rs1800566

Known as C609T and P187S; Encodes NAD(P)H dehydrogenase (quinone 1)

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	1.8	Possible Lower Lung Cancer risk
(T;T)	3.1	Benzene toxicity; cancer risks

Reference

GRCh38 38.1/141

Chromosome

16

Position

69711242

Gene

NQO1

is a	snp
is	mentioned by
dbSNP	rs1800566
dbSNP (classic)	rs1800566
ClinGen	rs1800566
ebi	rs1800566
HLI	rs1800566
Exac	rs1800566
Gnomad	rs1800566
Varsome	rs1800566
LitVar	rs1800566
Map	rs1800566
PheGenI	rs1800566
Biobank	rs1800566
1000 genomes	rs1800566
hgdp	rs1800566
ensembl	rs1800566
geneview	rs1800566
scholar	rs1800566
google	rs1800566
pharmgkb	rs1800566
gwascentral	rs1800566
openSNP	rs1800566
23andMe	rs1800566
SNPshot	rs1800566
SNPdbe	rs1800566
MSV3d	rs1800566
GWAS Ctlg	rs1800566

GMAF

0.2769

Max Magnitude

3.1

?

(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(C;T) heterozygotes have 0.48x reduced risk for Lung cancer [PMID 15498787]

OMIM	125860
Desc	NAD(P)H DEHYDROGENASE, QUINONE 1; NQO1
Variant
Related	also

[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 20110814 ] 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 20663217 ] 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

OMIM	125860
Desc
Variant	0001
Related	also

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

[PMID 22272361 ] 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 Lung cancer
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 Lung cancer
Reversed	1
HGVS	NC_000016.9:g.69745145G>A
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC	RCV000018300.2, RCV000018301.2, RCV000018302.23, RCV000211294.1, RCV000434090.1,

[PMID 15576619 ] Hematotoxicity in workers exposed to low levels of benzene.

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

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

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

[PMID 17366837 ] 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 17697348 ] 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 18191955 ] 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 18535201 ] A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.

[PMID 18547414 ] Genotyping panel for assessing response to cancer chemotherapy.

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

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

[PMID 18922824 ] Genetic susceptibility to childhood leukaemia.

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

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

[PMID 19174490 ] 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 19822020 ] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.

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

[PMID 20049212 ] 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 21034357 ] 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

[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 23651475 ] 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 24571676 ] 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 23175176 ] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 24755231 ] 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 25054016 ] 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.

[PMID 32185238 ] Haplotype Analysis of Candidate Genes Involved in Inflammation and Oxidative Stress and the Susceptibility to Preeclampsia.