|(A;A)||2||0.56x decreased risk of oral/throat cancers|
|(A;G)||2||0.56x decreased risk of oral/throat cancers|
|(G;G)||1.1||normal oral/throat cancer risk; more frequent alcohol consumption|
Known in the literature as ADH2*2 or sometimes ADH1B*2, the allele with increased activity (meaning more rapid oxidation of ethanol to acetaldehyde) is His48, encoded by rs1229984(A). Individuals with one or especially two ADH2*2 alleles, ie genotypes rs1229984(A;G) or rs1229984(A;A) are more likely to find drinking unpleasant and have a somewhat reduced risk for alcoholism. [PMID 7635462] [PMID 21968928]
A study of over 3,800 cases of "upper aerodigestive" cancers (mouth/throat, voice box, and esophageal cancers) concluded that the rs1229984(A) allele (in dbSNP orientation) has a protective effect. Carriers of this allele had a 0.56x (decreased; p=10-10) risk of having one of these cancer types.[PMID 18500343]
A study of 4,500+ Australian twins concluded that rs1229984(G) carriers flush less after alcohol consumption, consumed alcohol on more occasions, had a higher maximum number of alcoholic drinks in a single day and had a higher overall alcohol consumption in the previous year than those with the less common (A) allele. [PMID 18996923]
The rs1229984(A;G) genotype might be associated with a decreased risk for migraine, and the rs1229984(A) allele may be related with the risk for triggering migraine attacks after alcohol consumption based on a study of 197 Spanish patients.[PMID 19486361]PMID 19298322] Associations and Interactions Between SNPs in the Alcohol Metabolizing Genes and Alcoholism Phenotypes in European Americans.
According to a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009. Customers with older data may wish to redownload. SNPs effected rs4420638, rs34276300, rs3091244, rs34601266, rs2033003, rs7900194, rs9332239, rs28371685, rs1229984, and rs28399504.
[PMID 19687126] A non-synonymous variant in ADH1B is strongly associated with prenatal alcohol use in a European sample of pregnant women
[PMID 19698717] Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk
[PMID 19861527] Impact of multiple alcohol dehydrogenase gene polymorphisms on risk of upper aerodigestive tract cancers in a Japanese population
[PMID 20205700] Genetic determinants of both ethanol and acetaldehyde metabolism influence alcohol hypersensitivity and drinking behaviour among Scandinavians
[PMID 20158305] Associations between ADH gene variants and alcohol phenotypes in Dutch adults
[PMID 20833657] 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 21372407] Confirmation of ALDH2 as a Major Locus of Drinking Behavior and of Its Variants Regulating Multiple Metabolic Phenotypes in a Japanese Population
[PMID 21437268] A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium
[PMID 22144473] Genetic variation in alcohol dehydrogenase (ADH1A, ADH1B, ADH1C, ADH7) and aldehyde dehydrogenase (ALDH2), alcohol consumption, and gastric cancer risk in the European Prospective Investigation into Cancer and Nutrition (EPIC) cohort
[PMID 21940907] Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer
[PMID 22690706] Association of alcohol dehydrogenase polymorphisms and lifestyle factors with excessive alcohol intake within the Spanish population (EPIC-Spain)
|Disease||Alcohol dependence Aerodigestive tract cancer|
|CLNDBN||Alcohol dependence Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|
|CLNSRC||OMIM Allelic Variant|
[PMID 12050823] A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity.
[PMID 16255080] A haplotype map of the human genome.
[PMID 16685648] Diplotype trend regression analysis of the ADH gene cluster and the ALDH2 gene: multiple significant associations with alcohol dependence.
[PMID 17185388] Multiple ADH genes modulate risk for drug dependence in both African- and European-Americans.
[PMID 17273965] Evidence of positive selection on a class I ADH locus.
[PMID 18331377] Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.
[PMID 18382665] Ethnic related selection for an ADH Class I variant within East Asia.
[PMID 18518925] Genetic susceptibility to heroin addiction: a candidate gene association study.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19193628] ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.
[PMID 19262484] Gene-environmental interaction regarding alcohol-metabolizing enzymes in the Japanese general population.
[PMID 19526455] ADH1A variation predisposes to personality traits and substance dependence.
[PMID 19737746] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
[PMID 20089146] The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.
[PMID 20219057] ADH1B*2 allele is protective against alcoholism but not chronic liver disease in the Hungarian population.
[PMID 20700531] The association of alcohol and alcohol metabolizing gene variants with diabetes and coronary heart disease risk factors in a white population.
[PMID 21303386] Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.
[PMID 21351086] Shortened telomeres in individuals with abuse in alcohol consumption.
[PMID 21378355] Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study.
[PMID 21497796] Strong association of the alcohol dehydrogenase 1B gene (ADH1B) with alcohol dependence and alcohol-induced medical diseases.
[PMID 21576033] ADH1B and ALDH2 polymorphisms and their associations with increased risk of squamous cell carcinoma of the head and neck in the Korean population.
[PMID 21895720] Alcohol dehydrogenase-1B Arg47His polymorphism and upper aerodigestive tract cancer risk: a meta-analysis including 24,252 subjects.
[PMID 21900886] Pharmacogenetics of naltrexone in asian americans: a randomized placebo-controlled laboratory study.
[PMID 21917409] Alcohol drinking, mean corpuscular volume of erythrocytes, and alcohol metabolic genotypes in drunk drivers.
[PMID 21926110] Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.
[PMID 21968928] ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry.
[PMID 22150722] ADH1B polymorphism, alcohol consumption, and binge drinking in Slavic Caucasians: results from the Czech HAPIEE study.
[PMID 22325912] Determination of the effects of alcohol dehydrogenase (ADH) 1B and ADH1C polymorphisms on alcohol dependence in Turkey.
[PMID 23060937] A variant allele of ADH1B and ALDH2, is associated with the risk of esophageal cancer
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23149980] 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
|Title||Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.|
|Odds Ratio||2.35 [1.95-2.84]|
[PMID 23430454] Genetic variants at 4q21, 4q23 and 12q24 are associated with esophageal squamous cell carcinoma risk in a Chinese population
[PMID 23895337] Alcohol-Metabolizing Genes and Alcohol Phenotypes in an Israeli Household Sample
[PMID 24164917] Childhood adversity moderates the effect of ADH1B on risk for alcohol-related phenotypes in Jewish Israeli drinkers
|Title||A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.|
|Odds Ratio||NR NR|
[PMID 24553426] Alcohol consumption and cognitive impairment in older men: A mendelian randomization study
[PMID 24552298] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis
[PMID 23806636] Prenatal alcohol exposure and childhood atopic disease: a Mendelian randomization approach
[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
[PMID 22930414] Single nucleotide polymorphisms of ADH1B, ADH1C and ALDH2 genes and esophageal cancer: a population-based case-control study in China.
[PMID 23088731] Tag single nucleotide polymorphisms of alcohol-metabolizing enzymes modify the risk of upper aerodigestive tract cancers: HapMap database analysis.
[PMID 23414439] Alcohol dehydrogenase-1B genotype (rs1229984) is a strong determinant of the relationship between body weight and alcohol intake in Japanese alcoholic men.
[PMID 25011450] Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data
[PMID 25192829] Testing for non-linear causal effects using a binary genotype in a Mendelian randomization study: application to alcohol and cardiovascular traits
[PMID 25323582] Alcohol dehydrogenase-1B Arg47His polymorphism is associated with head and neck cancer risk in Asian: a meta-analysis
[PMID 25524923] Genetic polymorphisms of ADH1B, ADH1C and ALDH2, alcohol consumption, and the risk of gastric cancer: the Japan Public Health Center-based prospective study
[PMID 26232779] Differential Effect of Initiating Moderate Red Wine Consumption on 24-h Blood Pressure by Alcohol Dehydrogenase Genotypes: Randomized Trial in Type 2 Diabetes
[PMID 26842247] Association Study of Gene Polymorphisms in GABA, Serotonin, Dopamine, and Alcohol Metabolism Pathways with Alcohol Dependence in Taiwanese Han Men.
[PMID 27902751] Exploration of a Polygenic Risk Score for Alcohol Consumption: A Longitudinal Analysis from the ALSPAC Cohort.
[PMID 28485404] Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.
[PMID 29045753] Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase B (ADH1B) Gene and Risk for Restless Legs Syndrome.