rs16969968

Homo sapiens
G>A
CHRNA5 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0267 (32400/121044,ExAC)
A=0235 (7055/29960,GnomAD)
A=0211 (6168/29118,TOPMED)
A=0150 (749/5008,1000G)
A=0323 (1246/3854,ALSPAC)
A=0326 (1210/3708,TWINSUK)
chr15:78590583 (GRCh38.p7) (15q25.1)
ND
GWASdb2
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.78590583G>A
GRCh37.p13 chr 15NC_000015.9:g.78882925G>A
CHRNA5 RefSeqGeneNG_023328.1:g.30064G>A

Gene: CHRNA5, cholinergic receptor nicotinic alpha 5 subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHRNA5 transcript variant 2NM_001307945.1:c.N/AIntron Variant
CHRNA5 transcript variant 1NM_000745.3:c.119...NM_000745.3:c.1192G>AD [GAT]> N [AAT]Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursorNP_000736.2:p.Asp...NP_000736.2:p.Asp398AsnD [Asp]> N [Asn]Missense Variant
CHRNA5 transcript variant X3XM_005254142.3:c.N/AIntron Variant
CHRNA5 transcript variant X2XM_017021881.1:c.N/AIntron Variant
CHRNA5 transcript variant X1XR_001751067.1:n....XR_001751067.1:n.1391G>AG>ANon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.977A=0.023
1000GenomesAmericanSub694G=0.790A=0.210
1000GenomesEast AsianSub1008G=0.973A=0.027
1000GenomesEuropeSub1006G=0.634A=0.366
1000GenomesGlobalStudy-wide5008G=0.850A=0.150
1000GenomesSouth AsianSub978G=0.820A=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.677A=0.323
The Exome Aggregation ConsortiumAmericanSub21770G=0.895A=0.104
The Exome Aggregation ConsortiumAsianSub25106G=0.835A=0.164
The Exome Aggregation ConsortiumEuropeSub73266G=0.648A=0.351
The Exome Aggregation ConsortiumGlobalStudy-wide121044G=0.732A=0.267
The Exome Aggregation ConsortiumOtherSub902G=0.690A=0.310
The Genome Aggregation DatabaseAfricanSub8718G=0.941A=0.059
The Genome Aggregation DatabaseAmericanSub834G=0.800A=0.200
The Genome Aggregation DatabaseEast AsianSub1620G=0.971A=0.029
The Genome Aggregation DatabaseEuropeSub18486G=0.663A=0.337
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.764A=0.235
The Genome Aggregation DatabaseOtherSub302G=0.670A=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.788A=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.674A=0.326
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
21750227Single-nucleotide polymorphisms (5p15.33, 15q25.1, 6p22.1, 6q27 and 7p15.3) and lung cancer survival in the European Prospective Investigation into Cancer and Nutrition (EPIC).Xun WWMutagenesis
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
18227835Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking.Berrettini WMol Psychiatry
26771213Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease.Hobbs BDAm J Respir Crit Care Med
20624154Incorporating age at onset of smoking into genetic models for nicotine dependence: evidence for interaction with multiple genes.Grucza RAAddict Biol
19789337Haplotype and cell proliferation analyses of candidate lung cancer susceptibility genes on chromosome 15q24-25.1.Liu YCancer Res
22719919Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.dos Santos VAPLoS One
24686516CHRNA3 polymorphism modifies lung adenocarcinoma risk in the Chinese Han population.He PInt J Mol Sci
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
19944766A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia.Meda SANeuroimage
24084939A common biological basis of obesity and nicotine addiction.Thorgeirsson TETransl Psychiatry
19492010The genetic components of alcohol and nicotine co-addiction: from genes to behavior.Schlaepfer IRCurr Drug Abuse Rev
23689675Genetic risk for nicotine dependence in the cholinergic system and activation of the brain reward system in healthy adolescents.Nees FNeuropsychopharmacology
21748402A twin association study of nicotine dependence with markers in the CHRNA3 and CHRNA5 genes.Maes HHBehav Genet
18165968Identification of pharmacogenetic markers in smoking cessation therapy.Heitjan DFAm J Med Genet B Neuropsychiatr Genet
22046326'Smoking genes': a genetic association study.Verde ZPLoS One
18414406Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.Wang JCMol Psychiatry
25826680Genetic risks to nicotine dependence predict negative mood and affect in current non-smokers.Chen XSci Rep
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
19482438Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence.Etter JFAddict Behav
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
23143843Molecular mechanisms underlying behaviors related to nicotine addiction.Picciotto MRCold Spring Harb Perspect Med
26942719Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males.Zhang YPLoS One
21440309Association of FKBP5, COMT and CHRNA5 polymorphisms with PTSD among outpatients at risk for PTSD.Boscarino JAPsychiatry Res
22534784Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure.Munafo MRJ Natl Cancer Inst
19238175New insights into the genetics of addiction.Li MDNat Rev Genet
28069549SNPs within CHRNA5-A3-B4 and CYP2A6/B6 are associated with smoking dependence but not with tobacco dependence treatment outcomes in the Czech population.Hubacek JAGene
23942779A genome-wide association study of behavioral disinhibition.McGue MBehav Genet
20643934A genetically modulated, intrinsic cingulate circuit supports human nicotine addiction.Hong LEProc Natl Acad Sci U S A
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
19596527Nicotine dependence and genetic variation in the nicotinic receptors.Bierut LJDrug Alcohol Depend
17135278Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.Saccone SFHum Mol Genet
22665477Function of human alpha3beta4alpha5 nicotinic acetylcholine receptors is reduced by the alpha5(D398N) variant.George AAJ Biol Chem
24065931The CHRNA3 rs578776 Variant is Associated with an Intrinsic Reward Sensitivity Deficit in Smokers.Robinson JDFront Psychiatry
19760673Association of CHRN genes with "dizziness" to tobacco.Ehringer MAAm J Med Genet B Neuropsychiatr Genet
23870182Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era.Brothers JFBMC Med
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
23397474Polymorphisms of CHRNA5-CHRNA3-CHRNB4 Gene Cluster and NSCLC Risk in Chinese Population.Li ZTransl Oncol
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
24838476Vitamin C supplementation for pregnant smoking women and pulmonary function in their newborn infants: a randomized clinical trial.McEvoy CTJAMA
21418140A CHRNA5 allele related to nicotine addiction and schizophrenia.Hong LEGenes Brain Behav
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
26282330The role of haplotype in 15q25.1 locus in lung cancer risk: results of scanning chromosome 15.Ji XCarcinogenesis
20631687Variation in the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 and its interaction with recent tobacco use influence cognitive flexibility.Zhang HNeuropsychopharmacology
21929786Significance testing in ridge regression for genetic data.Cule EBMC Bioinformatics
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
20981002Breaking barriers in the genomics and pharmacogenetics of drug addiction.Ho MKClin Pharmacol Ther
21335511A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers.Chen DCancer Epidemiol Biomarkers Prev
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
21079997Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence.Culverhouse RCHum Genet
18519132A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence.Grucza RABiol Psychiatry
27827986Replicated Risk Nicotinic Cholinergic Receptor Genes for Nicotine Dependence.Zuo LGenes (Basel)
24388127Mendelian randomization in health research: using appropriate genetic variants and avoiding biased estimates.Taylor AEEcon Hum Biol
19474294Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.Hindorff LAProc Natl Acad Sci U S A
22028403A case-control study of a sex-specific association between a 15q25 variant and lung cancer risk.Wei CCancer Epidemiol Biomarkers Prev
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
21338875Genetic vulnerability and susceptibility to substance dependence.Bierut LJNeuron
23793356Neuroimaging in psychiatric pharmacogenetics research: the promise and pitfalls.Falcone MNeuropsychopharmacology
18783506Association of a single nucleotide polymorphism in neuronal acetylcholine receptor subunit alpha 5 (CHRNA5) with smoking status and with 'pleasurable buzz' during early experimentation with smoking.Sherva RAddiction
22914670Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.Zhou HJ Hum Genet
22042774Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.Haller GHum Mol Genet
19184766A testable prognostic model of nicotine dependence.Ramoni RBJ Neurogenet
23443019Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56,307 individuals from the HUNT study in Norway.Gabrielsen MEEur J Hum Genet
23872218Functional characterization of SNPs in CHRNA3/B4 intergenic region associated with drug behaviors.Flora AVBrain Res
24727484CHRNA5 variant predicts smoking cessation in patients with acute myocardial infarction.Chen LSNicotine Tob Res
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
25233467Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma.Tseng TSPLoS One
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
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
23349703Variants in the 15q24/25 locus associate with lung function decline in active smokers.Mohamed Hoesein FAPLoS One
20587604Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans.Hansen HMHum Mol Genet
19247474Genome-wide and candidate gene association study of cigarette smoking behaviors.Caporaso NPLoS One
25642160Nicotinic receptor modulation to treat alcohol and drug dependence.Rahman SFront Neurosci
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
18978134Lung cancer gene associated with COPD: triple whammy or possible confounding effect?Young RPEur Respir J
22281715Recent advances in the genetic epidemiology and molecular genetics of substance use disorders.Kendler KSNat Neurosci
21593077Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index.Freathy RMInt J Epidemiol
22438940Variants located upstream of CHRNB4 on chromosome 15q25.1 are associated with age at onset of daily smoking and habitual smoking.Kapoor MPLoS One
27134767Genome-wide time-to-event analysis on smoking progression stages in a family-based study.He LBrain Behav
20529875SPOT: a web-based tool for using biological databases to prioritize SNPs after a genome-wide association study.Saccone SFNucleic Acids Res
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
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
22052802Gene-environment interactions of novel variants associated with head and neck cancer.Liang CHead Neck
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
26961927Best (but oft-forgotten) practices: the design, analysis, and interpretation of Mendelian randomization studies.Haycock PCAm J Clin Nutr
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
22080838A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.Cho MHHum Mol Genet
22176972Nicotinic acetylcholine receptor variants associated with susceptibility to chronic obstructive pulmonary disease: a meta-analysis.Zhang JRespir Res
21559498Chromosome 15q25 (CHRNA3-CHRNA5) variation impacts indirectly on lung cancer risk.Wang YPLoS One
23178447Lung cancer risk in relation to nicotinic acetylcholine receptor, CYP2A6 and CYP1A1 genotypes in the Bangladeshi population.Islam MSClin Chim Acta
20056643A rigorous and comprehensive validation: common genetic variations and lung cancer.Yang PCancer Epidemiol Biomarkers Prev
24819610DRD2/CHRNA5 interaction on prefrontal biology and physiology during working memory.Di Giorgio APLoS One
20418889Meta-analysis and imputation refines the association of 15q25 with smoking quantity.Liu JZNat Genet
21500120Lung cancer in never smokers.Yang PSemin Respir Crit Care Med
21168125TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.Ducci FBiol Psychiatry
19390575Lung cancer susceptibility model based on age, family history and genetic variants.Young RPPLoS One
26981579Gene by Environment Investigation of Incident Lung Cancer Risk in African-Americans.David SPEBioMedicine
20840187Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.Johnson EOAddiction
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
20147892Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.Ray RNeuropsychopharmacology
21810735Single nucleotide polymorphisms in CHRNA5 rs16969968, CHRNA3 rs578776, and LOC123688 rs8034191 are associated with heaviness of smoking in women in Northeastern Ontario, Canada.Conlon MSNicotine Tob Res
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
21955800The polymorphism of the CHRNA5 gene and the strength of nicotine addiction in lung cancer and COPD patients.Wojas-Krawczyk KEur J Cancer Prev
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
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
21808284Gender-stratified gene and gene-treatment interactions in smoking cessation.Lee WPharmacogenomics J
24186853Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.Stephens SHGenet Epidemiol
25948103A CHRNA5 Smoking Risk Variant Decreases the Aversive Effects of Nicotine in Humans.Jensen KPNeuropsychopharmacology
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
26239294Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans.Olfson EMol Psychiatry
22837378Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.Wilk JBAm J Respir Crit Care Med
21808609Components of cross-frequency modulation in health and disease.Allen EAFront Syst Neurosci
27758088The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.Barrie ESHum Mutat
18565990Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence.Saccone SFBioinformatics
26695521Mendelian Randomization - the Key to Understanding Aspects of Parkinson's Disease Causation?Noyce AJMov Disord
23226157Gender differences in cancer susceptibility: an inadequately addressed issue.Dorak MTFront Genet
21304900Individual and cumulative effects of GWAS susceptibility loci in lung cancer: associations after sub-phenotyping for COPD.Young RPPLoS One
20395203A second genetic variant on chromosome 15q24-25.1 associates with lung cancer.Liu PCancer Res
24934182CHRNA5 variants moderate the effect of nicotine deprivation on a neural index of cognitive control.Evans DEGenes Brain Behav
27327258Crucial roles of the CHRNB3-CHRNA6 gene cluster on chromosome 8 in nicotine dependence: update and subjects for future research.Wen LTransl Psychiatry
25674902Sex matters! Interactions of sex and polymorphisms of a cholinergic receptor gene (CHRNA5) modulate response speed.Schneider KKNeuroreport
25214750Genomics and personalized medicine: CHRNA5-CHRNA3-CHRNB4 and smoking cessation treatment.Chen LSJ Food Drug Anal
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
22048466Smoking cessation pharmacogenetics: analysis of varenicline and bupropion in placebo-controlled clinical trials.King DPNeuropsychopharmacology
18571741Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.Portugal GSBehav Brain Res
24733007Association of CHRNA5-A3-B4 SNP rs2036527 with smoking cessation therapy response in African-American smokers.Zhu AZClin Pharmacol Ther
21606948Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.Swan GEPharmacogenomics J
22544838From men to mice: CHRNA5/CHRNA3, smoking behavior and disease.Ware JJNicotine Tob Res
21229299Chromosome 15q24-25.1 variants, diet, and lung cancer susceptibility in cigarette smokers.Sakoda LCCancer Causes Control
22899653Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.Timofeeva MNHum Mol Genet
27694844An Adaptive Fisher's Combination Method for Joint Analysis of Multiple Phenotypes in Association Studies.Liang XSci Rep
21193173A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits.Stein MBBiol Psychiatry
22438921Nicotinic acetylcholine receptor variants are related to smoking habits, but not directly to COPD.Budulac SEPLoS One
23943838Effect of neuronal nicotinic acetylcholine receptor genes (CHRN) on longitudinal cigarettes per day in adolescents and young adults.Cannon DSNicotine Tob Res
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
20725741Nicotinic acetylcholine receptor genes on chromosome 15q25.1 are associated with nicotine and opioid dependence severity.Erlich PMHum Genet
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
26228411Examining gene-environment interactions in comorbid depressive and disruptive behavior disorders using a Bayesian approach.Adrian MJ Psychiatr Res
19330903Gene by smoking interaction in hypertension: identification of a major quantitative trait locus on chromosome 15q for systolic blood pressure in Mexican-Americans.Montasser MEJ Hypertens
20581870From smoking to lung cancer: the CHRNA5/A3/B4 connection.Improgo MROncogene
19465454The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung.Zienolddiny SCarcinogenesis
26142345Genetic variation (CHRNA5), medication (combination nicotine replacement therapy vs. varenicline), and smoking cessation.Chen LSDrug Alcohol Depend
21430647The galanin receptor 1 gene associates with tobacco craving in smokers seeking cessation treatment.Lori ANeuropsychopharmacology
20700436Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.Saccone NLPLoS Genet
22640768The genetic basis of addictive disorders.Ducci FPsychiatr Clin North Am
27121382Incorporating epistasis interaction of genetic susceptibility single nucleotide polymorphisms in a lung cancer risk prediction model.Marcus MWInt J Oncol
24682045Identification of CHRNA5 rare variants in African-American heavy smokers.Doyle GAPsychiatr Genet
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
25658328Polymorphism in the serotonin receptor 2a (HTR2A) gene as possible predisposal factor for aggressive traits.Banlaki ZPLoS One
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
22820273Impact of human D398N single nucleotide polymorphism on intracellular calcium response mediated by alpha3beta4alpha5 nicotinic acetylcholine receptors.Tammimaki ANeuropharmacology
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
19776245Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals.Lips EHInt J Epidemiol
26671949Effect of smoking on physical and cognitive capability in later life: a multicohort study using observational and genetic approaches.North TLBMJ Open
22536069Higher FKBP5, COMT, CHRNA5, and CRHR1 allele burdens are associated with PTSD and interact with trauma exposure: implications for neuropsychiatric research and treatment.Boscarino JANeuropsychiatr Dis Treat
21228559An exploratory study on the CHRNA3-CHRNA5-CHRNB4 cluster, smoking, and Parkinson's disease.Gao JNeurodegener Dis
27835950Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.Matsson HBMC Pulm Med
19706762The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.Saccone NLCancer Res
21862624Genetic polymorphisms in 15q25 and 19q13 loci, cotinine levels, and risk of lung cancer in EPIC.Timofeeva MNCancer Epidemiol Biomarkers Prev
25045619The Genetics, Neurogenetics and Pharmacogenetics of Addiction.Demers CHCurr Behav Neurosci Rep
22042234Externalizing behaviors are associated with SNPs in the CHRNA5/CHRNA3/CHRNB4 gene cluster.Stephens SHBehav Genet
22008662The association of the alpha-5 subunit of the nicotinic acetylcholine receptor gene and the brain-derived neurotrophic factor gene with different aspects of smoking behavior.Breetvelt EJPsychiatr Genet
24588897CHRNA5 and CHRNA3 variants and level of neuroticism in young adult Mexican American men and women.Criado JRTwin Res Hum Genet
23692359CHRNA5-A3-B4 genetic variants alter nicotine intake and interact with tobacco use to influence body weight in Alaska Native tobacco users.Zhu AZAddiction
22170288Translational genetic approaches to substance use disorders: bridging the gap between mice and humans.Palmer AAHum Genet
23844051Association of CHRNA5-A3-B4 variation with esophageal squamous cell carcinoma risk and smoking behaviors in a Chinese population.Wang YPLoS One
25632390Association between genetic variants on chromosome 15q25 locus and several nicotine dependence traits in Polish population: a case-control study.Buczkowski KBiomed Res Int
21436384Genetic variability of smoking persistence in African Americans.Hamidovic ACancer Prev Res (Phila)
26220977A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence.Hancock DBHum Mol Genet
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
21686075The Role of Genetics in Nicotine Dependence: Mapping the Pathways from Genome to Syndrome.Mackillop JCurr Cardiovasc Risk Rep
21764527Association between CHRNA5 genetic variation at rs16969968 and brain reactivity to smoking images in nicotine dependent women.Janes ACDrug Alcohol Depend
22889990Natural and orthogonal interaction framework for modeling gene-environment interactions with application to lung cancer.Ma JHum Hered
19641473Racial differences in the association between SNPs on 15q25.1, smoking behavior, and risk of non-small cell lung cancer.Schwartz AGJ Thorac Oncol
21618602Detecting genetic interactions for quantitative traits with U-statistics.Li MGenet Epidemiol
20854418CHRNB2 promoter region: association with subjective effects to nicotine and gene expression differences.Hoft NRGenes Brain Behav
24055496A glimpse into the future - Personalized medicine for smoking cessation.Bierut LJNeuropharmacology
22071378Association of the CHRNA5-A3-B4 gene cluster with heaviness of smoking: a meta-analysis.Ware JJNicotine Tob Res
27385416Alterations in alpha5* nicotinic acetylcholine receptors result in midbrain- and hippocampus-dependent behavioural and neural impairments.Besson MPsychopharmacology (Berl)
20691427Genetic associations of brain structural networks in schizophrenia: a preliminary study.Jagannathan KBiol Psychiatry
22701590Strong association between two polymorphisms on 15q25.1 and lung cancer risk: a meta-analysis.Gu MPLoS One
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23691092Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.Eicher JDPLoS One
20022891The evolving discipline of molecular epidemiology of cancer.Spitz MRCarcinogenesis
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
rs169699680.001Drug response to nicotine18618000

eQTL of rs16969968 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:78882925CHRNA5ENSG00000169684.9G>A4.8140e-1725063Frontal_Cortex_BA9
Chr15:78882925CHRNA5ENSG00000169684.9G>A1.6230e-2025063Cortex
Chr15:78882925CHRNA5ENSG00000169684.9G>A1.5335e-1425063Caudate_basal_ganglia
Chr15:78882925RP11-650L12.2ENSG00000261762.1G>A1.2470e-12-693Caudate_basal_ganglia
Chr15:78882925CHRNA3ENSG00000080644.11G>A3.9747e-24-30712Caudate_basal_ganglia
Chr15:78882925CHRNA5ENSG00000169684.9G>A2.5847e-525063Substantia_nigra
Chr15:78882925CHRNA5ENSG00000169684.9G>A5.1270e-1525063Nucleus_accumbens_basal_ganglia

meQTL of rs16969968 in Fetal Brain

Probe ID Position Gene beta p-value
cg18825076chr15:78729989IREB2-0.04505373963485773.7602e-9

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 )
chr157883465278834702E067-48223
chr157883465278834702E069-48223
chr157883485878834908E069-48017
chr157883506878835124E069-47801
chr157883512578835267E069-47658
chr157883541478835508E069-47417
chr157883557978835628E069-47297
chr157883465278834702E070-48223
chr157885686878857013E072-25912
chr157883465278834702E073-48223
chr157883465278834702E081-48223
chr157883485878834908E081-48017
chr157892992678929999E08147001
chr157893003378930244E08147108
chr157883465278834702E082-48223
chr157883485878834908E082-48017
chr157886578678866130E082-16795
chr157891955378919674E08236628
chr157891979978919961E08236874
chr157893003378930244E08247108







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr157885705278859300E067-23625
chr157891174978913845E06828824
chr157885705278859300E069-23625
chr157885705278859300E070-23625
chr157885705278859300E072-23625
chr157885705278859300E073-23625
chr157885705278859300E074-23625
chr157885705278859300E081-23625
chr157885705278859300E082-23625
chr157891174978913845E08228824
chr157893271878932860E08249793