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rs1800566

From SNPedia

Known as C609T and P187S; Encodes NAD(P)H dehydrogenase (quinone 1)
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 Higher cancer risk
(T;T) 3.1 Benzene toxicity; cancer risks
ReferenceGRCh38 38.1/141
Chromosome16
Position69711242
GeneNQO1
is asnp
is mentioned by
dbSNPrs1800566
ebirs1800566
HLIrs1800566
Exacrs1800566
Varsomers1800566
Maprs1800566
PheGenIrs1800566
hapmaprs1800566
1000 genomesrs1800566
hgdprs1800566
ensemblrs1800566
gopubmedrs1800566
geneviewrs1800566
scholarrs1800566
googlers1800566
pharmgkbrs1800566
gwascentralrs1800566
openSNPrs1800566
23andMers1800566
23andMe allrs1800566
SNP Nexus

SNPshotrs1800566
SNPdbers1800566
MSV3drs1800566
GWAS Ctlgrs1800566
GMAF0.2769
Max Magnitude3.1
? (C;C) (C;T) (T;T) 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.
Rs1800566
PubMed [PMID 15498787]
Affy Probeset SNP_A-2252005
Affy Orientation same
On GW 5.0 1
Alleles A/B C/T
Ancestral C
Population
Allele T
Case Freq.
Control Freq.
Odds Ratio Het 0.48
Odds Ratio Hom
Odds Ratio All
Disease Lung cancer (LC)


influences the risk of breast cancer according to the 23andMe blog

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

OMIM125860
DescNAD(P)H DEHYDROGENASE, QUINONE 1; NQO1
Variant
Relatedalso

[PMID 19778569] 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 20331656] Fetal Genotype for the Xenobiotic Metabolizing Enzyme NQO1 Influences Intrauterine Growth Among Infants Whose Mothers Smoked During Pregnancy



[PMID 20110814OA-icon.png] Air pollution and homocysteine: more evidence that oxidative stress-related genes modify effects of particulate air pollution

[PMID 20391128] Detection of quinone oxidoreductase 1 (NQO1) single-nucleotide polymorphisms (SNP) related to benzene metabolism in immortalized B lymphocytes from a Chinese Han population

[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 21133623] No Association of NAD(P)H: quinone oxidoreductase 1 (NQO1) C609T Polymorphism and Risk of Hepatocellular Carcinoma Development in Turkish Subjects

OMIM125860
Desc
Variant0001
Relatedalso


[PMID 22215148] Association of NQO1 rs1800566 polymorphism and the risk of colorectal cancer: a meta-analysis


[PMID 22272361OA-icon.png] A Functional NQO1 609C>T Polymorphism and Risk of Gastrointestinal Cancers: A Meta-Analysis


[PMID 21351093] Association of superoxide dismutases and NAD(P)H quinone oxidoreductases with prognosis of patients with breast carcinomas


[PMID 22573488] EGFR exon 19 in-frame deletion and polymorphisms of DNA repair genes in never-smoking female lung adenocarcinoma patients


[PMID 22016051] Leads from xenobiotic metabolism genes for Parkinson's disease among north Indians


ClinVar
Risk rs1800566(T;T)
Alt rs1800566(T;T)
Reference rs1800566(C;C)
Significance Other
Disease Benzene toxicity Leukemia Breast cancer Alkylating Agents
Variation info
Gene NQO1
CLNDBN Benzene toxicity, susceptibility to Leukemia, post-chemotherapy, susceptibility to Breast cancer, post-chemotherapy poor survival in Alkylating Agents, anthracyclines and related substances, fluorouracil, and Platinum compounds response - Efficacy
Reversed 1
HGVS NC_000016.9:g.69745145G>A
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000018300.2, RCV000018301.2, RCV000018302.23, RCV000211294.1,



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


[PMID 16026601OA-icon.png] Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.


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


[PMID 17160896OA-icon.png] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.


[PMID 17366837OA-icon.png] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.


[PMID 17424838] [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].


[PMID 17697348OA-icon.png] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).


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


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


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


[PMID 18535201OA-icon.png] A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.


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


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


[PMID 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.


[PMID 18922824OA-icon.png] Genetic susceptibility to childhood leukaemia.


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


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


[PMID 19174490OA-icon.png] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.


[PMID 19494791] NAD(P)H:quinone oxidoreductase 1 Pro187Ser polymorphism and expression do not cosegregate with clinico-pathological characteristics of human mammary tumors.


[PMID 19822020OA-icon.png] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.


[PMID 20049130OA-icon.png] Black carbon exposure, oxidative stress genes, and blood pressure in a repeated-measures study.


[PMID 20049212OA-icon.png] Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS).


[PMID 20091863] Genetic polymorphisms of MPO, GSTT1, GSTM1, GSTP1, EPHX1 and NQO1 as risk factors of early-onset lung cancer.


[PMID 20966810] Superoxide dismutase and nicotinamide adenine dinucleotide phosphate: quinone oxidoreductase polymorphisms and pancreatic cancer risk.


[PMID 21034357OA-icon.png] DCPIP (2,6-dichlorophenolindophenol) as a genotype-directed redox chemotherapeutic targeting NQO1*2 breast carcinoma.


[PMID 21706157] NQO1 expression correlates inversely with NFkappaB activation in human breast cancer.


[PMID 21946896] Two minor NQO1 and NQO2 alleles predict poor response of breast cancer patients to adjuvant doxorubicin and cyclophosphamide therapy.


[PMID 22200898] Maternal smoking during pregnancy, genetic polymorphisms of metabolic enzymes, and childhood acute leukemia: the ESCALE study (SFCE).


[PMID 22976839] 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
NQO1-P187S
aa_change Pro187Ser
aa_change_short P187S
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.197156
summary



[PMID 23276910] Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD


[PMID 23534750] Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection


[PMID 23651475OA-icon.png] Polymorphisms in xenobiotic metabolizing genes (EPHX1, NQO1 and PON1) in lymphoma susceptibility: a case control study


[PMID 24354914] NQO1 rs1800566 C>T polymorphism was associated with a decreased risk of esophageal cancer in a Chinese population


[PMID 24571676OA-icon.png] RAS mutations in early age leukaemia modulated by NQO1 rs1800566 (C609T) are associated with second-hand smoking exposures


[PMID 22972504] A functional NQO1 609C>T polymorphism and risk of hepatocellular carcinoma in a Chinese population.


[PMID 22987024] Aromatic DNA adducts and number of lung cancer risk alleles in Map-Ta-Phut Industrial Estate workers and nearby residents.


[PMID 23054000] Genetic variants in metabolizing genes NQO1, NQO2, MTHFR and risk of prostate cancer: a study from North India.


[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 24755231OA-icon.png] NQO1 gene rs1800566 variant is not associated with risk for multiple sclerosis


[PMID 24830960] Genetic polymorphism 609C>T in NAD(P)H:quinone oxidoreductase 1 enhances the risk of proximal colon cancer


[PMID 25054016OA-icon.png] Association of NQO1 and TNF polymorphisms with Parkinson's disease: A meta-analysis of 15 genetic association studies


[PMID 26451011] Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas


[PMID 27078674] Genetic association of NAD(P)H Quinone Oxidoreductase (NQO1*2) polymorphism with NQO1 levels and risk of diabetic nephropathy


[PMID 27279837] Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population.