openSNP | rs16969968

Links to SNPedia

Title	Summary
rs16969968 G/G	Normal
rs16969968 A/A	Higher risk for nicotine dependence, lower risk for cocaine dependence
rs16969968 A/G	Slightly higher risk for nicotine dependence, lower risk for cocaine dependence

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Vanessa Argondizo dos Santos	Glutamate and Synaptic Plasticity Systems and Smoking Behavior: Results from a Genetic Association Study	2012	1910
Kia J. Jackson	Nicotine Reward and Affective Nicotine Withdrawal Signs Are Attenuated in Calcium/Calmodulin-Dependent Protein Kinase IV Knockout Mice	2012	2170
Yufei Wang	Chromosome 15q25 (CHRNA3-CHRNA5) Variation Impacts Indirectly on Lung Cancer Risk	2011	4463
Zoraida Verde	‘Smoking Genes’: A Genetic Association Study	2011	7416
Devasena Anantharaman	Genetic Variants in Nicotine Addiction and Alcohol Metabolism Genes, Oral Cancer Risk and the Propensity to Smoke and Drink Alcohol: A Replication Study in India	2014	4310
Manav Kapoor	Variants Located Upstream of CHRNB4 on Chromosome 15q25.1 Are Associated with Age at Onset of Daily Smoking and Habitual Smoking	2012	3341
Robert P. Young	Individual and Cumulative Effects of GWAS Susceptibility Loci in Lung Cancer: Associations after Sub-Phenotyping for COPD	2011	5781
Ewa Jaworowska	Smoking Related Cancers and Loci at Chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish Population	2011	3175
Annabella Di Giorgio	DRD2/CHRNA5 Interaction on Prefrontal Biology and Physiology during Working Memory	2014	3689
John D. Eicher	Associations of Prenatal Nicotine Exposure and the Dopamine Related Genes ANKK1 and DRD2 to Verbal Language	2013	2940
Lin Zhao	The Association between ATM IVS 22-77 T>C and Cancer Risk: A Meta-Analysis	2012	2796
Glenn A. Doyle	In Vitro and Ex Vivo Analysis of CHRNA3 and CHRNA5 Haplotype Expression	2011	3041
Firdaus A. A. Mohamed Hoesein	Variants in the 15q24/25 Locus Associate with Lung Function Decline in Active Smokers	2013	2285
Zsofia Banlaki	Polymorphism in the Serotonin Receptor 2a (HTR2A) Gene as Possible Predisposal Factor for Aggressive Traits	2015	3989
Yun Zhu	Joint Association of Nicotinic Acetylcholine Receptor Variants with Abdominal Obesity in American Indians: The Strong Heart Family Study	2014	1914
Tetyana Zayats	A Complex Interplay between Personality Domains, Marital Status and a Variant in CHRNA5 on the Risks of Cocaine, Nicotine Dependences and Cocaine-Induced Paranoia	2013	1838
Huiping Zhang	Profiling of Childhood Adversity-Associated DNA Methylation Changes in Alcoholic Patients and Healthy Controls	2013	2510
Neil Caporaso	Genome-Wide and Candidate Gene Association Study of Cigarette Smoking Behaviors	2009	16293
Nancy L. Saccone	Multiple Independent Loci at Chromosome 15q25.1 Affect Smoking Quantity: a Meta-Analysis and Comparison with Lung Cancer and COPD	2010	14037
Robert B. Weiss	A Candidate Gene Approach Identifies the CHRNA5-A3-B4 Region as a Risk Factor for Age-Dependent Nicotine Addiction	2008	15480
Robert P. Young	Lung Cancer Susceptibility Model Based on Age, Family History and Genetic Variants	2009	10599
Yang Wang	Association of CHRNA5-A3-B4 Variation with Esophageal Squamous Cell Carcinoma Risk and Smoking Behaviors in a Chinese Population	2013	1844
Jen-Chyong Wang	Cis-Regulatory Variants Affect CHRNA5 mRNA Expression in Populations of African and European Ancestry	2013	1749
Sreekumar G. Pillai	A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci	2009	25613
Sarah J. Lewis	Smoking Is Associated with, but Does Not Cause, Depressed Mood in Pregnancy – A Mendelian Randomization Study	2011	3006
Susmita Chatterjee	The α5 Subunit Regulates the Expression and Function of α4*-Containing Neuronal Nicotinic Acetylcholine Receptors in the Ventral-Tegmental Area	2013	2279
Jian Wang	Method for Evaluating Multiple Mediators: Mediating Effects of Smoking and COPD on the Association between the CHRNA5-A3 Variant and Lung Cancer Risk	2012	5490
Simona E. Budulac	Nicotinic Acetylcholine Receptor Variants Are Related to Smoking Habits, but Not Directly to COPD	2012	2928
Mingliang Gu	Strong Association between Two Polymorphisms on 15q25.1 and Lung Cancer Risk: A Meta-Analysis	2012	3090
Tung-Sung Tseng	Role of Nicotine Dependence on the Relationship between Variants in the Nicotinic Receptor Genes and Risk of Lung Adenocarcinoma	2014	3499
Kai Cui	Four SNPs in the CHRNA3/5 Alpha-Neuronal Nicotinic Acetylcholine Receptor Subunit Locus Are Associated with COPD Risk Based on Meta-Analyses	2014	1825
Amy E. Taylor	Stratification by Smoking Status Reveals an Association of CHRNA5-A3-B4 Genotype with Body Mass Index in Never Smokers	2014	3902
Amy C. Janes	An Increase in Tobacco Craving Is Associated with Enhanced Medial Prefrontal Cortex Network Coupling	2014	1676
Ming D. Li	Associations of Variants in CHRNA5/A3/B4 Gene Cluster with Smoking Behaviors in a Korean Population	2010	4156
Gabe Haller	Functional Characterization Improves Associations between Rare Non-Synonymous Variants in CHRNB4 and Smoking Behavior	2014	978
Rachel F. Tyndale	Lack of Associations of CHRNA5-A3-B4 Genetic Variants with Smoking Cessation Treatment Outcomes in Caucasian Smokers despite Associations with Baseline Smoking	2015	1611
Brooke Sadler	Positive Selection on Loci Associated with Drug and Alcohol Dependence	2015	2179
Yalei Zhang	Chromosome 15q25 (CHRNA3-CHRNB4) Variation Indirectly Impacts Lung Cancer Risk in Chinese Males	2016	1431
Suzanne H. Gage	G = E: What GWAS Can Tell Us about the Environment	2016	8297

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
J C Wang	Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.	2009	13	10.1038/mp.2008.42
Young R P	GWAS SNPs in lung cancer are confounded by the COPD subphenotype	2010	1	-
Sarah M Hartz	Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers.	2012	1	10.1001/archgenpsychiatry.2012.124
Young R.P.	GWAS SNPs in lung cancer are confounded by the COPD subphenotype	2010	1
Marcus R Munafò	Association between genetic variants on chromosome 15q25 locus and objective measures of tobacco exposure.	2012	1	10.1093/jnci/djs191
L.-S. Chen	Interplay of genetic risk factors and parent monitoring in risk for nicotine dependence	2009	5	10.1111/j.1360-0443.2009.02697.x
Itzel Calleja-Macias	Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia	2012	2	10.1016/j.lfs.2012.02.015
R P Young	Lung cancer gene associated with COPD: triple whammy or possible confounding effect?	2008	10	10.1183/09031936.00093908
Jenni Hällfors	Scrutiny of the CHRNA5-CHRNA3-CHRNB4 smoking behavior locus reveals a novel association with alcohol use in a Finnish population based study.	2013	1
I Calleja-Macias	Association of single nucleotide polymorphisms of nicotinic acetylcholine receptor subunits with cervical neoplasia	2012	1	10.1016/j.lfs.2012.02.015
B. Corradini	Genetic variants related to nicotine dependence	2011	4	10.1016/j.fsigss.2011.09.106
Ryan M Smith	Nicotinic α5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms.	2011	1
Ming Li	Detecting genetic interactions for quantitative traits with U-statistics.	2011	16	10.1002/gepi.20594
Anne Tammim??ki	Impact of human D398N single nucleotide polymorphism on intracellular calcium response mediated by ??3??4??5 nicotinic acetylcholine receptors	2012	7	10.1016/j.neuropharm.2012.07.022
Dan Chen	A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers.	2011	1	-
Laura Jean Bierut	Convergence of genetic findings for nicotine dependence and smoking related diseases with chromosome 15q24-25.	2010	13	-
Nancy L Saccone	In search of causal variants: refining disease association signals using cross-population contrasts	2008	18	10.1186/1471-2156-9-58
Nancy L Saccone	Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD.	2010	43	10.1371/journal.pgen.1001053
R P Young	Lung cancer gene associated with COPD: triple whammy or possible confounding effect?	2008	7	10.1183/09031936.00093908
DA Macqueen	Variation in the α 5 nicotinic acetylcholine receptor subunit gene predicts cigarette smoking intensity as a function of nicotine content.	2013	1	10.1038/tpj.2012.50
Eric O Johnson	Peer smoking and the nicotinic receptor genes: an examination of genetic and environmental risks for nicotine dependence.	2010	13	10.1111/j.1360-0443.2010.03074.x
Laura Jean Bierut	Convergence of genetic findings for nicotine dependence and smoking related diseases with chromosome 15q24-25	2010	18	10.1016/j.tips.2009.10.004
Richard A Grucza	A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence.	2008	6	-
Ryan M Smith	Nicotinic α5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms.	2011	10	-
Sarah H Stephens	Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking.	2013	3	10.1002/gepi.21760
Chad A Bousman	Alpha-5 and -3 nicotinic receptor gene variants predict nicotine dependence but not cessation: Findings from the COMMIT cohort.	2012	12	10.1002/ajmg.b.32019
Nancy L. Saccone	Multiple independent loci at chromosome 15q25.1 affect smoking quantity: A meta-analysis and comparison with lung cancer and COPD	2010	56	10.1371/journal.pgen.1001053
Ping Li	Functional characterization of the α5(Asn398) variant associated with risk for nicotine dependence in the α3β4α5 nicotinic receptor.	2011	1	10.1124/mol.111.073841
Ming Li	Detecting genetic interactions for quantitative traits with U-statistics.	2011	17	10.1002/gepi.20594
Lindsay A Farrer	Childhood Adversity Increases Risk for Nicotine Dependence and Interacts with α5 Nicotinic Acetylcholine Receptor Genotype Specifically in Males	2012	7	10.1038/npp.2011.240
Nancy L Saccone	The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.	2009	15	10.1158/0008-5472.CAN-09-0786
Dan Chen	A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers.	2011	1	-
Eric O Johnson	Genetic and environmental contributions to nicotine, alcohol and cannabis dependence in male twins.	2010	6	10.1111/j.1360-0443.2010.03074.x
Yalu Wen	A bivariate mann-whitney approach for unraveling genetic variants and interactions contributing to comorbidity.	2013	2	10.1002/gepi.21709
Andrew A George	Function of Human alpha3beta4alpha5 Nicotinic Acetylcholine Receptors is Reduced by the alpha5(Asp398Asn) Variant	2012	6	10.1074/jbc.M112.379339
Kyle M Walsh	Fine-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.	2013	4	10.1158/1055-9965.EPI-12-1007-T
Jean-François Etter	Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence.	2009	8	-
Tetyana Zayats	A complex interplay between personality domains, marital status and a variant in CHRNA5 on the risks of cocaine, nicotine dependences and cocaine-induced paranoia.	2013	3	10.1371/journal.pone.0049368
P Li	Functional characterization of the alpha5(Asn398) variant associated with risk for nicotine dependence in the alpha3beta4alpha5 nicotinic receptor	2011	2	10.1124/mol.111.073841
Chad a Bousman	Alpha-5 and -3 nicotinic receptor gene variants predict nicotine dependence but not cessation: findings from the COMMIT cohort.	2012	16	10.1002/ajmg.b.32019
Ruth Djaldetti	Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: Gene and smoking status interaction	2012	6	10.1016/j.parkreldis.2012.07.007
Loïc Le Marchand	Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine.	2008	10	-
Esther H Lips	Association between a 15q25 gene variant, smoking quantity and tobacco-related cancers among 17 000 individuals	2010	14	10.1093/ije/dyp288
Lior Greenbaum	Association of nicotine dependence susceptibility gene, CHRNA5, with Parkinson's disease age at onset: Gene and smoking status interaction.	2012	5	10.1016/j.parkreldis.2012.07.007
Adriana Lori	The galanin receptor 1 gene associates with tobacco craving in smokers seeking cessation treatment.	2011	8	10.1038/npp.2011.25
A Tammimaki	Impact of human D398N single nucleotide polymorphism on intracellular calcium response mediated by alpha3beta4alpha5 nicotinic acetylcholine receptors	2012	3	10.1016/j.neuropharm.2012.07.022
J C Wang	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5	2009	1	-
Sarah M Hartz	Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers	2012	3
DA Macqueen	Variation in the α 5 nicotinic acetylcholine receptor subunit gene predicts cigarette smoking intensity as a function of nicotine content.	2013	2	10.1038/tpj.2012.50
Helen M Hansen	Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans.	2010	2	10.1093/hmg/ddq268
Nancy L Saccone	The CHRNA5-CHRNA3-CHRNB4 nicotinic receptor subunit gene cluster affects risk for nicotine dependence in African-Americans and in European-Americans.	2009	13	-
L S Chen	Interplay of genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and cessation treatments in smoking cessation success	2012	16	1169679 [pii]\n10.1176/appi.ajp.2012.11101545 [doi]
C Morel	Nicotine consumption is regulated by a human polymorphism in dopamine neurons.	2013	7	10.1038/mp.2013.158
Li-Shiun Chen	Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25.	2012	4	10.1002/gepi.21627
Maiken E Gabrielsen	Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway.	2013	3	10.1038/ejhg.2013.26
L E Hong	A CHRNA5 allele related to nicotine addiction and schizophrenia	2011	1	-
Glenn A. Doyle	In Vitro and Ex Vivo analysis of CHRNA3 and CHRNA5 haplotype expression	2011	8	10.1371/journal.pone.0023373
Richard Sherva	Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes.	2010	7	10.1038/npp.2010.64
Richard A. Grucza	A Risk Allele for Nicotine Dependence in CHRNA5 Is a Protective Allele for Cocaine Dependence	2008	13	10.1016/j.biopsych.2008.04.018
Richard A Grucza	Incorporating age at onset of smoking into genetic models for nicotine dependence: evidence for interaction with multiple genes.	2010	7	10.1111/j.1369-1600.2010.00220.x
Richard A Grucza	A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence.	2008	11	10.1016/j.biopsych.2008.04.018
Andrew a George	Function of human α3β4α5 nicotinic acetylcholine receptors is reduced by the α5(D398N) variant.	2012	6	10.1074/jbc.M112.379339
L E Hong	A CHRNA5 allele related to nicotine addiction and schizophrenia.	2011	16	10.1111/j.1601-183X.2011.00689.x
R A Grucza	A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence	2008	1	-
R A Grucza	A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence	2008	1	-
Sean P. David	Association between CHRNA5 genetic variation at rs16969968 and brain reactivity to smoking images in nicotine dependent women	2012	9	10.1016/j.drugalcdep.2011.06.009
D Chen	A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers.	2011	7	10.1158/1055-9965.EPI-10-1008
Amy C Janes	Association between CHRNA5 genetic variation at rs16969968 and brain reactivity to smoking images in nicotine dependent women.	2012	8	10.1016/j.drugalcdep.2011.06.009
R Sherva	Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes	2010	2	npp201064 [pii]\r10.1038/npp.2010.64 [doi]
Richard Sherva	Association 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	2008	12	10.1111/j.1360-0443.2008.02279.x
J C Wang	Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence	2009	3	10.1038/mp.2008.42
Santiago Rodriguez	Combined analysis of CHRNA5, CHRNA3 and CYP2A6 in relation to adolescent smoking behaviour.	2011	3	10.1177/0269881111405352
T Truong	Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium	2010	1	-
Helen M Hansen	Fine mapping of chromosome 15q25.1 lung cancer susceptibility in African-Americans.	2010	1	10.1093/hmg/ddq268
Jen Chyong Wang	Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry	2013	2	10.1371/journal.pone.0080204
Amy C. Janes	Association between CHRNA5 genetic variation at rs16969968 and brain reactivity to smoking images in nicotine dependent women	2012	9	10.1016/j.drugalcdep.2011.06.009
Laura Jean Bierut	Convergence of genetic findings for nicotine dependence and smoking related diseases with chromosome 15q24-25.	2010	16	10.1016/j.tips.2009.10.004
A A George	Function of human alpha3beta4alpha5 nicotinic acetylcholine receptors is reduced by the alpha5(D398N) variant	2012	1	10.1074/jbc.M112.379339
K Wojas-Krawczyk	The polymorphism of the CHRNA5 gene and the strength of nicotine addiction in lung cancer and COPD patients	2012	0	10.1097/CEJ.0b013e32834c9b40
Li-Shiun Chen	Smoking and genetic risk variation across populations of European, Asian, and African American ancestry--a meta-analysis of chromosome 15q25.	2012	7	10.1002/gepi.21627
L E Hong	A CHRNA5 allele related to nicotine addiction and schizophrenia.	2011	11	10.1111/j.1601-183X.2011.00689.x
Richard Sherva	Variation in Nicotinic Acetylcholine Receptor Genes is Associated with Multiple Substance Dependence Phenotypes	2010	1	10.1038/npp.2010.64
Nancy L Saccone	Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.	2009	10	-
Andrew a George	Function of human α3β4α5 nicotinic acetylcholine receptors is reduced by the α5(D398N) variant.	2012	5	10.1074/jbc.M112.379339
Maiken E Gabrielsen	Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway.	2013	6	10.1038/ejhg.2013.26
L S Chen	Interplay of genetic risk factors and parent monitoring in risk for nicotine dependence	2009	5	10.1111/j.1360-0443.2009.02697.x
Kyle M Walsh	Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans.	2012	1
Tetyana Zayats	A complex interplay between personality domains, marital status and a variant in CHRNA5 on the risks of cocaine, nicotine dependences and cocaine-induced paranoia.	2013	6	10.1371/journal.pone.0049368
Kouya Shiraishi	Contribution of nicotine acetylcholine receptor polymorphisms to lung cancer risk in a smoking-independent manner in the Japanese.	2009	6	-
D A Draffin	Points from Letters: Histamine Desensitization in Ménière's Disease	1949	0	-
L S Chen	Interplay of genetic risk factors and parent monitoring in risk for nicotine dependence	2009	1	-
J C Wang	Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5	2009	1	-
J C Wang	Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.	2009	15	-
Adriana Lori	The galanin receptor 1 gene associates with tobacco craving in smokers seeking cessation treatment.	2011	2	-
Pingxing Xie	Childhood Adversity Increases Risk for Nicotine Dependence and Interacts with α5 Nicotinic Acetylcholine Receptor Genotype Specifically in Males.	2011	5	10.1038/npp.2011.240
R Sherva	Variation in nicotinic acetylcholine receptor genes is associated with multiple substance dependence phenotypes	2010	1	npp201064 [pii]\r10.1038/npp.2010.64 [doi]
Tae-Hwi Schwantes-An	Interpreting joint SNP analysis results: when are two distinct signals really two distinct signals?	2013	4	10.1002/gepi.21712
Andrew a George	Function of Human α3β4α5 Nicotinic Acetylcholine Receptors is Reduced by the α5(Asp398Asn) Variant.	2012	1	10.1074/jbc.M112.379339
R M Smith	Nicotinic alpha5 receptor subunit mRNA expression is associated with distant 5' upstream polymorphisms	2011	4	ejhg2010120 [pii]\r10.1038/ejhg.2010.120 [doi]
Beata Biernacka	The polymorphism of the CHRNA5 gene and the strength of nicotine addiction in lung cancer and COPD patients	2012	5	10.1097/CEJ.0b013e32834c9b40

Evidence compiled by the Personal Genome Project

Gene	Impact	Trait	Summary	Inheritance
CHRNA5	Insufficiently evaluated pathogenic		Associated with early onset addiction to nicotine and with susceptibility to lung cancer.	unknown

Publications listed by Genome.gov

There are no results from genome.gov yet. Please come back later.

Users who share this SNP:

Couscous Nomad

10.06.2013 22:53

Homozygous genotype and none smoker here !

Name	rs16969968
Chromosome	15
Position	78590583
Weight of evidence	220

SNP rs16969968

Basic Information

Genotype Frequency

Allele Frequency

Additional Information