openSNP | rs671

SNP rs671

Basic Information

Name	rs671
Chromosome	12
Position	111803962
Weight of evidence	181

Links to SNPedia

Title	Summary
rs671 G/G	Alcohol flush: normal, doesn't flush. normal hangovers. normal risk of alcoholism. normal risk of esophageal cancer. disulfiram is effective for alcoholism.
rs671 A/A	Asian flusher; increased risk of esophageal cancer; east asian ancestry; disulfiram not effective for alcoholism.
rs671 A/G	Asian flush; worse hangovers; increased risk of esophageal cancer; east asian ancestry; disulfiram probably not effective for alcoholism.

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
Pongsakorn Wangkumhang	Insight into the Peopling of Mainland Southeast Asia from Thai Population Genetic Structure	2013	8980
Shiu Lun Au Yeung	Moderate Alcohol Use and Cardiovascular Disease from Mendelian Randomization	2013	4196
Desiree C. Petersen	Complex Patterns of Genomic Admixture within Southern Africa	2013	14195
James D. McKay	A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium	2011	11788
Hua Zhao	Meta-Analysis of the Aldehyde Dehydrogenases-2 (ALDH2) Glu487Lys Polymorphism and Colorectal Cancer Risk	2014	2353
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
Shen-Chih Chang	Single Nucleotide Polymorphisms of One-Carbon Metabolism and Cancers of the Esophagus, Stomach, and Liver in a Chinese Population	2014	2748
He-Ling Wang	ALDH2 and ADH1 Genetic Polymorphisms May Contribute to the Risk of Gastric Cancer: A Meta-Analysis	2014	4188
Xiaoyi Cui	Evaluation of Genetic Polymorphisms in Patients with Multiple Chemical Sensitivity	2013	5596
Christopher A. Haiman	Genome-Wide Testing of Putative Functional Exonic Variants in Relationship with Breast and Prostate Cancer Risk in a Multiethnic Population	2013	9202
Chih-Yung Yang	Single Nucleotide Polymorphisms Associated with Colorectal Cancer Susceptibility and Loss of Heterozygosity in a Taiwanese Population	2014	2459
Andreas Helminen	ALDH2 Genotype Has No Effect on Salivary Acetaldehyde without the Presence of Ethanol in the Systemic Circulation	2013	2184
Mian Li	Genetic Variants on Chromosome 8q24 and Colorectal Neoplasia Risk: A Case-Control Study in China and a Meta-Analysis of the Published Literature	2011	3407
Yao Xue	ADH1C Ile350Val Polymorphism and Cancer Risk: Evidence from 35 Case–Control Studies	2012	3106
Li Zhou	A Genome Wide Association Study Identifies Common Variants Associated with Lipid Levels in the Chinese Population	2013	4292
Heng Yang	The ALDH2 rs671 Polymorphism Affects Post-Stroke Epilepsy Susceptibility and Plasma 4-HNE Levels	2014	2607
Lina Zhang	Genotyping on ALDH2: Comparison of Four Different Technologies	2015	3202
Lin Xu	Alcohol Use and Gamma-Glutamyltransferase Using a Mendelian Randomization Design in the Guangzhou Biobank Cohort Study	2015	2263
Qiang Cai	Association between Glu504Lys Polymorphism of ALDH2 Gene and Cancer Risk: A Meta-Analysis	2015	2078
Ryuhei Maejima	Effects of ALDH2 Genotype, PPI Treatment and L-Cysteine on Carcinogenic Acetaldehyde in Gastric Juice and Saliva after Intragastric Alcohol Administration	2015	5018
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
Xiaoling Xu	Impact of Alcohol Dehydrogenase Gene 4 Polymorphisms on Esophageal Squamous Cell Carcinoma Risk in a Chinese Population	2015	1194
Yasuhiro Idewaki	Association of Genetically Determined Aldehyde Dehydrogenase 2 Activity with Diabetic Complications in Relation to Alcohol Consumption in Japanese Patients with Type 2 Diabetes Mellitus: The Fukuoka Diabetes Registry	2015	1674
Jihye Kim	No Interaction with Alcohol Consumption, but Independent Effect of C12orf51 (HECTD4) on Type 2 Diabetes Mellitus in Korean Adults Aged 40-69 Years: The KoGES_Ansan and Ansung Study	2016	2072
Fei Xing	Alteration of Antiviral Signalling by Single Nucleotide Polymorphisms (SNPs) of Mitochondrial Antiviral Signalling Protein (MAVS)	2016	2055
Yinyin Wu	Positive association between ALDH2 rs671 polymorphism and essential hypertension: A case-control study and meta-analysis	2017	1426
Yon Ho Jee	Alcohol Intake and Serum Glucose Levels from the Perspective of a Mendelian Randomization Design: The KCPS-II Biobank	2016	1414
Michael J. Way	Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study	2017	1351
Jeonghwan Lee	Genome-wide association analysis identifies multiple loci associated with kidney disease-related traits in Korean populations	2018	315
Yoko Kubo	Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers	2017	1052
Jo-Eun Jeong	The association between the nicotinic acetylcholine receptor α4 subunit gene (CHRNA4) rs1044396 and Internet gaming disorder in Korean male adults	2017	520
Ru-Band Lu	The aldehyde dehydrogenase 2 polymorphisms on neuropsychological performance in bipolar II disorder with or without comorbid anxiety disorder	2018	287
Hirotaka Shinomiya	Prognostic value of ALDH2 polymorphism for patients with oropharyngeal cancer in a Japanese population	2017	707
Akira Yokoyama	Alcohol abstinence and risk assessment for second esophageal cancer in Japanese men after mucosectomy for early esophageal cancer	2017	1383
Fumihiko Takeuchi	The fine-scale genetic structure and evolution of the Japanese population	2017	1817

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
Shiu Lun Au Yeung	Is aldehyde dehydrogenase 2 a credible genetic instrument for alcohol use in Mendelian randomization analysis in Southern Chinese men?	2013	6	10.1093/ije/dys221
A Tan	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population	2012	1	10.1093/hmg/ddr587
Zeliha Kayaaltı	Distribution of ADH1B, ALDH2, CYP2E1 6, and CYP2E1 7B genotypes in Turkish population.	2010	0
Ji Wan Park	Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans.	2009	5	10.3858/emm.2009.41.11.083
Lara A Ray	Pharmacogenetics of Naltrexone in Asian Americans: A Randomized Placebo-Controlled Laboratory Study	2012	9	10.1038/npp.2011.192
Hiroko Hoshi	Aldehyde-stress resulting from Aldh2 mutation promotes osteoporosis due to impaired osteoblastogenesis.	2012	5	10.1002/jbmr.1634
Miyuki Tsuchihashi-Makaya	Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population.	2009	1	10.1038/hr.2009.3
Keitaro Matsuo	Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese.	2011	5	10.1097/CEJ.0b013e32834c9be5
L A Ray	Pharmacogenetics of naltrexone in indivdiuals of east asian descent: Resutls from a human laboratory trial	2012	1
Huan Yang	Application of Crossover Analysis-logistic Regression in the Assessment of Gene- environmental Interactions for Colorectal Cancer	2012	1	10.7314/APJCP.2012.13.5.2031
Xueli Yang	Common variants at 12q24 are associated with drinking behavior in Han Chinese	2013	3	10.3945/ajcn.112.046482.Am
Aihua Tan	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.	2012	4	10.1093/hmg/ddr587
Dawei Li	Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians.	2012	7	10.1007/s00439-011-1116-4
Zeliha Kayaalti	Distribution of ADH1B, ALDH2, CYP2E16, and CYP2E17B genotypes in Turkish population	2010	2	10.1016/j.alcohol.2010.06.002
Ji Young Park	Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 null allele in a Japanese population.	2010	11	10.1093/carcin/bgq021
Yong Bae Ji	ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population	2011	4	10.1016/j.oraloncology.2011.04.007
Miki Watanabe	Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese	2012	6	10.1097/CEJ.0b013e32834c9be5
Hao Zhao	[Role of alcohol-metabolizing enzymes gene polymorphisms and environmental exposure on colorectal cancer: a case-only study].	2013	1	-
A Tan	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population	2012	3	10.1093/hmg/ddr587
Asuka Hira	Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.	2013	8	10.1182/blood-2013-06-507962
Ji Wan Park	Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans	2009	3	10.3858/emm.2009.41.11.083
Ri Cui	Functional Variants in ADH1B and ALDH2 Coupled With Alcohol and Smoking Synergistically Enhance Esophageal Cancer Risk	2009	20	10.1053/j.gastro.2009.07.070
Ming Wu	Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.	2013	2	10.1002/ijc.27803
Isao Oze	Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population.	2010	4	10.1111/j.1349-7006.2010.01599.x
Yi Jie Guo	The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels	2010	8	10.1016/j.atherosclerosis.2010.03.030
M Wu	Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China	2013	1	10.1002/ijc.27803
Ri Cui	Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.	2009	14	-
J W Park	Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans	2009	1
Suocheng Chen	A variant allele of ADH1B and ALDH2, is associated with the risk of esophageal cancer	2012	2	10.3892/etm.2012.547
Sofia Pavanello	Shortened telomeres in individuals with abuse in alcohol consumption.	2011	8	10.1002/ijc.25999
Ming Wu	Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: A population-based case-control study in China.	2012	2	10.1002/ijc.27803
Carlos Caso	A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain	2012	1	10.1016/j.alcohol.2012.03.003
Huan Yang	A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population.	2009	7	10.1158/1055-9965.EPI-09-0398
K Matsuo	The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcohol drinking in the risk of stomach cancer	2013	2	10.1093/carcin/bgt080
Shiu Lun Au Yeung	Is aldehyde dehydrogenase 2 a credible genetic instrument for alcohol use in Mendelian randomization analysis in Southern Chinese men?	2013	2	10.1093/ije/dys221
Aihua Tan	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.	2011	3	10.1093/hmg/ddr587
Fumiaki Tanaka	Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.	2010	6	-
Zeliha Kayaaltı	Distribution of ADH1B, ALDH2, CYP2E1 6, and CYP2E1 7B genotypes in Turkish population.	2010	4	10.1016/j.alcohol.2010.06.002
Takeshi Tomoda	Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study.	2011	1	10.1111/j.1440-1746.2011.06948.x
Junichiro Nose	Statistical analysis of the associations between polymorphisms within aldehyde dehydrogenase 2 (ALDH2), and quantitative and qualitative traits extracted from a large-scale database of Japanese single-nucleotide polymorphisms (SNPs).	2008	3	-
H. Minakami	Maternal folate, alcohol and energy metabolism-related gene polymorphisms and the risk of recurrent pregnancy loss	2012	3	10.1017/S2040174412000359
T. D. Miller	Water Relations of Field Grown Cotton and Sorghum: Temporal and Diurnal Changes in Leaf Water, Osmotic, and Turgor Potentials1	1977	2	10.2135/cropsci1977.0011183X001700010022x
Hongyu Zhao	Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians	2012	8	10.1007/s00439-011-1116-4
Lara A Ray	Pharmacogenetics of naltrexone in asian americans: a randomized placebo-controlled laboratory study.	2012	8	10.1038/npp.2011.192
Huan Yang	A novel polymorphism rs1329149 of CYP2E1 and a known polymorphism rs671 of ALDH2 of alcohol metabolizing enzymes are associated with colorectal cancer in a southwestern Chinese population.	2009	7	-
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
T Hasi	Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study.	2011	2	10.4238/vol10-1gmr1056
Sofia Pavanello	Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers	2012	5	10.1016/j.alcohol.2011.08.009
Hua Yuan	Genetic variants at 4q23 and 12q24 are associated with head and neck cancer risk in China.	2012	2	10.1002/mc.21929
Sofia Pavanello	Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers	2012	2	10.1016/j.alcohol.2011.08.009
Hongguang Han	Association of genetic polymorphisms in ADH and ALDH2 with risk of coronary artery disease and myocardial infarction: A meta-analysis	2013	2	10.1016/j.gene.2013.05.002
Hongguang Han	Association of genetic polymorphisms in ADH and ALDH2 with risk of coronary artery disease and myocardial infarction: A meta-analysis.	2013	1	10.1016/j.gene.2013.05.002
Asuka Hira	Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.	2013	1	10.1182/blood-2013-06-507962
Hiroko Hoshi	Aldehyde-stress resulting from Aldh2 mutation promotes osteoporosis due to impaired osteoblastogenesis.	2012	4	10.1002/jbmr.1634
Fumihiko Takeuchi	Confirmation of ALDH2 as a Major Locus of Drinking Behavior and of Its Variants Regulating Multiple Metabolic Phenotypes in a Japanese Population.	2011	1	-
L. S. Murphy	Desiccation of Grain Sorghum by Foliar Application of Nitrogen Solution1	1977	1	10.2134/agronj1977.00021962006900010009x
Junichiro Nose	Statistical analysis of the associations between polymorphisms within aldehyde dehydrogenase 2 (ALDH2), and quantitative and qualitative traits extracted from a large-scale database of Japanese single-nucleotide polymorphisms (SNPs).	2008	5	10.1007/s10038-008-0266-2
W S Zhang	Effect of alcohol and aldehyde dehydrogenase gene polymorphisms on alcohol-associated hypertension: the Guangzhou Biobank Cohort Study	2013	2	10.1038/hr.2013.23
Hongguang Han	Association of genetic polymorphisms in ADH and ALDH2 with risk of coronary artery disease and myocardial infarction: A meta-analysis.	2013	1	10.1016/j.gene.2013.05.002
Akira Yokoyama	Blood Ethanol Levels of Nonabstinent Japanese Alcoholic Men in the Morning After Drinking and Their ADH1B and ALDH2 Genotypes.	2013	3	10.1093/alcalc/agt136
K Matsuo	The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcohol drinking in the risk of stomach cancer	2013	2	bgt080 [pii] 10.1093/carcin/bgt080
Ming Wu	Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.	2013	1	10.1002/ijc.27803
Yi-Jie Guo	The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels.	2010	6	-
Yong Bae Ji	ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population.	2011	1	10.1016/j.oraloncology.2011.04.007
V.T.C. Chan	360 The Association of Chemotherapy-induced Thrombocytopaenia with CYP2C19 and ALDH2 Genetic Polymorphisms in Chinese Breast Cancer Patients	2012	3	10.1016/S0959-8049(12)70426-4
Y Qian	Association of a functional single-nucleotide polymorphism in the ALDH2 gene with essential hypertension depends on drinking behavior in a Chinese Han population	2012	3	10.1038/jhh.2012.15
Ji Young Park	Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 null allele in a Japanese population.	2010	7	-
K J Donnelly	Desiccation of Grain Sorghum by Foliar Application of Nitrogen Solution	1977	1	-
Aihua Tan	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.	2012	4	10.1093/hmg/ddr587
Ri Cui	Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.	2009	16	10.1053/j.gastro.2009.07.070
C-S Chung	Tag single nucleotide polymorphisms of alcohol-metabolizing enzymes modify the risk of upper aerodigestive tract cancers: HapMap database analysis.	2012	3	10.1111/j.1442-2050.2012.01437.x
Hiroko Hoshi	Aldehyde-stress resulting from Aldh2 mutation promotes osteoporosis due to impaired osteoblastogenesis.	2012	4	10.1002/jbmr.1634
Fumiaki Tanaka	Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles.	2010	6	10.1136/gut.2009.205724
Sofia Pavanello	Shortened telomeres in individuals with abuse in alcohol consumption.	2011	11	10.1002/ijc.25999
J W Park	Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans	2009	2	10.3858/emm.2009.41.11.083
Zeliha Kayaaltı	Distribution of ADH1B, ALDH2, CYP2E1∗6, and CYP2E1∗7B genotypes in Turkish population	2010	2	10.1016/j.alcohol.2010.06.002
Isao Oze	Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population.	2010	4	-
R C Ackerson	Water Relations of Field Grown Cotton and Sorghum: Temporal and Diurnal Changes in Leaf Water, Osmotic, and Turgor Potentials	1977	1	-
T Hasi	Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study.	2011	2	10.4238/vol10-1gmr1056
Y Wang	Association of a functional single-nucleotide polymorphism in the ALDH2 gene with essential hypertension depends on drinking behavior in a Chinese Han population	2013	3	10.1038/jhh.2012.15
A Tan	A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population	2011	1	10.1093/hmg/ddr587
Yi-Jie Guo	The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels.	2010	8	10.1016/j.atherosclerosis.2010.03.030
Toru Nagao	OP228: Elucidating risk factors for oral leukoplakia affecting gingivae among a Japanese population	2013	1	http://dx.doi.org/10.1016/j.oraloncology.2013.03.237
Miyuki Tsuchihashi-Makaya	Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population.	2009	1	-

Evidence compiled by the Personal Genome Project

Gene	Impact	Trait	Summary	Inheritance
ALDH2	Insufficiently evaluated pathogenic		-	unknown

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Takeuchi F	Genome-wide association study of coronary artery disease in the Japanese.	Eur J Hum Genet	10/05/2011	Coronary heart disease	2.0e-34	[1.35-1.51]
Okada Y	Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.	Nat Genet	07/15/2012	Renal function-related traits (sCR)	3.0e-10	[0.0031-0.0059] mg/dl increase
Cui R	Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.	Gastroenterology	08/18/2009	Esophageal cancer	3.0e-24	[1.58-1.76]
Takeuchi F	Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.	Circ J	03/01/2011	Drinking behavior	1.0e-100	[5.56-7.14]

SNP rs671

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