Gene: ADH1B

Alternate names for this Gene: ADH2|HEL-S-117

Gene Summary: The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4q23

Description of this Gene: alcohol dehydrogenase 1B (class I), beta polypeptide

Type of Gene: protein-coding

rs1229984 in ADH1B gene and Alcohol consumption PMID 23743675 2013 A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.

PMID 28485404 2017 We also observed a genome-wide significant association in non-Hispanic whites between the previously reported SNP rs1229984 in ADH1B and both alcohol consumption phenotypes (OR=0.79, P=2.47 × 10<sup>-20</sup> for drinker status and beta=-0.19, P=1.91 × 10<sup>-35</sup> for drinks/week), which replicated in Hispanic/Latinos (OR=0.72, P=4.35 × 10<sup>-7</sup> and beta=-0.21, P=2.58 × 10<sup>-6</sup>, respectively).

rs1154433 in ADH1B gene and Alcohol-Induced Disorders PMID 30940813 2019 Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.

PMID 23456092 2013 Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.

PMID 24166409 2014 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.

PMID 31090166 2019 Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria.

PMID 22004471 2012 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.

PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.

PMID 31591379 2019 Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

rs1154433 in ADH1B gene and Alcohol-Related Disorders PMID 30940813 2019 Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.

PMID 23456092 2013 Extended genetic effects of ADH cluster genes on the risk of alcohol dependence: from GWAS to replication.

PMID 24166409 2014 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.

PMID 31090166 2019 Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria.

PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.

PMID 22004471 2012 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.

PMID 31591379 2019 Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

rs1154433 in ADH1B gene and Alcoholic Intoxication, Chronic PMID 30940813 2019 Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.

PMID 23456092 2013 In case-control analysis, ADH1B rs1229984 (H47R) showed the most significant association with the risk of AD (p = 2.63 × 10(-21), OR = 2.35).

PMID 24166409 2014 Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci.

PMID 31090166 2019 In the trans-ancestral meta-analysis, rs1229984 was associated with multiple phenotypes and two additional loci were genome-wide significant: rs61826952 (chromosome 1, DSM-IV AD, P = 8.42E-11); rs7597960 (chromosome 2, Time spent drinking, P = 1.22E-08).

PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.

PMID 22004471 2012 Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.

PMID 31591379 2019 Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison.

rs1229984 in ADH1B gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs1229984 in ADH1B gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs1229984 in ADH1B gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1042026 in ADH1B gene and Esophageal Neoplasms PMID 20833657 2010 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 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

PMID 19698717 2009 Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.

rs1229984 in ADH1B gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1229984 in ADH1B gene and Head and Neck Neoplasms PMID 21437268 2011 A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.

rs1229984 in ADH1B gene and Malignant neoplasm of anterior portion of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of esophagus PMID 19698717 2009 Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.

rs1229984 in ADH1B gene and Malignant neoplasm of floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of lateral floor of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of other sites within the lip and oral cavity PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of other specified parts of mouth PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Malignant neoplasm of posterior wall of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs1229984 in ADH1B gene and Oropharyngeal Carcinoma PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Pharyngeal Neoplasms PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Primary malignant neoplasm of lateral wall of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.

rs1229984 in ADH1B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1229984 in ADH1B gene and Sodium measurement PMID 31409800 2019 GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.

rs1229984 in ADH1B gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1789882 in ADH1B gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs1229984 in ADH1B gene and malignant neoplasm of lateral wall of oropharynx PMID 27749845 2016 Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer.