rs1052133

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

ClinVar annotation

Benign
1 submitter

OGG1-related disorder

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Research that mentions this SNP (11)

Associations between circulating carotenoids, genomic instability and the risk of high-grade prostate cancer
AssociationN=559Tobias Nordström et al.(2016)· The Prostate

A study of 559 men with prostate cancer examined associations between circulating carotenoid levels and high-grade prostate cancer risk, finding that higher carotenoid levels (α-carotene OR=0.34, β-carotene OR=0.31, lycopene OR=0.55) were inversely associated with high-grade disease. SNPs in XRCC1 (rs25489), SOD3 (rs699473), and OGG1 (rs1052133) modified these associations, and lycopene levels were associated with lower genomic instability in low-grade tumors.

Traits studied:Genomic instability (Fraction of Genome Altered)Gleason grade ≥4+3High-grade prostate cancer
Selenoprotein and antioxidant genes and the risk of high-grade prostate cancer and prostate cancer recurrence
AssociationN=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.

Traits studied:High-grade prostate cancerProstate cancer recurrence
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
Associations of Lys939Gln and Ala499Val polymorphisms of theXPCgene with cancer susceptibility: A meta-analysis
ReviewJing 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.

Traits studied:Colon cancerColorectal cancerMUTYH-associated polyposisNTHL1-associated tumor syndromeRectal cancer
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)
Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans
AssociationN=6,779Lyna Zhang et al.(2012)· Hepatology

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

Traits studied:Anti-HAV seropositivityHepatitis A virus (HAV) infection
Association of OGG1 Ser326Cys polymorphism with colorectal cancer risk: a meta-analysis
Meta-analysisN=10,727Ying Zhang et al.(2011)· International Journal of Colorectal Disease

This meta-analysis of 12 case-control studies (4,233 cases, 6,494 controls) evaluated the association between OGG1 Ser326Cys polymorphism (rs1052133) and colorectal cancer risk. No significant associations were found across any genetic model: Cys/Cys vs Ser/Ser (OR=1.19, 95% CI 0.92-1.53), Ser/Cys vs Ser/Ser (OR=1.04, 95% CI 0.95-1.13), or dominant model Ser/Cys+Cys/Cys vs Ser/Ser (OR=1.06, 95% CI 0.98-1.16). Stratified analyses by ethnicity and control source also revealed no increased risk.

Traits studied:Colorectal cancer
Polymorphisms in oxidative stress‐related genes and postmenopausal breast cancer risk
AssociationN=2,409Petra Seibold et al.(2011)· International Journal of Cancer

Two-stage case-control study in Spanish population examining 76 polymorphisms in 27 oxidative stress-related genes for breast cancer susceptibility. Six SNPs (rs1052133 in OGG1, rs406113 and rs974334 in GPX6, rs2284659 in SOD3, rs4135225 in TXN, rs207454 in XDH) were significantly associated with breast cancer risk. A four-variant interaction (rs406113, rs974334, rs1052133, rs2284659) showed increased risk with OR = 1.75 [95% CI: 1.26-2.44], p-value = 0.0008.

Traits studied:Breast cancer
Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India
Meta-analysisKshitij Srivastava et al.(2010)· Cancer

Meta-analysis of 152 case-control studies investigating the OGG1 Ser326Cys polymorphism (rs1052133) and cancer risk. Overall results showed significant associations across multiple genetic models (dominant: OR=1.053, P=0.018; recessive: OR=1.108, P<0.001; homozygote: OR=1.135, P<0.001; additive: OR=1.059, P<0.001). However, subgroup analyses by cancer type, sample size, and source of controls yielded inconsistent results, with only leukemia showing a significant association. The authors concluded that the overall evidence does not reliably support OGG1 Ser326Cys as a risk factor for cancer.

Traits studied:Bladder cancerBreast cancerCancerColorectal cancerGastric cancerHead and neck cancerHepatocellular carcinomaLeukemiaLung cancerOvarian cancerProstate cancer
hOGG1 Ser326Cys polymorphism and susceptibility to gallbladder cancer in a Chinese population
Meta-analysisN=3,166Jiao X. et al.(2007)· International Journal of Cancer

This meta-analysis of 7 case-control studies (1,546 HCC cases, 1,620 controls) in East Asian populations found that the hOGG1 Ser326Cys polymorphism (rs1052133) is a significant risk factor for hepatocellular carcinoma (HCC) in Chinese populations (homozygous model: OR=1.99, 95% CI=1.44-2.75; recessive model: OR=1.42, 95% CI=1.08-1.87), but no significant associations were observed in overall East Asian analysis after excluding studies deviating from Hardy-Weinberg equilibrium.

Traits studied:Hepatocellular carcinoma
Genetic variation in the base excision repair pathway and bladder cancer risk
AssociationN=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.

Traits studied:Bladder cancerUrinary bladder transitional cell carcinoma

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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