rs1051730

Homo sapiens
G>A
CHRNA3 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0272 (33101/121262,ExAC)
A=0253 (7568/29860,GnomAD)
A=0238 (6930/29118,TOPMED)
G==0271 (3529/12978,GO-ESP)
A=0168 (842/5008,1000G)
A=0324 (1247/3854,ALSPAC)
A=0328 (1217/3708,TWINSUK)
chr15:78601997 (GRCh38.p7) (15q25.1)
ND
GWASdb2 | GWASCatalog
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.78601997G>A
GRCh37.p13 chr 15NC_000015.9:g.78894339G>A
CHRNA3 RefSeqGeneNG_016143.1:g.24299C>T

Gene: CHRNA3, cholinergic receptor nicotinic alpha 3 subunit(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CHRNA3 transcript variant 1NM_000743.4:c.645C>TY [TAC]> Y [TAT]Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-3 isoform 1 precursorNP_000734.2:p.Tyr...NP_000734.2:p.Tyr215=Y [Tyr]> Y [Tyr]Synonymous Variant
CHRNA3 transcript variant 2NM_001166694.1:c....NM_001166694.1:c.645C>TY [TAC]> Y [TAT]Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-3 isoform 2 precursorNP_001160166.1:p....NP_001160166.1:p.Tyr215=Y [Tyr]> Y [Tyr]Synonymous Variant
CHRNA3 transcript variant 3NR_046313.1:n.114...NR_046313.1:n.1146C>TC>TNon Coding Transcript Variant
CHRNA3 transcript variant X1XM_006720382.2:c....XM_006720382.2:c.444C>TY [TAC]> Y [TAT]Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-3 isoform X1XP_006720445.1:p....XP_006720445.1:p.Tyr148=Y [Tyr]> Y [Tyr]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.913A=0.087
1000GenomesAmericanSub694G=0.780A=0.220
1000GenomesEast AsianSub1008G=0.973A=0.027
1000GenomesEuropeSub1006G=0.631A=0.369
1000GenomesGlobalStudy-wide5008G=0.832A=0.168
1000GenomesSouth AsianSub978G=0.820A=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.676A=0.324
The Exome Aggregation ConsortiumAmericanSub21964G=0.868A=0.131
The Exome Aggregation ConsortiumAsianSub25132G=0.835A=0.164
The Exome Aggregation ConsortiumEuropeSub73258G=0.648A=0.352
The Exome Aggregation ConsortiumGlobalStudy-wide121262G=0.727A=0.272
The Exome Aggregation ConsortiumOtherSub908G=0.680A=0.320
The Genome Aggregation DatabaseAfricanSub8690G=0.883A=0.117
The Genome Aggregation DatabaseAmericanSub836G=0.790A=0.210
The Genome Aggregation DatabaseEast AsianSub1616G=0.972A=0.028
The Genome Aggregation DatabaseEuropeSub18416G=0.661A=0.338
The Genome Aggregation DatabaseGlobalStudy-wide29860G=0.746A=0.253
The Genome Aggregation DatabaseOtherSub302G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.762A=0.238
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.672A=0.328
PMID Title Author Journal
20656943Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease.Pillai SGAm J Respir Crit Care Med
19132693Variants in nicotinic acetylcholine receptors alpha5 and alpha3 increase risks to nicotine dependence.Chen XAm J Med Genet B Neuropsychiatr Genet
19010884Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine.Le Marchand LCancer Res
26689306Gene variance in the nicotinic receptor cluster (CHRNA5-CHRNA3-CHRNB4) predicts death from cardiopulmonary disease and cancer in smokers.Hallden SJ Intern Med
23267696Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.Guo YBMC Med Genomics
22510351Defining a gene promoter methylation signature in sputum for lung cancer risk assessment.Leng SClin Cancer Res
22492058A common genetic network underlies substance use disorders and disruptive or externalizing disorders.Arcos-Burgos MHum Genet
27613883Does High Tobacco Consumption Cause Psychological Distress? A Mendelian Randomization Study.Skov-Ettrup LSNicotine Tob Res
24686516CHRNA3 polymorphism modifies lung adenocarcinoma risk in the Chinese Han population.He PInt J Mol Sci
21268243Markers in the 15q24 nicotinic receptor subunit gene cluster (CHRNA5-A3-B4) predict severity of nicotine addiction and response to smoking cessation therapy.Sarginson JEAm J Med Genet B Neuropsychiatr Genet
23872218Functional characterization of SNPs in CHRNA3/B4 intergenic region associated with drug behaviors.Flora AVBrain Res
21498873Associations of nicotine intake measures with CHRN genes in Finnish smokers.Keskitalo-Vuokko KNicotine Tob Res
21593077Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index.Freathy RMInt J Epidemiol
24588897CHRNA5 and CHRNA3 variants and level of neuroticism in young adult Mexican American men and women.Criado JRTwin Res Hum Genet
19423719Update in lung cancer 2008.Dubey SAm J Respir Crit Care Med
23028716Association test based on SNP set: logistic kernel machine based test vs. principal component analysis.Zhao YPLoS One
28520984Genome-Wide Association Study of Heavy Smoking and Daily/Nondaily Smoking in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).Saccone NLNicotine Tob Res
18414406Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.Wang JCMol Psychiatry
19443489Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.Wang JCHum Mol Genet
23196875Variants in the 15q25 gene cluster are associated with risk for schizophrenia and bipolar disorder.Jackson KJPsychiatr Genet
23429840Prepulse inhibition of startle response: recent advances in human studies of psychiatric disease.Takahashi HClin Psychopharmacol Neurosci
22793939Genes and chronic obstructive pulmonary disease.Foreman MGMed Clin North Am
18957677The CHRNA5-A3 region on chromosome 15q24-25.1 is a risk factor both for nicotine dependence and for lung cancer.Spitz MRJ Natl Cancer Inst
20808433Associations of variants in CHRNA5/A3/B4 gene cluster with smoking behaviors in a Korean population.Li MDPLoS One
22495174DRD1 associations with smoking abstinence across slow and normal nicotine metabolizers.Lee WPharmacogenet Genomics
26044620Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.Reyes-Gibby CCBMC Syst Biol
23228068Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model.Li HBMC Med Genet
26942719Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males.Zhang YPLoS One
24778978Genetics and smoking.Loukola ACurr Addict Rep
22534784Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure.Munafo MRJ Natl Cancer Inst
19300500A genome-wide association study of pulmonary function measures in the Framingham Heart Study.Wilk JBPLoS Genet
19750184Genome-wide association studies for atherosclerotic vascular disease and its risk factors.Ding KCirc Cardiovasc Genet
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet
24786987Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction.Wain LVPLoS Genet
20643934A genetically modulated, intrinsic cingulate circuit supports human nicotine addiction.Hong LEProc Natl Acad Sci U S A
21748402A twin association study of nicotine dependence with markers in the CHRNA3 and CHRNA5 genes.Maes HHBehav Genet
20886544Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance.Winterer GAm J Med Genet B Neuropsychiatr Genet
26948517Genetic scores of smoking behaviour in a Chinese population.Yang SSci Rep
17135278Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.Saccone SFHum Mol Genet
24065931The CHRNA3 rs578776 Variant is Associated with an Intrinsic Reward Sensitivity Deficit in Smokers.Robinson JDFront Psychiatry
22837378Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.Wilk JBAm J Respir Crit Care Med
23820649Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Cooper DNHum Genet
20393456Sensorimotor gating is associated with CHRNA3 polymorphisms in schizophrenia and healthy volunteers.Petrovsky NNeuropsychopharmacology
25051068Four SNPs in the CHRNA3/5 alpha-neuronal nicotinic acetylcholine receptor subunit locus are associated with COPD risk based on meta-analyses.Cui KPLoS One
21697764Susceptibility locus for lung cancer at 15q25.1 is not associated with risk of pancreatic cancer.Chen JPancreas
22441734CHRNA3 genotype, nicotine dependence, lung function and disease in the general population.Kaur-Knudsen DEur Respir J
23604333The effect of nicotine on sensorimotor gating is modulated by a CHRNA3 polymorphism.Petrovsky NPsychopharmacology (Berl)
27166759Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.Yang JMol Psychiatry
27335628A prospective and retrospective analysis of smoking behavior changes in ever smokers with high risk for lung cancer from New Mexico and Pennsylvania.Leng SInt J Mol Epidemiol Genet
22301922Measuring alcohol consumption for genomic meta-analyses of alcohol intake: opportunities and challenges.Agrawal AAm J Clin Nutr
23299987Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.Siedlinski MHum Genet
20564069Mediating effects of smoking and chronic obstructive pulmonary disease on the relation between the CHRNA5-A3 genetic locus and lung cancer risk.Wang JCancer
19259974Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.Saccone NLAm J Med Genet B Neuropsychiatr Genet
20485328Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes.Sherva RNeuropsychopharmacology
19494806Dopamine genes and nicotine dependence in treatment-seeking and community smokers.Bergen AWNeuropsychopharmacology
20631687Variation in the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 and its interaction with recent tobacco use influence cognitive flexibility.Zhang HNeuropsychopharmacology
22241830Analysis of detailed phenotype profiles reveals CHRNA5-CHRNA3-CHRNB4 gene cluster association with several nicotine dependence traits.Broms UNicotine Tob Res
18759969In search of causal variants: refining disease association signals using cross-population contrasts.Saccone NLBMC Genet
26351737Nicotinic acetylcholine receptors: upregulation, age-related effects and associations with drug use.Melroy-Greif WEGenes Brain Behav
19859904Association and interaction analysis of variants in CHRNA5/CHRNA3/CHRNB4 gene cluster with nicotine dependence in African and European Americans.Li MDAm J Med Genet B Neuropsychiatr Genet
21296624An analysis of single nucleotide polymorphisms of 125 DNA repair genes in the Texas genome-wide association study of lung cancer with a replication for the XRCC4 SNPs.Yu HDNA Repair (Amst)
27827986Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence.Zuo LGenes (Basel)
23397474Polymorphisms of CHRNA5-CHRNA3-CHRNB4 Gene Cluster and NSCLC Risk in Chinese Population.Li ZTransl Oncol
22640768The genetic basis of addictive disorders.Ducci FPsychiatr Clin North Am
25293386Investigating the possible causal association of smoking with depression and anxiety using Mendelian randomisation meta-analysis: the CARTA consortium.Taylor AEBMJ Open
25302169Acetylcholine receptor pathway in lung cancer: New twists to an old story.Niu XMWorld J Clin Oncol
23942621Interaction between polygenic risk for cigarette use and environmental exposures in the Detroit Neighborhood Health Study.Meyers JLTransl Psychiatry
23408875Getting more out of biomedical documents with GATE's full lifecycle open source text analytics.Cunningham HPLoS Comput Biol
23143843Molecular mechanisms underlying behaviors related to nicotine addiction.Picciotto MRCold Spring Harb Perspect Med
22914670Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.Zhou HJ Hum Genet
26054357Tobacco smoking is causally associated with antipsychotic medication use and schizophrenia, but not with antidepressant medication use or depression.Wium-Andersen MKInt J Epidemiol
19836008A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.Landi MTAm J Hum Genet
18978790Lung cancer susceptibility locus at 5p15.33.McKay JDNat Genet
22992668Pharmacogenomics knowledge for personalized medicine.Whirl-Carrillo MClin Pharmacol Ther
19436041Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.Baker TBNicotine Tob Res
20418890Genome-wide meta-analyses identify multiple loci associated with smoking behavior.-Nat Genet
22832964Genome-wide meta-analyses of smoking behaviors in African Americans.David SPTransl Psychiatry
23249876Nicotinic acetylcholine receptor variation and response to smoking cessation therapies.Bergen AWPharmacogenet Genomics
22854838The influence of race and ethnicity on the biology of cancer.Henderson BENat Rev Cancer
27663783A Novel Tobacco Use Phenotype Suggests the 15q25 and 19q13 Loci May be Differentially Associated With Cigarettes per Day and Tobacco-Related Problems.Richmond-Rakerd LSNicotine Tob Res
20585100Genome-wide association studies of cancer.Stadler ZKJ Clin Oncol
20142248Cumulative effect of multiple loci on genetic susceptibility to familial lung cancer.Liu PCancer Epidemiol Biomarkers Prev
24337855Association between CHRNA3 rs1051730 genotype and lung cancer risk in Chinese Han population: a case-control study.Ren JHJ Huazhong Univ Sci Technolog Med Sci
22586632Variants in inflammation genes are implicated in risk of lung cancer in never smokers exposed to second-hand smoke.Spitz MRCancer Discov
22687325The causal role of smoking in anxiety and depression: a Mendelian randomization analysis of the HUNT study.Bjorngaard JHPsychol Med
19247474Genome-wide and candidate gene association study of cigarette smoking behaviors.Caporaso NPLoS One
20348396A general framework for studying genetic effects and gene-environment interactions with missing data.Hu YJBiostatistics
23027417Nicotinic mechanisms in the treatment of psychotic disorders: a focus on the alpha7 nicotinic receptor.Olincy AHandb Exp Pharmacol
23875064Scrutiny of the CHRNA5-CHRNA3-CHRNB4 smoking behavior locus reveals a novel association with alcohol use in a Finnish population based study.Hallfors JInt J Mol Epidemiol Genet
22223462Alpha-5 and -3 nicotinic receptor gene variants predict nicotine dependence but not cessation: findings from the COMMIT cohort.Bousman CAAm J Med Genet B Neuropsychiatr Genet
22281715Recent advances in the genetic epidemiology and molecular genetics of substance use disorders.Kendler KSNat Neurosci
23056235Functional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in Chinese.Yang LPLoS One
23689675Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents.Nees FNeuropsychopharmacology
20010834Genome-wide association study identifies five loci associated with lung function.Repapi ENat Genet
20010835Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.Hancock DBNat Genet
26079503Associations between Potentially Modifiable Risk Factors and Alzheimer Disease: A Mendelian Randomization Study.Ostergaard SDPLoS Med
26695521Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation?Noyce AJMov Disord
23844051Association of CHRNA5-A3-B4 variation with esophageal squamous cell carcinoma risk and smoking behaviors in a Chinese population.Wang YPLoS One
22438940Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking.Kapoor MPLoS One
22539395Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25.Chen LSGenet Epidemiol
22648373Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success.Chen LSAm J Psychiatry
19800047Integration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility gene.DeMeo DLAm J Hum Genet
25874685CHRNA3 rs6495308 genotype as an effect modifier of the association between daily cigarette consumption and hypertension in Chinese male smokers.Wu XYInt J Environ Res Public Health
21858091In vitro and ex vivo analysis of CHRNA3 and CHRNA5 haplotype expression.Doyle GAPLoS One
25036316Joint association of nicotinic acetylcholine receptor variants with abdominal obesity in American Indians: the Strong Heart Family Study.Zhu YPLoS One
20159342Genetics of addictions.Hartz SMPsychiatr Clin North Am
24254305Quantitative assessment of the influence of common variations (rs8034191 and rs1051730) at 15q25 and lung cancer risk.Hu BTumour Biol
25632390Association between genetic variants on chromosome 15q25 locus and several nicotine dependence traits in Polish population: a case-control study.Buczkowski KBiomed Res Int
21690317CHRNA3 rs1051730 genotype and short-term smoking cessation.Munafo MRNicotine Tob Res
18385676Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.Amos CINat Genet
23701534Genetic instrumental variable studies of effects of prenatal risk factors.Wehby GLBiodemography Soc Biol
23090857Emerging genetics of COPD.Berndt AEMBO Mol Med
22080838A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.Cho MHHum Mol Genet
25174004Genetic variability in the regulation of gene expression in ten regions of the human brain.Ramasamy ANat Neurosci
21559498Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk.Wang YPLoS One
24906368High tobacco consumption is causally associated with increased all-cause mortality in a general population sample of 55,568 individuals, but not with short telomeres: a Mendelian randomization study.Rode LInt J Epidemiol
18618000A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.Weiss RBPLoS Genet
20418889Meta-analysis and imputation refines the association of 15q25 with smoking quantity.Liu JZNat Genet
20418888Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.Thorgeirsson TENat Genet
21168125TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.Ducci FBiol Psychiatry
22280835New associations of the genetic polymorphisms in nicotinic receptor genes with the risk of lung cancer.Chikova ALife Sci
25777141High tobacco consumption lowers body weight: a Mendelian randomization study of the Copenhagen General Population Study.Winslow UCInt J Epidemiol
26981579Gene by Environment Investigation of Incident Lung Cancer Risk in African-Americans.David SPEBioMedicine
25214750Genomics and personalized medicine: CHRNA5-CHRNA3-CHRNB4 and smoking cessation treatment.Chen LSJ Food Drug Anal
26264275Heavier smoking may lead to a relative increase in waist circumference: evidence for a causal relationship from a Mendelian randomisation meta-analysis. The CARTA consortium.Morris RWBMJ Open
26981122The Oncogenic Functions of Nicotinic Acetylcholine Receptors.Zhao YJ Oncol
21232152Epidemiology, radiology, and genetics of nicotine dependence in COPD.Kim DKRespir Res
20147892Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.Ray RNeuropsychopharmacology
24535486CHRNA3 and CYP3A5*3 genotype, lung function and chronic obstructive pulmonary disease in the general population.Kaur-Knudsen DPharmacogenet Genomics
23349703Variants in the 15q24/25 locus associate with lung function decline in active smokers.Mohamed Hoesein FAPLoS One
22806211The genetics of addiction-a translational perspective.Agrawal ATransl Psychiatry
19300482A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.Pillai SGPLoS Genet
22662130Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method.Johansson MPLoS One
19064933Chromosome 15q25.1 genetic markers associated with level of response to alcohol in humans.Joslyn GProc Natl Acad Sci U S A
19005185Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the Japanese.Shiraishi KCarcinogenesis
19951401Chronic obstructive pulmonary disease: towards pharmacogenetics.Wood AMGenome Med
21808284Gender-stratified gene and gene-treatment interactions in smoking cessation.Lee WPharmacogenomics J
22102629Dissection of the phenotypic and genotypic associations with nicotinic dependence.Chen LSNicotine Tob Res
18519524Variants in nicotinic receptors and risk for nicotine dependence.Bierut LJAm J Psychiatry
28049019The causal role of smoking on the risk of hip or knee replacement due to primary osteoarthritis: a Mendelian randomisation analysis of the HUNT study.Johnsen MBOsteoarthritis Cartilage
26961927Best (but oft-forgotten) practices: the design, analysis, and interpretation of Mendelian randomization studies.Haycock PCAm J Clin Nutr
19903803Re: Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.Spitz MRJ Natl Cancer Inst
22176972Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a meta-analysis.Zhang JRespir Res
23536134Polygenic risk and the developmental progression to heavy, persistent smoking and nicotine dependence: evidence from a 4-decade longitudinal study.Belsky DWJAMA Psychiatry
18565990Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.Saccone SFBioinformatics
21248747Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.Sorice REur J Hum Genet
20395203A second genetic variant on chromosome 15q24-25.1 associates with lung cancer.Liu PCancer Res
27230571Different dietary patterns and reduction of lung cancer risk: A large case-control study in the U.S.Tu HSci Rep
21438146Dysfunctional gene splicing as a potential contributor to neuropsychiatric disorders.Glatt SJAm J Med Genet B Neuropsychiatr Genet
22956269Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight.Tyrrell JHum Mol Genet
22945651Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4.Scherf DBOncogene
18571741Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.Portugal GSBehav Brain Res
25555385Nicotine Dependence, Nicotine Metabolism, and the Extent of Compensation in Response to Reduced Nicotine Content Cigarettes.Bandiera FCNicotine Tob Res
21079997Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence.Culverhouse RCHum Genet
22290489Pharmacogenetics of smoking cessation: role of nicotine target and metabolism genes.Gold ABHum Genet
21229299Chromosome 15q24-25.1 variants, diet, and lung cancer susceptibility in cigarette smokers.Sakoda LCCancer Causes Control
27694844An Adaptive Fisher's Combination Method for Joint Analysis of Multiple Phenotypes in Association Studies.Liang XSci Rep
26751916CHRNA5/CHRNA3 Locus Associates with Increased Mortality among Smokers.Kupiainen HCOPD
22438921Nicotinic acetylcholine receptor variants are related to smoking habits, but not directly to COPD.Budulac SEPLoS One
21606948Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.Swan GEPharmacogenomics J
23454887Role of selected genetic variants in lung cancer risk in African Americans.Spitz MRJ Thorac Oncol
19733931Blood-based CHRNA3 single nucleotide polymorphism and outcome in advanced non-small-cell lung cancer patients.Carcereny ELung Cancer
20548021Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.Truong TJ Natl Cancer Inst
25891233The association of rs1051730 genotype on adherence to and consumption of prescribed nicotine replacement therapy dose during a smoking cessation attempt.Ware JJDrug Alcohol Depend
20581870From smoking to lung cancer: the CHRNA5/A3/B4 connection.Improgo MROncogene
24867305Causal associations of tobacco smoking with cardiovascular risk factors: a Mendelian randomization analysis of the HUNT Study in Norway.Asvold BOInt J Epidemiol
19465454The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung.Zienolddiny SCarcinogenesis
23847157Using Mendelian randomisation to infer causality in depression and anxiety research.Gage SHDepress Anxiety
24388127Mendelian randomization in health research: using appropriate genetic variants and avoiding biased estimates.Taylor AEEcon Hum Biol
21430647The galanin receptor 1 gene associates with tobacco craving in smokers seeking cessation treatment.Lori ANeuropsychopharmacology
27015805Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants.Pilling LCAging (Albany NY)
20700436Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.Saccone NLPLoS Genet
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet
22102793GENES AS INSTRUMENTS FOR STUDYING RISK BEHAVIOR EFFECTS: AN APPLICATION TO MATERNAL SMOKING AND OROFACIAL CLEFTS.Wehby GHealth Serv Outcomes Res Methodol
23221128Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans.Walsh KMCancer Epidemiol Biomarkers Prev
23358500Variation in the alpha 5 nicotinic acetylcholine receptor subunit gene predicts cigarette smoking intensity as a function of nicotine content.Macqueen DAPharmacogenomics J
20736995Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerstrom test for nicotine dependence.Wessel JNeuropsychopharmacology
21191315Genetic association of bipolar disorder with the beta(3) nicotinic receptor subunit gene.Hartz SMPsychiatr Genet
21081471Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.Gago-Dominguez MCarcinogenesis
22544838From men to mice: CHRNA5/CHRNA3, smoking behavior and disease.Ware JJNicotine Tob Res
23588313Biomarkers for smoking cessation.Bough KJClin Pharmacol Ther
21228559An exploratory study on the CHRNA3-CHRNA5-CHRNB4 cluster, smoking, and Parkinson's disease.Gao JNeurodegener Dis
19706762The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.Saccone NLCancer Res
25045619The Genetics, Neurogenetics and Pharmacogenetics of Addiction.Demers CHCurr Behav Neurosci Rep
27805284Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs.Zhou FMol Carcinog
23692359CHRNA5-A3-B4 genetic variants alter nicotine intake and interact with tobacco use to influence body weight in Alaska Native tobacco users.Zhu AZAddiction
21357676Sequence variants at CYP1A1-CYP1A2 and AHR associate with coffee consumption.Sulem PHum Mol Genet
24572595Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue.Shi JNat Commun
21436384Genetic variability of smoking persistence in African Americans.Hamidovic ACancer Prev Res (Phila)
24084939A common biological basis of obesity and nicotine addiction.Thorgeirsson TETransl Psychiatry
25329654Role of a genetic variant on the 15q25.1 lung cancer susceptibility locus in smoking-associated nasopharyngeal carcinoma.Ji XPLoS One
22356581Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.Kim WJRespir Res
21747048Relationship between CYP2A6 and CHRNA5-CHRNA3-CHRNB4 variation and smoking behaviors and lung cancer risk.Wassenaar CAJ Natl Cancer Inst
19641473Racial differences in the association between SNPs on 15q25.1, smoking behavior, and risk of non-small cell lung cancer.Schwartz AGJ Thorac Oncol
22461431CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland.Hardin MAm J Respir Cell Mol Biol
25642160Nicotinic receptor modulation to treat alcohol and drug dependence.Rahman SFront Neurosci
26010901Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking.Tyndale RFPLoS One
21645942Association of smoking with tumor size at diagnosis in non-small cell lung cancer.Chen XLung Cancer
22071378Association of the CHRNA5-A3-B4 gene cluster with heaviness of smoking: a meta-analysis.Ware JJNicotine Tob Res
21949713Genetics of sputum gene expression in chronic obstructive pulmonary disease.Qiu WPLoS One
23943838Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.Cannon DSNicotine Tob Res
22148122A missense polymorphism (rs11895564, Ala380Thr) of integrin alpha 6 is associated with the development and progression of papillary thyroid carcinoma in Korean population.Kim SKJ Korean Surg Soc
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25009551The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.Kullo IJFront Genet
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21646606Nicotinic acetylcholine receptor polymorphism, smoking behavior, and tobacco-related cancer and lung and cardiovascular diseases: a cohort study.Kaur-Knudsen DJ Clin Oncol
18385739A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.Thorgeirsson TENature
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P-Value

SNP ID p-value Traits Study
rs10517306.00E-20nicotine dependence18385739
rs10517302.00E-08Smoking status (heavy vs light)28520984
rs10517300.001Drug response to nicotine18618000

eQTL of rs1051730 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:78894339CHRNA5ENSG00000169684.9G>A4.8140e-1736477Frontal_Cortex_BA9
Chr15:78894339CHRNA5ENSG00000169684.9G>A1.6230e-2036477Cortex
Chr15:78894339CHRNA5ENSG00000169684.9G>A1.5335e-1436477Caudate_basal_ganglia
Chr15:78894339RP11-650L12.2ENSG00000261762.1G>A1.2470e-1210721Caudate_basal_ganglia
Chr15:78894339CHRNA3ENSG00000080644.11G>A3.9747e-24-19298Caudate_basal_ganglia
Chr15:78894339CHRNA5ENSG00000169684.9G>A2.5847e-536477Substantia_nigra
Chr15:78894339CHRNA5ENSG00000169684.9G>A5.1270e-1536477Nucleus_accumbens_basal_ganglia

meQTL of rs1051730 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr157885686878857013E072-37326
chr157892992678929999E08135587
chr157893003378930244E08135694
chr157893454078934590E08140201
chr157893478278934896E08140443
chr157886578678866130E082-28209
chr157891955378919674E08225214
chr157891979978919961E08225460
chr157893003378930244E08235694
chr157893454078934590E08240201



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr157885705278859300E067-35039
chr157891174978913845E06817410
chr157885705278859300E069-35039
chr157893286278934267E06938523
chr157885705278859300E070-35039
chr157893286278934267E07038523
chr157893286278934267E07138523
chr157885705278859300E072-35039
chr157885705278859300E073-35039
chr157885705278859300E074-35039
chr157893286278934267E07438523
chr157885705278859300E081-35039
chr157885705278859300E082-35039
chr157891174978913845E08217410
chr157893271878932860E08238379
chr157893286278934267E08238523