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From SNPedia

Geno Mag Summary
(C;T) 0.8x decreased risk for lung cancer among smokers; increased gastric cancer risk
(T;T) 0.7x decreased risk for lung cancer among smokers; increased gastric cancer risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2333227
1000 genomesrs2333227
GWAS Ctlgrs2333227
Max Magnitude0

rs2333227 is a SNP in the promoter region of the myeloperoxidase MPO gene; it is also known as the -463 variant. It has been implicated in Alzheimer's disease, lung cancer, gastric cancer, and lupus nephritis in SLE patients.

In connection with Alzheimer's disease (AD):

  • A study of 127 Finnish patients concluded that the rs2333227(T) allele increased the risk of Alzheimer's disease by 3.8 fold. This was derived by noting that a man with an ApoE allele has an AD odds ratio of 3.0 if they don't also have an rs2333227(T) allele, and an odds ratio of 11.4 if they do.[PMID 11087769]
  • A study of 148 Italian sporadic AD patients yielded an odds ratio for the rs2333227(C;C) genotype (as oriented in dbSNP orientation) of 1.78 (CI: 1.13-2.80). The presence of rs669(G;G), in addition to rs2333227(C;C), appears to synergistically increase the risk of AD to an odds ratio of 25.5 (CI: 4.65-139.75), regardless of ApoE status.[PMID 15023809]

In connection with lung cancer:

  • A pooled analysis of data from 10 studies (3688 cases) found an odds ratio for lung cancer of 0.88 (CI: 0.80-0.97) for rs2333227(C;T) heterozygotes, and 0.71 (CI: 0.57-0.88) for (T;T) homozygotes. This protective effect applied to both men and women, and appeared to apply to "ever" smokers but not "never" smokers.[PMID 17304047]

In connection with lupus nephritis:

  • While there was no association with lupus (SLE) per se in this study of 200+ African-American patients, the risk of developing lupus nephritis among SLE patients was significantly higher among rs2333227(C;T) heterozygotes compared with (C;C) homozygotes (odds ratio 2.11, CI: 1.12-3.97), and it was even higher for (T;T) homozygotes versus (C;C) (odds ratio 3.52, CI: 1.41-8.77).[PMID 17896805OA-icon.png]

In connection with gastric cancer:

  • rs2333227(T) carriers are at increased risk for gastric cancer, based on a study of 157 Taiwanese patients. If they are also H. pylori-infected, they have a 7.9x increased risk of gastric cancer, either intestinal or diffuse types.[PMID 18505072]

[PMID 20663217OA-icon.png] Genetic Polymorphisms of CYP2E1, GSTP1, NQO1 and MPO and the Risk of Nasopharyngeal Carcinoma in a Han Chinese Population of Southern China

[PMID 21795425OA-icon.png] Genetic Variation in Myeloperoxidase Modifies the Association of Serum {alpha}-Tocopherol with Aggressive Prostate Cancer among Current Smokers

[PMID 22427832OA-icon.png] Menopausal Status Modifies Breast Cancer Risk Associated with the Myeloperoxidase (MPO) G463A Polymorphism in Caucasian Women: A Meta-Analysis

[PMID 15576619OA-icon.png] Hematotoxicity in workers exposed to low levels of benzene.

[PMID 16385446OA-icon.png] A testing framework for identifying susceptibility genes in the presence of epistasis.

[PMID 17885617] Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.

[PMID 18214807] Association of the NQO1, MPO, and XRCC1 polymorphisms and chromosome damage among workers at a petroleum refinery.

[PMID 18296681OA-icon.png] Iron intake, oxidative stress-related genes (MnSOD and MPO) and prostate cancer risk in CARET cohort.

[PMID 18340529OA-icon.png] A prospective study of genetic polymorphism in MPO, antioxidant status, and breast cancer risk.

[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 19438866OA-icon.png] Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk.

[PMID 19479063OA-icon.png] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

[PMID 20445800OA-icon.png] Genetic Polymorphisms in Genes Related to Oxidative Stress (GSTP1, GSTM1, GSTT1, CAT, MnSOD, MPO, eNOS) and Survival of Rectal Cancer Patients after Radiotherapy.

[PMID 21950958] Plasma myeloperoxidase level and peripheral arterial disease.

[PMID 23167629] Common genetic variants in the myeloperoxidase and paraoxonase genes and the related cancer risk: a review

[PMID 24567965] Haptoglobin and myeloperoxidase (- G463A) gene polymorphisms in Brazilian sickle cell patients with and without secondary iron overload

[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 26431910] Gender-specific protective effect of the -463G>A polymorphism of myeloperoxidase gene against the risk of essential hypertension in Russians

[PMID 27197583] Involvement of myeloperoxidase gene polymorphism 463G>A in development of cervical squamous cell carcinoma.

[PMID 29540402OA-icon.png] MPO promoter polymorphism rs2333227 enhances malignant phenotypes of colorectal cancer by altering the binding affinity of AP-2α.

[PMID 33228505] Genetic Variants rs1049255 CYBA and rs2333227 MPO are Associated with Susceptibility to Coronary Artery Disease in Russian Residents of Central Russia.