPX3, and SEP15 showed associations with prostate cancer recurrence, though none remained significant after Bonferroni correction.
▶Genetic variation in the base excision repair pathway and bladder cancer riskAssociationN=2,299Jonine D. Figueroa et al.(2007)· Human Genetics
Case-control study of 1,150 bladder cancer cases and 1,149 controls analyzing 43 SNPs in 12 base excision repair (BER) genes. Significant associations with bladder cancer risk were found for OGG1 rs125701 (OR=0.78, 95% CI 0.63-0.96, decreased risk), PARP1 rs1136410/V762A (OR=1.24, 95% CI 1.02-1.51, increased risk), and POLB rs3136717 (OR=1.30, 95% CI 1.04-1.62, increased risk). Meta-analysis of XRCC1 rs25487 (Q399R) across 7 studies showed no overall association with bladder cancer risk.
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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