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rs1052133

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;G) 2.1 normal for bladder cancer risk; 1.9x increased risk for gallbladder cancer
(G;G) 2.2 2x increased bladder cancer risk; 4.5x increased risk for gallbladder cancer
ReferenceGRCh38 38.1/141
Chromosome3
Position9757089
GeneCAMK1, OGG1
is asnp
is mentioned by
dbSNPrs1052133
ebirs1052133
HLIrs1052133
Exacrs1052133
Varsomers1052133
Maprs1052133
PheGenIrs1052133
hapmaprs1052133
1000 genomesrs1052133
hgdprs1052133
ensemblrs1052133
gopubmedrs1052133
geneviewrs1052133
scholarrs1052133
googlers1052133
pharmgkbrs1052133
gwascentralrs1052133
openSNPrs1052133
23andMers1052133
23andMe allrs1052133
SNP Nexus

SNPshotrs1052133
SNPdbers1052133
MSV3drs1052133
GWAS Ctlgrs1052133
GMAF0.2984
Max Magnitude2.2
? (C;C) (C;G) (G;G) 28
rs1052133, also known as Ser326Cys, is a SNP in the oxoguanine glycosylase 1 OGG1 gene, involved in the repair of DNA damage (for example, damage caused by tobacco smoke). The minor (rarer) allele, encoding the cysteine (Cys), is rs1052133(G). Note that associations reported for this SNP are not always replicating in different studies or populations.

A study of 250 Japanese patients with bladder cancer found an adjusted odds ratio of 2.05 (CI: 1.36-3.08; p = 0.01) for (G;G) homozygotes compared to the other genotypes. In addition, if evaluated only in non-smokers, the adjusted odds ratio increased to 2.78 (CI: 1.39-5.60; p < 0.01).[PMID 18272472]

A study of 200 Chinese patients with gallbladder cancer concluded that increased risk was associated with both the (C;G) genotype (odds ratio 1.9, (CI: = 1.0-3.7) and the (G;G) genotype (odds ratio 4.5, CI: 1.1-22.4).[PMID 17417784]

A study of 300 lung cancer patients of various ethnicities found that the (G;G) genotype was associated with an odds ratio of 2.1 (CI: 1.2-3.7), regardless of sex or ethnicity.[PMID 11927502] However, a Danish study of 400 lung cancer patients found no association.[PMID 17015267]


[PMID 19266243] Single-Nucleotide Polymorphisms of DNA Repair Genes OGG1 and XRCC1: Association with Gallbladder Cancer in North Indian Population


[PMID 19561388] Common Polymorphisms in the XPD and hOGG1 Genes Are Not Associated with the Risk of Colorectal Cancer in a Polish Population


[PMID 19815090] The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use


[PMID 20069464] OGG1 Ser326Cys Polymorphism and Susceptibility to Esophageal Cancer in Low and High At-Risk Populations of Northern India


[PMID 20571908] MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study


[PMID 20606456OA-icon.png] The Ser(326)Cys Polymorphism of 8-Oxoguanine Glycosylase 1 (OGG1) Is Associated with Type 2 Diabetes in Mexican Americans


[PMID 21283657OA-icon.png] Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes


Venter snp
Source plos
Gene OGG1
allele G
frequency
sift TOLERATED
HuRef 1103656021650
Disease Association Defects in OGG1 are a cause of renal cell carcinoma (RCC1) (MIM:144700).



[PMID 21622940OA-icon.png] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study


[PMID 21727658OA-icon.png] Protective association exhibited by the single nucleotide polymorphism (SNP) rs1052133 in the gene human 8-oxoguanine DNA glycosylase (hOGG1) with the risk of squamous cell carcinomas of the head & neck (SCCHN) among north Indians


[PMID 21915362OA-icon.png] Sequence variants in antioxidant defense and DNA repair genes, dietary antioxidants, and pancreatic cancer risk


[PMID 21914193OA-icon.png] The hOGG1 Ser326Cys Polymorphism and Prostate Cancer Risk: A Meta-Analysis of 2584 cases and 3234 controls


[PMID 21129811] Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer


[PMID 21338322] Parameters of oxidative stress, DNA damage and DNA repair in type 1 and type 2 diabetes mellitus


[PMID 22540013OA-icon.png] The Association between OGG1 Ser326Cys Polymorphism and Lung Cancer Susceptibility: A Meta-Analysis of 27 Studies


[PMID 22659345] Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival


[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.


[PMID 17220334] High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.


[PMID 17984110] Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18544627OA-icon.png] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18569589] Rapid detection of the hOGG1 Ser326Cys polymorphism using LightCycler technology.


[PMID 18823566OA-icon.png] Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.


[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.


[PMID 19029194OA-icon.png] Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.


[PMID 19098027OA-icon.png] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.


[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.


[PMID 19318434OA-icon.png] Associations between polymorphisms in DNA repair genes and glioblastoma.


[PMID 19443904OA-icon.png] Catalytically impaired hMYH and NEIL1 mutant proteins identified in patients with primary sclerosing cholangitis and cholangiocarcinoma.


[PMID 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.


[PMID 19674107OA-icon.png] Substrate specificity and excision kinetics of natural polymorphic variants and phosphomimetic mutants of human 8-oxoguanine-DNA glycosylase.


[PMID 19881468] hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type.


[PMID 20564624] Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India.


[PMID 20577654OA-icon.png] XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium.


[PMID 21166493] hOGG1 Ser326Cys polymorphism and renal cell carcinoma risk in a Chinese population.


[PMID 21183201] DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India.


[PMID 21195504] Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.


[PMID 21401806] hOGG1 Ser326Cys polymorphism and risk of childhood acute lymphoblastic leukemia in a Chinese population.


[PMID 21561390] Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.


[PMID 21695387] Association of OGG1 Ser326Cys polymorphism with colorectal cancer risk: a meta-analysis.


[PMID 21708280OA-icon.png] Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.


[PMID 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.


[PMID 21974800] DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.


[PMID 22469746] Association between polymorphisms of the DNA base excision repair genes MUTYH and hOGG1 and age-related macular degeneration.


[PMID 22687647] Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.


[PMID 22720119OA-icon.png] Association of base excision repair gene polymorphisms with ESRD risk in a Chinese population


[PMID 23079842] Meta-analysis demonstrates lack of association of the hOGG1 Ser326Cys polymorphism with bladder cancer risk


GET Evidence
OGG1-S326C
aa_change Ser326Cys
aa_change_short S326C
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



[PMID 22850545OA-icon.png] Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese


[PMID 24022861] An NEIL1 single nucleotide polymorphism (rs4462560) predicts the risk of radiation-induced toxicities in esophageal cancer patients treated with definitive radiotherapy


[PMID 24499375] Association of Oxidative Stress Related Genes with Idiopathic Recurrent Miscarriage


[PMID 24500421OA-icon.png] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis


[PMID 22466227] Genotoxic effects of occupational exposure to lead and influence of polymorphisms in genes involved in lead toxicokinetics and in DNA repair.


[PMID 24036326] Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal


[PMID 23959014] DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia


[PMID 25703835] Genetic variants in the DNA repair gene NEIL3 and the risk of myocardial infarction in a nested case-control study. The HUNT Study


[PMID 25907663] hOGG1 C1245G gene polymorphism associated with prostate cancer: a meta-analysis


[PMID 26074017] Association between single nucleotide polymorphisms of MUTYH, hOGG1 and NEIL1 genes, and depression


[PMID 26159902] DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival


[PMID 26400813] DNA Base-Excision Repair Genes OGG1 and NTH1 in Brazilian Lung Cancer Patients


[PMID 26585352] Associations between circulating carotenoids, genomic instability and the risk of high-grade prostate cancer


[PMID 26634519] XRCC1 rs25487 polymorphism is associated with lung cancer risk in epidemiologically susceptible Chinese people.


[PMID 27603140] The association analysis of hOGG1 genetic variants and gastric cancer risk in a Chinese population.


[PMID 27822728] The hOGG1 Ser326Cys Gene Polymorphism and Breast Cancer Risk in Saudi Population.