openSNP | rs1229984

Links to SNPedia

Title	Summary
rs1229984 A/G	0.56x decreased risk of oral/throat cancers
rs1229984 A/A	0.56x decreased risk of oral/throat cancers
rs1229984 G/G	Normal oral/throat cancer risk; more frequent alcohol consumption

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
Sarah J. Lewis	Fetal Alcohol Exposure and IQ at Age 8: Evidence from a Population-Based Birth-Cohort Study	2012	35421
Hui Li	Ethnic Related Selection for an ADH Class I Variant within East Asia	2008	8165
Yao Xue	ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case–Control Studies	2012	3106
Unhee Lim	Pleiotropy of Cancer Susceptibility Variants on the Risk of Non-Hodgkin Lymphoma: The PAGE Consortium	2014	2465
Mattias Johansson	Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4 - the AdAPT Method	2012	4317
Guohong Zhang	ADH1B Arg47His Polymorphism Is Associated with Esophageal Cancer Risk in High-Incidence Asian Population: Evidence from a Meta-Analysis	2010	3547
Marta Crous-Bou	Polymorphisms in Alcohol Metabolism Genes ADH1B and ALDH2, Alcohol Consumption and Colorectal Cancer	2013	5179
Yuefei Wang	Synergistic Association between Two Alcohol Metabolism Relevant Genes and Coronary Artery Disease among Chinese Hypertensive Patients	2014	1924
Debbie A. Lawlor	ADH1B and ADH1C Genotype, Alcohol Consumption and Biomarkers of Liver Function: Findings from a Mendelian Randomization Study in 58,313 European Origin Danes	2014	1013
Lise Lotte N. Husemoen	The Association of Alcohol and Alcohol Metabolizing Gene Variants with Diabetes and Coronary Heart Disease Risk Factors in a White Population	2010	5576
James D. McKay	A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium	2011	11788
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
Dagmar Drogan	Alcohol Consumption, Genetic Variants in Alcohol Deydrogenases, and Risk of Cardiovascular Diseases: A Prospective Study and Meta-Analysis	2012	4196
He-Ling Wang	ALDH2 and ADH1 Genetic Polymorphisms May Contribute to the Risk of Gastric Cancer: A Meta-Analysis	2014	4188
Akira Yokoyama	Alcohol Dehydrogenase-1B (rs1229984) and Aldehyde Dehydrogenase-2 (rs671) Genotypes Are Strong Determinants of the Serum Triglyceride and Cholesterol Levels of Japanese Alcoholic Men	2015	2417
Roy Ronen	Predicting Carriers of Ongoing Selective Sweeps without Knowledge of the Favored Allele	2015	2976
Xiaoling Xu	Impact of Alcohol Dehydrogenase Gene 4 Polymorphisms on Esophageal Squamous Cell Carcinoma Risk in a Chinese Population	2015	1194
Neelanjana Roy	Genetic Association and Gene-Gene Interaction Reveal Genetic Variations in ADH1B, GSTM1 and MnSOD Independently Confer Risk to Alcoholic Liver Diseases in India	2016	1776
Khanh N. Vu	Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study	2016	3667

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Byung Lae Park	Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.	2013	2	10.1007/s00439-013-1281-8
Stuart Macgregor	Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.	2009	18	10.1093/hmg/ddn372
X Marichalar-Mendia	Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study	2011	1	-
Hannah Bye	Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.	2011	7	10.1093/carcin/bgr211
A Linneberg	Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians.	2010	6	-
P Ferrari	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study	2012	1	-
Dawei Li	Strong Association of the Alcohol Dehydrogenase 1B Gene (ADH1B) with Alcohol Dependence and Alcohol-Induced Medical Diseases.	2011	7	-
Anne M Hakenewerth	Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.	2011	9	10.1158/1055-9965.EPI-11-0649
R Humphriss	Prenatal alcohol exposure and childhood balance ability: Findings from a UK birth cohort study.	2013	6	http://dx.doi.org/10.1136/bmjopen-2013-002718
M Hashibe	Multiple ADH genes are associated with upper aerodigestive cancers	2008	34	10.1038/ng.151
L Zuccolo	A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women	2009	1	-
Jacquelyn L Meyers	Childhood adversity moderates the effect of ADH1B on risk for alcohol-related phenotypes in Jewish Israeli drinkers.	2013	2	10.1111/adb.12102
Byung Lae Park	Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.	2013	1	10.1007/s00439-013-1281-8
Yong Gao	Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population.	2013	3	10.1007/s00439-013-1276-5
Xavier Muñoz	Association of alcohol dehydrogenase polymorphisms and lifestyle factors with excessive alcohol intake within the Spanish population	2012	4	10.1111/j.1360-0443.2012.03970.x
Elena García-Martín	Alcohol dehydrogenase 2 genotype and risk for migraine.	2010	6	10.1111/j.1526-4610.2009.01396.x
Ekin Ozgur Aktas	Determination of the effects of Alcohol Dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey	2012	3	10.1016/j.scijus.2011.05.002
Osvaldo P Almeida	Alcohol consumption and cognitive impairment in older men: A mendelian randomization study.	2014	3	10.1212/WNL.0000000000000255
Seif O. Shaheen	Prenatal alcohol exposure and childhood atopic disease: A Mendelian randomization approach	2014	5	10.1016/j.jaci.2013.04.051
Hikmet Hakan Aydin	Determination of the effects of Alcohol Dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey	2012	2	10.1016/j.scijus.2011.05.002
Dawei Li	Strong Association of the Alcohol Dehydrogenase 1B Gene (ADH1B) with Alcohol Dependence and Alcohol-Induced Medical Diseases.	2011	7	10.1016/j.biopsych.2011.02.024
L Zuccolo	A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women	2009	1	-
Guohong Zhang	ADH1B Arg47His Polymorphism Is Associated with Esophageal Cancer Risk in High-Incidence Asian Population: Evidence from a Meta-Analysis	2010	5	10.1371/journal.pone.0013679
Luisa Zuccolo	A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women	2009	9	10.1093/hmg/ddp388
Haipeng Guo	Alcohol Dehydrogenase-1B Arg47His Polymorphism and Upper Aerodigestive Tract Cancer Risk: A Meta-Analysis Including 24,252 Subjects.	2011	3	10.1111/j.1530-0277.2011.01621.x
Lise Lotte N Husemoen	The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.	2010	14	10.1371/journal.pone.0011735
Marta Crous-Bou	Polymorphisms in alcohol metabolism genes ADH1B and ALDH2, alcohol consumption and colorectal cancer	2013	2	10.1371/journal.pone.0080158
Seif O Shaheen	Prenatal alcohol exposure and childhood atopic disease: A Mendelian randomization approach.	2013	1	10.1016/j.jaci.2013.04.051
Lise Lotte N Husemoen	The Log-Structured Merge-Tree (LSM-Tree)	2010	1	10.1371/journal.pone.0011735
Xabier Marichalar-Mendia	Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study.	2011	1	-
P Ferrari	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study.	2012	8	10.1038/ejcn.2012.173
J D McKay	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium	2011	1	10.1371/journal.pgen.1001333
R Toth	Combined effect of ADH1B RS1229984, RS2066702 and ADH1C RS1693482/ RS698 alleles on alcoholism and chronic liver diseases	2011	3	10.3233/DMA-2011-0828
James D McKay	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	2011	20	10.1371/journal.pgen.1001333
I Oze	Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population	2009	2	10.1158/1055-9965.epi-09-0499
Xabier Marichalar-Mendia	Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study.	2011	2
Ming Wu	Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.	2013	3	10.1002/ijc.27803
Hannah Bye	Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.	2011	9	10.1093/carcin/bgr211
A. M. Hakenewerth	Joint Effects of Alcohol Consumption and Polymorphisms in Alcohol and Oxidative Stress Metabolism Genes on Risk of Head and Neck Cancer	2011	12	10.1158/1055-9965.EPI-11-0649
Ciliares No	ESTRUTURAL DE REFLORESTAMENTOS DE RESTAURAÇÃO DE MATAS CROWN COVER AS INDICATOR OF STRUCTURAL DEVELOPMENT OF RIPARIAN AREAS RESTORATION IN THE MID-PARANAPANEMA VALLEY	2007	19	10.1590/S0100-67622007000200015
Haipeng Guo	Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects.	2012	4	10.1111/j.1530-0277.2011.01621.x
G. CADONI	A review of genetic epidemiology of head and neck cancer related to polymorphisms in metabolic genes, cell cycle control and alcohol metabolism	2012	9
James D McKay	A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium	2011	1
P Ferrari	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study.	2012	7	10.1038/ejcn.2012.173
Haipeng Guo	Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects.	2012	5	10.1111/j.1530-0277.2011.01621.x
Guohong Zhang	Adh1b Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian population: Evidence from a meta-analysis	2010	6	10.1371/journal.pone.0013679
Elena García-Martín	Alcohol dehydrogenase 2 genotype and risk for migraine.	2010	5	-
Bo Ye	Genetic Variant of Single-Nucleotide Polymorphism Is Associated with Risk of Esophageal Squamous Cell Carcinoma.	2014	1	-
R Humphriss	Prenatal alcohol exposure and childhood balance ability: Findings from a UK birth cohort study.	2013	3	http://dx.doi.org/10.1136/bmjopen-2013-002718
Luisa Zuccolo	Prenatal alcohol exposure and offspring cognition and school performance. A 'Mendelian randomization' natural experiment.	2013	6	10.1093/ije/dyt172
Bo Ye	Genetic Variant of Single-Nucleotide Polymorphism Is Associated with Risk of Esophageal Squamous Cell Carcinoma.	2013	1	10.1089/gtmb.2013.0336
Guohong Zhang	ADH1B Arg47His polymorphism is associated with esophageal cancer risk in high-incidence Asian population: evidence from a meta-analysis.	2010	5	10.1371/journal.pone.0013679
P Ferrari	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study	2012	1	-
Luisa Zuccolo	A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women.	2009	12	10.1093/hmg/ddp388
L J Bierut	ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry.	2011	6	10.1038/mp.2011.124
J D McKay	A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium.	2011	2	10.1371/journal.pgen.1001333
L Zuccolo	A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women	2009	1	-
Reka Toth	ADH1B*2 allele is protective against alcoholism but not chronic liver disease in the Hungarian population.	2010	3	10.1111/j.1360-0443.2009.02876.x
Isao Oze	Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population.	2009	7	10.1158/1055-9965.EPI-09-0499
P Ferrari	Alcohol dehydrogenase and aldehyde dehydrogenase gene polymorphisms, alcohol intake and the risk of colorectal cancer in the European Prospective Investigation into Cancer and Nutrition study.	2012	4	10.1038/ejcn.2012.173
Akira Yokoyama	Alcohol dehydrogenase-1B genotype (rs1229984) is a strong determinant of the relationship between body weight and alcohol intake in Japanese alcoholic men.	2013	2	10.1111/acer.12069
Jacquelyn L Meyers	Alcohol-Metabolizing Genes and Alcohol Phenotypes in an Israeli Household Sample.	2013	1	-
James D. McKay	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium	2011	26	10.1371/journal.pgen.1001333
O P Almeida	The triangular association of ADH1B genetic polymorphism, alcohol consumption and the risk of depression in older men.	2013	2	10.1038/mp.2013.117
Jenny H D A van Beek	Associations between ADH gene variants and alcohol phenotypes in Dutch adults.	2010	2	10.1375/twin.13.1.30
Mia Hashibe	Multiple ADH genes are associated with upper aerodigestive cancers.	2008	35	10.1038/ng.151
Byung Lae Park	Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.	2013	1	10.1007/s00439-013-1281-8
Reka Toth	ADH1B*2 allele is protective against alcoholism but not chronic liver disease in the Hungarian population.	2010	3	-
N L Saccone	ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry	2012	6	10.1038/mp.2011.124

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Cui R	Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.	Gastroenterology	08/18/2009	Esophageal cancer	8.0e-24	[1.69-1.88]
McKay JD	A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.	PLoS Genet	03/17/2011	Upper aerodigestive tract cancers	1.0e-20	[1.41-1.69]

Name	rs1229984
Chromosome	4
Position	99318162
Weight of evidence	126

SNP rs1229984

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts