{{Rsnum
|rsid=671
|Gene=ALDH2
|Chromosome=12
|position=111803962
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.05739
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ALDH2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 2.9 | 26.5 | 70.6
| JPT | 4.4 | 35.4 | 60.2
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.9 | 26.5 | 70.6
| CHD | 6.4 | 39.4 | 54.1
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 3.4 | 96.6
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[rs671]] is a classic SNP, well known in a sense through the phenomena known as the "alcohol flush", also known as the "Asian Flush" or "Asian blush", in which certain individuals, often of Asian descent, have their face, neck and sometimes shoulders turn red after drinking alcohol.{{PMID|6582480|OA=1
}}

The [[rs671]](A) allele of the [[ALDH2]] gene is the culprit, in that it encodes a form of the aldehyde dehydrogenase 2 protein that is defective at metabolizing alcohol. This allele is known as the ALDH*2 form, and individuals possessing either one or two copies of it show alcohol-related sensitivity responses including facial flushing, and severe hangovers (and hence they are usually not regular drinkers). Perhaps not surprisingly they appear to suffer less from alcoholism and alcohol-related liver disease. [PMID 511165, PMID 16046871] 

[[Disulfiram]] (Antabuse) is probably an ineffective treatment for [[alcohol dependence]] in people who have the Asian Flush. 

Tests for the alcohol flush reaction at [[deCODEme]] are based on [[rs671]].

[http://blog.23andme.com/2009/03/24/researchers-warn-that-physicians-need-to-ask-about-alcohol-%E2%80%9Cflushing%E2%80%9D-to-reduce-esophageal-cancer-risk/ 23andMe blog] carriers of the A allele are prone to [[esophageal cancer]], which is also known as upper aerodigestive tract (UAT) [[cancer]], due to acetaldehyde from [[smoking]].
{{omim
|desc=ALCOHOL SENSITIVITY, ACUTE
|id=100650
|quiet=1
|rsnum=671
|variant=0001
}}

{{PMID Auto
|PMID=19698717
|Title=Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk
}}
{{PMID Auto
|PMID=19706845
|Title=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
}}

{{PMID Auto
|PMID=20093384
|Title=Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 (ALDH2) null allele in a Japanese population
}}

{{PMID Auto
|PMID=19641380
|Title=Candidate gene polymorphisms for diabetes mellitus, cardiovascular disease and cancer are associated with longevity in Koreans
|OA=1
}}

{{PMID Auto GWAS
|PMID=20139978
|Trait=Hematological and biochemical traits
|Title=Genome-wide association study of hematological and biochemical traits in a Japanese population
|RiskAllele=A
|Pval=7E-10
|OR=0.26
|ORtxt=[NR] % variance
}}
{{PMID Auto
|PMID=20833657
|Title=Strong interaction between the effects of alcohol consumption and smoking on oesophageal squamous cell carcinoma among individuals with ADH1B and/or ALDH2 risk alleles
}}

{{PMID Auto
|PMID=21372407
|Title=Confirmation of ALDH2 as a Major Locus of Drinking Behavior and of Its Variants Regulating Multiple Metabolic Phenotypes in a Japanese Population
}}

{{PMID Auto
|PMID=21476199
|Title=Acetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study
}}

{{PMID Auto
|PMID=22102315
|Title=Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians
|OA=1
}}

{{PMID Auto GWAS
|PMID=22171074
|Trait=None
|Title=A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
|RiskAllele=
|Pval=0.000002
|OR=None
|ORtxt=None
}}

{{PMID Auto GWAS
|PMID=21971053
|Trait=None
|Title=Genome-wide association study of coronary artery disease in the Japanese.
|RiskAllele=A
|Pval=2E-34
|OR=1.4300
|ORtxt=[1.35-1.51]
|OA=1
}}

{{PMID Auto GWAS
|PMID=22286173
|Trait=None
|Title=Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
|RiskAllele=C
|Pval=0.000003
|OR=1.2400
|ORtxt=None
}}

{{PMID Auto
|PMID=22508505
|Title=Aldehyde-stress resulting from Aldh2 mutation promotes osteoporosis due to impaired osteoblastogenesis
}}

{{PMID Auto
|PMID=22551939
|Title=Association of a functional single-nucleotide polymorphism in the ALDH2 gene with essential hypertension depends on drinking behavior in a Chinese Han population
}}

{{ClinVar
|rsid=671
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=112241766
|CHROM=12
|GMAF=0.0572
|dbSNPBuildID=36
|SSR=0
|SAO=0
|VP=0x050368000000150517130100
|GENEINFO=ALDH2:217
|GENE_NAME=ALDH2
|GENE_ID=217
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.112241766G>A
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=100650.0001
|CLNSIG=255
|CLNCUI=CN028882
|CLNDBN=Alcohol sensitivity, acute; Alcohol dependence; Susceptibility to hangover; Sublingual nitroglycerin, susceptibility to poor response to; ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO
|Disease=Alcohol sensitivity; Alcohol dependence; Susceptibility to hangover; Sublingual nitroglycerin; ESOPHAGEAL CANCER
|CLNACC=RCV000020058.1; RCV000020059.1; RCV000020060.1; RCV000020061.1; RCV000020062.1
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9426; 0.05739
|CLNDSDB=MedGen:OMIM; MedGen
|CLNDSDBID=CN028882:103780; C2608086; C2676227
|COMMON=1
}}

{{PMID Auto
|PMID=18317873
|Title=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).
}}

{{PMID Auto
|PMID=18331377
|Title=Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.
|OA=1
}}

{{PMID Auto
|PMID=18996923
|Title=Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.
|OA=1
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|OA=1
}}

{{PMID Auto
|PMID=19262484
|Title=Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population.
}}

{{PMID Auto
|PMID=20417517
|Title=The ALDH2 Glu504Lys polymorphism is associated with coronary artery disease in Han Chinese: Relation with endothelial ADMA levels.
}}

{{PMID Auto
|PMID=20518787
|Title=Comparison between self-reported facial flushing after alcohol consumption and ALDH2 Glu504Lys polymorphism for risk of upper aerodigestive tract cancer in a Japanese population.
}}

{{PMID Auto
|PMID=20616999
|Title=Usefulness of Mendelian randomization in observational epidemiology.
|OA=1
}}

{{PMID Auto
|PMID=21351086
|Title=Shortened telomeres in individuals with abuse in alcohol consumption.
|OA=1
}}

{{PMID Auto
|PMID=21437268
|Title=A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
|OA=1
}}

{{PMID Auto
|PMID=21455501
|Title=Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature.
|OA=1
}}

{{PMID Auto
|PMID=21576033
|Title=ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population.
}}

{{PMID Auto
|PMID=21900886
|Title=Pharmacogenetics of naltrexone in asian americans: a randomized placebo-controlled laboratory study.
|OA=1
}}

{{PMID Auto
|PMID=21917409
|Title=Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers.
}}

{{PMID Auto
|PMID=21946912
|Title=Folate, alcohol, and aldehyde dehydrogenase 2 polymorphism and the risk of oral and pharyngeal cancer in Japanese.
}}

{{PMID Auto
|PMID=22004425
|Title=Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study.
}}

{{PMID Auto
|PMID=23060937
|Title=A variant allele of ADH1B and ALDH2, is associated with the risk of esophageal cancer
|OA=1
}}

{{GET Evidence
|gene=ALDH2
|aa_change=Glu504Lys
|aa_change_short=E504K
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs671
|overall_frequency_n=1
|overall_frequency_d=96
|overall_frequency=0.0104167
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|in_gwas=Y
|pph2_score=0.999
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

[[Alcohol Consumption, Smoking and Risk of Esophageal Cancer]]

{{PMID Auto GWAS
  |PMID=22797727
  |Trait=Renal function-related traits (sCR)
  |Title=Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
  |RiskAllele=A
  |Pval=3E-10
  |OR=.00
  |ORtxt=[0.0031-0.0059] mg/dl increase
  }}

{{PMID Auto
|PMID=23685282
|Title=Association of genetic polymorphisms in ADH and ALDH2 with risk of coronary artery disease and myocardial infarction: A meta-analysis
}}

{{PMID Auto
|PMID=23697560
|Title=ALDH2 rs671 Polymorphism and Coronary Heart Disease Risk Among Asian Populations: A Meta-Analysis and Meta-Regression
}}

{{PMID Auto
|PMID=23430454
|Title=Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population
}}

{{PMID Auto
|PMID=24277619
|Title=Associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample
}}

{{PMID Auto
|PMID=22560290
|Title=A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
}}

{{PMID Auto
|PMID=22930414
|Title=Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.
}}

{{PMID Auto
|PMID=23088731
|Title=Tag single nucleotide polymorphisms of alcohol-metabolizing enzymes modify the risk of upper aerodigestive tract cancers: HapMap database analysis.
}}

{{PMID Auto
|PMID=23243119
|Title=Is aldehyde dehydrogenase 2 a credible genetic instrument for alcohol use in Mendelian randomization analysis in Southern Chinese men?
}}

{{PMID Auto
|PMID=23364009
|Title=Common variants at 12q24 are associated with drinking behavior in Han Chinese.
}}

{{PMID Auto
|PMID=23455379
|Title=The aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism interacts with alcohol drinking in the risk of stomach cancer.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}