{{Rsnum
|rsid=1800566
|Gene=NQO1
|Chromosome=16
|position=69711242
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.2769
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=NQO1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 65.5 | 31.9 | 2.7
| HCB | 28.5 | 54.7 | 16.8
| JPT | 37.2 | 51.3 | 11.5
| YRI | 68.5 | 28.1 | 3.4
| ASW | 63.2 | 31.6 | 5.3
| CHB | 28.5 | 54.7 | 16.8
| CHD | 27.5 | 49.5 | 22.9
| GIH | 39.6 | 41.6 | 18.8
| LWK | 64.5 | 34.5 | 0.9
| MEX | 44.8 | 39.7 | 15.5
| MKK | 69.2 | 26.3 | 4.5
| TSI | 58.8 | 35.3 | 5.9
| HapMapRevision=28
}}
[[rs1800566]] (C609T, Pro187Ser) is a snp within NQO1 (NAD(P)H dehydrogenase (quinone 1)). A Ser (T) at this location denotes the NQO1*2 allele.

{{Report GE
|PubMed=15498787
|Source=16051642
|AffyProbeset=SNP_A-2252005
|AffyOrientation=same
|AlleleA=C
|AlleleB=T
|onGW5=1
|rsid=1800566
|ancestral=C
|RiskPopulation=
|RiskAllele=T
|CaseFreq=
|ControlFreq=
|OddsRatioHet=0.48
|OddsRatioHom=
|OddsRatioAll=
|Disease=Lung cancer
|DiseaseSymbol=LC
}}

influences the risk of [[breast cancer]] according to the [[23andMe]] blog [http://blog.23andme.com/2008/06/01/snpwatch-gene-variant-may-be-a-strong-predictive-factor-in-breast-cancer-treatment-and-survival/ 23andMe blog] 

rs1800566 increases susceptibility to [[Lung cancer]] 0.48 times for heterozygotes (CT) {{PMID|15498787}}

{{omim
|id=125860
|desc=NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1
|rsnum=1800566
}}
{{PMID Auto
|PMID=19778569
|Title=Oxidative stress in tardive dyskinesia: Genetic association study and meta-analysis of NADPH quinine oxidoreductase 1 (NQO1) and Superoxide dismutase 2 (SOD2, MnSOD) genes
}}
{{PMID Auto
|PMID=20331656
|Title=Fetal Genotype for the Xenobiotic Metabolizing Enzyme NQO1 Influences Intrauterine Growth Among Infants Whose Mothers Smoked During Pregnancy
}}

{{PharmGKB
|RSID=rs1800566
|Name_s=NQO1*2; rs1800566 C>T
|Gene_s=NQO1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18457324
|Annotation=Risk or phenotype-associated allele: C/T. Phenotype: There was no association between the NQO1*2 polymorphism and the risk of anthracycline-related CHF. Study size: 145. Study population/ethnicity: Nested case-control study was conducted within a cohort of 1979 patients enrolled in the Childhood Cancer Survivor Study who received treatment with anthracyclines and had available DNA. Significance metric(s): OR = 1.04; p = 0.97. Type of association: CO; TOX; ADR.
|Drugs=
|Drug Classes=ANTHRACYCLINES AND RELATED SUBSTANCES
|Diseases=Cardiomyopathies; Drug Toxicity; Heart Failure
|Curation Level=Curated
|PharmGKB Accession ID=PA165291868
}}

{{PMID Auto
|PMID=20110814
|Title=Air pollution and homocysteine: more evidence that oxidative stress-related genes modify effects of particulate air pollution
|OA=1
}}
{{PMID Auto
|PMID=20391128
|Title=Detection of quinone oxidoreductase 1 (NQO1) single-nucleotide polymorphisms (SNP) related to benzene metabolism in immortalized B lymphocytes from a Chinese Han population
}}
{{PMID Auto
|PMID=20663217
|Title=Genetic Polymorphisms of CYP2E1, GSTP1, NQO1 and MPO and the Risk of Nasopharyngeal Carcinoma in a Han Chinese Population of Southern China
|OA=1
}}

{{PharmGKB
|RSID=rs1800566
|Name_s=NQO1:C609T; NQO1:P187S; NQO1*2(T allele)
|Gene_s=NQO1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:15047100; PubMed ID:15967214; PubMed ID:16038261; PubMed ID:16879717; PubMed ID:17023046; PubMed ID:17027152; PubMed ID:17188257; PubMed ID:18024413
|Annotation=Homozygous T abolishes enzymatic activity. Susceptibility to Benzene toxicity associated with the T allele, especially when combined with smoking/alcohol;T allele probably associated with susceptibility to ALL; T allele associated with t-AML and t-MDS;possibly related to H. pylori-related gastric cancer;has been investigated in other cancers, diabetes, Alzheimer's Disease and Parkinson Disease with varying results.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145100
}}

{{PharmGKB
|RSID=rs1800566
|Name_s=NQO1*2
|Gene_s=NQO1
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/nqo1/variant.jsp
|Annotation=This variant causes the NQO1 protein to be rapidly degraded. Also, the NQO1*2 variant is in the active site of NQO1, leading to decreased NQO1 activity.
|Drugs=1-methyloxy-4-sulfone-benzene; cisplatin; dicumarol; doxorubicin
|Drug Classes=
|Diseases=
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161845840
}}

{{PharmGKB
|RSID=rs1800566
|Name_s=NQO1:c.558C>T; NQO1(*)2
|Gene_s=NQO1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18511948
|Annotation=This homozygous variant predicts poor survival among two independent series of women with breast cancer. This effect is particularly evident after anthracycline-based adjuvant chemotherapy with epirubicin and in p53-aberrant tumors.
|Drugs=epirubicin
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA161925571
}}
{{PMID Auto
|PMID=21133623
|Title=No Association of NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T Polymorphism and Risk of Hepatocellular Carcinoma Development in Turkish Subjects
}}

{{omim
|id=125860
|rsnum=1800566
|variant=0001
}}

{{PMID Auto
|PMID=22215148
|Title=Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a meta-analysis
}}

{{PMID Auto
|PMID=22272361
|Title=A Functional NQO1 609C&gt;T Polymorphism and Risk of Gastrointestinal Cancers: A Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=21351093
|Title=Association of superoxide dismutases and NAD(P)H quinone oxidoreductases with prognosis of patients with breast carcinomas
}}

{{PMID Auto
|PMID=22573488
|Title=EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients
}}

{{PMID Auto
|PMID=22016051
|Title=Leads from xenobiotic metabolism genes for Parkinson's disease among north Indians
}}

{{ClinVar
|rsid=1800566
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=69745145
|CHROM=16
|GMAF=0.2766
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05037800000017051f110100
|GENEINFO=NQO1:1728
|GENE_NAME=NQO1
|GENE_ID=1728
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000016.9:g.69745145G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSIG=255
|CLNCUI=C0220754
|CLNDBN=Benzene toxicity, susceptibility to; Leukemia, post-chemotherapy, susceptibility to; Breast cancer, post-chemotherapy poor survival in
|Disease=Benzene toxicity; Leukemia; Breast cancer
|CLNACC=RCV000018300.1; RCV000018301.1; RCV000018302.22
|Tags=RV;PM;TPA;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7231; 0.2769
|CLNDSDB=MedGen
|CLNDSDBID=C2675719
|CLNSRCID=125860.0001
|COMMON=1
}}

{{PMID Auto
|PMID=15576619
|Title=Hematotoxicity in workers exposed to low levels of benzene.
|OA=1
}}

{{PMID Auto
|PMID=16026601
|Title=Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
|OA=1
}}

{{PMID Auto
|PMID=16385446
|Title=A testing framework for identifying susceptibility genes in the presence of epistasis.
|OA=1
}}

{{PMID Auto
|PMID=17160896
|Title=Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
|OA=1
}}

{{PMID Auto
|PMID=17366837
|Title=Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.
|OA=1
}}

{{PMID Auto
|PMID=17424838
|Title=[Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].
}}

{{PMID Auto
|PMID=17697348
|Title=Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
|OA=1
}}

{{PMID Auto
|PMID=17885617
|Title=Genetic polymorphisms and benzene metabolism in humans exposed to a wide range of air concentrations.
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18214807
|Title=Association of the NQO1, MPO, and XRCC1 polymorphisms and chromosome damage among workers at a petroleum refinery.
}}

{{PMID Auto
|PMID=18535201
|Title=A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18632753
|Title=Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
|OA=1
}}

{{PMID Auto
|PMID=18854777
|Title=Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18922824
|Title=Genetic susceptibility to childhood leukaemia.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=18992148
|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
|OA=1
}}

{{PMID Auto
|PMID=19174490
|Title=Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.
|OA=1
}}

{{PMID Auto
|PMID=19494791
|Title=NAD(P)H:quinone oxidoreductase 1 Pro187Ser polymorphism and expression do not cosegregate with clinico-pathological characteristics of human mammary tumors.
}}

{{PMID Auto
|PMID=19822020
|Title=Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20049130
|Title=Black carbon exposure, oxidative stress genes, and blood pressure in a repeated-measures study.
|OA=1
}}

{{PMID Auto
|PMID=20049212
|Title=Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).
|OA=1
}}

{{PMID Auto
|PMID=20091863
|Title=Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer.
}}

{{PMID Auto
|PMID=20966810
|Title=Superoxide dismutase and nicotinamide adenine dinucleotide phosphate: quinone oxidoreductase polymorphisms and pancreatic cancer risk.
}}

{{PMID Auto
|PMID=21034357
|Title=DCPIP (2,6-dichlorophenolindophenol) as a genotype-directed redox chemotherapeutic targeting NQO1*2 breast carcinoma.
}}

{{PMID Auto
|PMID=21706157
|Title=NQO1 expression correlates inversely with NFkappaB activation in human breast cancer.
}}

{{PMID Auto
|PMID=21946896
|Title=Two minor NQO1 and NQO2 alleles predict poor response of breast cancer patients to adjuvant doxorubicin and cyclophosphamide therapy.
}}

{{PMID Auto
|PMID=22200898
|Title=Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).
}}

{{PMID Auto
|PMID=22976839
|Title=NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the risk of childhood acute leukemias according to age range distribution
}}

{{GET Evidence
|gene=NQO1
|aa_change=Pro187Ser
|aa_change_short=P187S
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800566
|overall_frequency_n=2121
|overall_frequency_d=10758
|overall_frequency=0.197156
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=25
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.215
|nblosum100=3
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23276910
|Title=Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD
}}

{{PMID Auto
|PMID=23534750
|Title=Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection
}}

{{PMID Auto
|PMID=23651475
|Title=Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study
|OA=1
}}

{{PMID Auto
|PMID=24354914
|Title=NQO1 rs1800566 C&gt;T polymorphism was associated with a decreased risk of esophageal cancer in a Chinese population
}}

{{PMID Auto
|PMID=24571676
|Title=RAS mutations in early age leukaemia modulated by NQO1 rs1800566 (C609T) are associated with second-hand smoking exposures
|OA=1
}}

{{PMID Auto
|PMID=22972504
|Title=A functional NQO1 609C>T polymorphism and risk of hepatocellular carcinoma in a Chinese population.
}}

{{PMID Auto
|PMID=22987024
|Title=Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.
}}

{{PMID Auto
|PMID=23054000
|Title=Genetic variants in metabolizing genes NQO1, NQO2, MTHFR and risk of prostate cancer: a study from North India.
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=24755231
|Title=NQO1 gene rs1800566 variant is not associated with risk for multiple sclerosis
|OA=1
}}

{{PMID Auto
|PMID=24830960
|Title=Genetic polymorphism 609C&gt;T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer
}}

{{PMID Auto
|PMID=25054016
|Title=Association of NQO1 and TNF polymorphisms with Parkinson's disease: A meta-analysis of 15 genetic association studies
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Affy500k}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}