rs1050450
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1 | Increased risk of damage caused by oxidative stress in many diseases |
| (T;T) | 1 | increased risk of damage caused by oxidative stress in many diseases |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 49357401 |
| Gene | GPX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1050450 |
| dbSNP (classic) | rs1050450 |
| ClinGen | rs1050450 |
| ebi | rs1050450 |
| HLI | rs1050450 |
| Exac | rs1050450 |
| Gnomad | rs1050450 |
| Varsome | rs1050450 |
| LitVar | rs1050450 |
| Map | rs1050450 |
| PheGenI | rs1050450 |
| Biobank | rs1050450 |
| 1000 genomes | rs1050450 |
| hgdp | rs1050450 |
| ensembl | rs1050450 |
| geneview | rs1050450 |
| scholar | rs1050450 |
| rs1050450 | |
| pharmgkb | rs1050450 |
| gwascentral | rs1050450 |
| openSNP | rs1050450 |
| 23andMe | rs1050450 |
| SNPshot | rs1050450 |
| SNPdbe | rs1050450 |
| MSV3d | rs1050450 |
| GWAS Ctlg | rs1050450 |
| GMAF | 0.2493 |
| Max Magnitude | 1 |
[PMID 24058403
] Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population. Published 2013. this article discussed the SNP risk for osteoarthritis in a selenium-deficient region, following up on the 2010 study also cited here. "Kashin-Beck disease (KBD) is a kind of degenerative osteoarthropathy." It found that "Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed a significant association with KBD and controls with P value of 0.0421, 5.0E-4 and 0.0066, respectively." (Abstract)
[PMID 20178852] Association Study between Polymorphisms in Selenoprotein Genes and Susceptibility to Kashin-Beck Disease. Published 2010, this article discussed the SNP risk for osteoarthritis in a selenium-deficient region. "Kashin-Beck disease (KBD) is a disabling osteoarthropathy involving growth cartilage endemic to selenium (Se)-deficient regions in China." "Four polymorphisms including GPX1 (rs1050450), TrxR2 (rs5748469), SEPP1 (rs7579) and DIO2 (rs225014) were analyzed for 161 KBD patients and 312 controls." However, Only GPX1 (rs1050450) polymorphisms that were heterozygote proline/leucine or homozygote leucene/leucene conferred a risk compared with the other variant: "odds ratio=1.781; 95% confidence interval: 1.127-2.814." "No association was observed between the other three single nucleotide polymorphisms (SNPs) and KBD risk."
[PMID 21062213] Manganese superoxide dismutase dimorphism relationship with severity and prognosis in cardiogenic shock due to dilated cardiomyopathy
[PMID 21185702] Association between the rs1050450 glutathione peroxidase-1 (C > T) gene variant and peripheral neuropathy in two independent samples of subjects with diabetes mellitus
[PMID 19505917] Lead exposure, polymorphisms in genes related to oxidative stress, and risk of adult brain tumors. Published 2009.
[PMID 21795425] Genetic Variation in Myeloperoxidase Modifies the Association of Serum {alpha}-Tocopherol with Aggressive Prostate Cancer among Current Smokers
| ClinVar | |
|---|---|
| Risk | Rs1050450(T;T) |
| Alt | Rs1050450(T;T) |
| Reference | Rs1050450(C;C) |
| Significance | Non-pathogenic |
| Disease | GLUTATHIONE PEROXIDASE POLYMORPHISM |
| Variation | info |
| Gene | GPX1 |
| CLNDBN | GLUTATHIONE PEROXIDASE POLYMORPHISM |
| Reversed | 1 |
| HGVS | NC_000003.11:g.49394834G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017462.2, |
[PMID 16797832] GPX1 Pro198Leu polymorphism, interactions with smoking and alcohol consumption, and risk for lung cancer.
[PMID 16945136] Gene x Gene interaction between MnSOD and GPX-1 and breast cancer risk: a nested case-control study.
[PMID 17825092] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.
[PMID 18298806] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18340529] A prospective study of genetic polymorphism in MPO, antioxidant status, and breast cancer risk.
[PMID 18682580] Oxidative response gene polymorphisms and risk of adult brain tumors.
[PMID 19428448] The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old.
[PMID 19946932] Lack of association of GPX1 and MnSOD genes with symptom severity and response to clozapine treatment in schizophrenia subjects.
[PMID 20003265] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
[PMID 20444272] Gene polymorphisms against DNA damage induced by hydrogen peroxide in leukocytes of healthy humans through comet assay: a quasi-experimental study.
[PMID 20852007] Effects of selenium status and polymorphisms in selenoprotein genes on prostate cancer risk in a prospective study of European men.
[PMID 21595856] Genetic polymorphisms in antioxidative enzymes are associated to forced expiratory volume in 1 s (FEV1) in smokers independently of asthma.
[PMID 21842217] GPx-1 polymorphism (rs1050450) contributes to tumor susceptibility: evidence from meta-analysis.
[PMID 22139612] Serum selenium and single-nucleotide polymorphisms in genes for selenoproteins: relationship to markers of oxidative stress in men from Auckland, New Zealand.
[PMID 22661588] Antioxidant enzyme polymorphisms and neuropsychological outcomes in medulloblastoma survivors: a report from the Childhood Cancer Survivor Study.
[PMID 23073788] GPX1 gene Pro200Leu polymorphism, erythrocyte GPX activity, and cancer risk
[PMID 23906684] Genetic associations with coronary heart disease: Meta-analyses of 12 candidate genetic variants
[PMID 23363810] Prostate disease risk factors among a New Zealand cohort
[PMID 24610081] Associations Between SNPs Within Antioxidant Genes and the Risk of Prostate Cancer in the Siberian Region of Russia
[PMID 22877234] Polymorphisms in genes involved in oxidative stress response in patients with sudden sensorineural hearing loss and Meniere's disease in a Japanese population.
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 24058403] Association study of polymorphisms in selenoprotein genes and Kashin-Beck disease and serum selenium/iodine concentration in a Tibetan population
[PMID 25009565] Association of glutathione peroxidase-1 (GPx-1) rs1050450 Pro198Leu and Pro197Leu polymorphisms with cardiovascular risk: a meta-analysis of observational studies
[PMID 25182984] [Association between GPX-1 single nucleotide polymorphisms and susceptibility to noise-induced hearing loss among Chinese Han population]
[PMID 25497738] Effect of 593C>T GPx1 SNP alone and in synergy with 47C>T SOD2 SNP on the outcome of critically ill patients
[PMID 26081749] Antioxidant-related gene polymorphisms associated with the cardio-ankle vascular index in young Russians
[PMID 24517502] Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease
[PMID 26446998] Lipid peroxidation and glutathione peroxidase activity relationship in breast cancer depends on functional polymorphism of GPX1
[PMID 27480094] Association of interactions between dietary salt consumption and hypertension-susceptibility genetic polymorphisms with blood pressure among Japanese male workers.
[PMID 27825163] Effects of GSTP1 and GPX1 Polymorphisms on the Risk of Preeclampsia in Chinese Han Women.
[PMID 28872562] GPX1 Pro198Leu polymorphism and GSTP1 Ile105Val polymorphisms are not associated with the risk of schizophrenia in the Chinese Han population.
[PMID 31905014] Investigation of Oxidative Stress-Related Candidate Genes as Risk Factors for Drug-Induced Liver Injury due to Co-Amoxiclav.
[PMID 32885455] The Impact of MnSOD and GPx1 Genotype at Different Levels of Enteral Nutrition Exposure on Oxidative Stress and Mortality: A Post-hoc Analysis from the FeDOx Trial.
