ADH1B: From alcoholism, natural selection, and cancer to the human phenome.
paper
Cited
Public
- Authors
- Polimanti, Renato; Gelernter, Joel
- Year
- 2018
- Journal
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- PMID
- 28349588
- DOI
- 10.1002/ajmg.b.32523
- PMCID
- PMC5617762
The ADH1B (Alcohol Dehydrogenase 1B (class I), Beta Polypeptide) gene and its best-known functional alleles, Arg48His (rs1229984, ADH1B*2) and Arg370Cys (rs2066702, ADH1B*3), have been investigated in relation to many phenotypic traits; most frequently including alcohol metabolism and alcohol drinking behaviors, but also human evolution, liver function, cancer, and, recently, the comprehensive human phenome. To understand ADH1B functions and consequences, we provide here a bioinformatic analysis of its gene regulation and molecular functions, literature review of studies focused on this gene, and a discussion regarding future research perspectives. Certain ADH1B alleles have large effects on alcohol metabolism, and this relationship particularly encourages further investigations in relation to alcoholism and alcohol-associated cancer to understand better the mechanisms by which alcohol metabolism contributes to alcohol abuse and carcinogenesis. We also observed that ADH1B has complex mechanisms that regulate its expression across multiple human tissues, and these may be involved in cardiac and metabolic traits. Evolutionary data strongly suggest that the selection signatures at the ADH1B locus are primarily related to effects other than those on alcohol metabolism. This is also supported by the involvement of ADH1B in multiple molecular pathways and by the findings of our recent phenome-wide association study. Accordingly, future studies should also investigate other functions of ADH1B potentially relevant for the human phenome. © 2017 Wiley Periodicals, Inc.
ADH1B expression across human tissues (data available at http://www.gtexportal.org/home/).
ADH1B isoform expressions (ENST00000506651, ENST00000394887, ENST00000515694, ENST00000504498, and ENST00000305046) across human tissues (data available at http://www.gtexportal.org/home/).
Effects of rs10516440 on ADH1B expression across human tissues (data available at http://www.gtexportal.org/home/).
ADH1B protein interactive network (data available at http://string-db.org/).
ADH1B rs1229984 variation across human populations (data available at http://hgdp.uchicago.edu/).
1–20 of 36
Next →
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
In this knowledge base
| Title | Year | PMID |
|---|---|---|
| Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. | 2019 | 30940813 |
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Ancestral diversity in complex disease genetics: from discovery to translation. | Kuchenbaecker K et al. | — | 2026 | → |
| Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice. | Raghavan RP et al. | — | 2026 | → |
| Alcohol-Metabolizing Enzymes, Liver Diseases and Cancer. | Liu T et al. | — | 2025 | → |
| Development of a prognostic risk model for colorectal cancer based on microsatellite stability-associated genes. | Zheng X et al. | — | 2025 | → |
| Genetic and epigenetic determinants of fetal alcohol spectrum disorders: Toward a precision medicine approach. | Sessa F et al. | — | 2025 | → |
| Genetic Polymorphisms of <i>ALDH2</i> and <i>ADH1B</i> in Alcohol-Induced Liver Injury: Molecular Mechanisms of Inflammation and Disease Progression in East Asian Populations. | Tadokoro T et al. | — | 2025 | → |
| Human genetics of metabolic dysfunction-associated steatotic liver disease: from variants to cause to precision treatment. | Chen VL et al. | — | 2025 | → |
| Maternal alcohol consumption during pregnancy and child development: Role of ADH1B and ALDH2 gene polymorphisms-The Yamanashi Adjunct Study of the Japan Environment and Children's Study. | Miyake K et al. | — | 2025 | → |
| Nanoparticle-Mediated Gene Therapy in Women's Health: Progress, Delivery Challenges, and the Need for Sex, Age, and Ancestry Informed Design. | Maestas-Olguin A et al. | — | 2025 | → |
| Network Mendelian randomisation analysis deciphers protein pathways linking type 2 diabetes and gastrointestinal disease. | Geng J et al. | — | 2025 | → |
| The Associations of Tobacco, Alcohol, and Coffee Consumption with Upper and Lower Gastrointestinal Disease Risk: A Mendelian Randomization Study. | Xue F et al. | — | 2025 | → |
| Alcohol-associated liver disease. | Mackowiak B et al. | — | 2024 | → |
| Alcohol consumption and risk of psoriasis: Results from observational and genetic analyses in more than 100,000 individuals from the Danish general population. | Jordan A et al. | — | 2024 | → |
| An idea to explore: Determination of single nucleotide polymorphisms in alcohol metabolism-related genes using PCR-based assays to understand the link between an individual's genotype and phenotype. | Shirasu N et al. | — | 2024 | → |
| A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals. | Jennings MV et al. | — | 2024 | → |
| Bitter taste function-related genes are implicated in the behavioral association between taste preference and ethanol preference in male mice. | Koh AP et al. | — | 2024 | → |
| Contribution of infectious diseases to the selection of ADH1B and ALDH2 gene variants in Asian populations. | Deiana G et al. | — | 2024 | → |
| Exploring patterns of alcohol use and alcohol use disorder among Asian Americans with a finer lens. | Zhang H et al. | — | 2024 | → |
| Integrating network pharmacology and computational biology to propose Yiqi Sanjie formula's mechanisms in treating NSCLC: molecular docking, ADMET, and molecular dynamics simulation. | Wang Y et al. | — | 2024 | → |
| Interaction of genetic variation at ADH1B and MLXIPL with alcohol consumption for elevated serum urate level and gout among people of European ethnicity. | Chuah MH et al. | — | 2024 | → |
| Modifiable lifestyle factors influencing psychiatric disorders mediated by plasma proteins: A systemic Mendelian randomization study. | Chen Z et al. | — | 2024 | → |
| MR Corge: sensitivity analysis of Mendelian randomization based on the core gene hypothesis for polygenic exposures. | Zhang W et al. | — | 2024 | → |
| Multi-omics analysis of renal vein serum with Ischemia-Reperfusion injury. | Wang X et al. | — | 2024 | → |
| Prediction of esophageal cancer risk based on genetic variants and environmental risk factors in Chinese population. | Liu H et al. | — | 2024 | → |
| A deep catalog of protein-coding variation in 985,830 individuals | Sun KY et al. | — | 2023 | — |
| A Lifestyle Risk Reduction Model for Preventing High-Risk Substance Use Across the Lifespan. | Dykstra RE et al. | — | 2023 | → |
| Development of tryptophan metabolism patterns to predict prognosis and immunotherapeutic responses in hepatocellular carcinoma. | Long G et al. | — | 2023 | → |
| Genetic Influences on Fetal Alcohol Spectrum Disorder. | Sambo D et al. | — | 2023 | → |
| Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease. | Chen Y et al. | — | 2023 | → |
| Identifying and analyzing the key genes shared by papillary thyroid carcinoma and Hashimoto's thyroiditis using bioinformatics methods. | Liu TT et al. | — | 2023 | → |
| Implementing Core Genes and an Omnigenic Model for Behaviour Traits Prediction in Genomics. | Rancelis T et al. | — | 2023 | → |
| Mendelian randomization for cardiovascular diseases: principles and applications. | Larsson SC et al. | — | 2023 | → |
| The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank. | Stuart KV et al. | — | 2023 | → |
| Alcohol metabolism genes and risks of site-specific cancers in Chinese adults: An 11-year prospective study. | Im PK et al. | — | 2022 | → |
| Association of Alcohol Use Disorder Risk With <i>ADH1B, DRD2, FAAH, SLC39A8, GCKR</i>, and <i>PDYN</i> Genetic Polymorphisms. | Legaki E et al. | — | 2022 | → |
| Signatures of Convergent Evolution and Natural Selection at the Alcohol Dehydrogenase Gene Region are Correlated with Agriculture in Ethnically Diverse Africans. | McQuillan MA et al. | — | 2022 | → |
| Spatial maps of hepatocellular carcinoma transcriptomes highlight an unexplored landscape of heterogeneity and a novel gene signature for survival. | Zhao N et al. | — | 2022 | → |
| The prognostic role of fatty acid metabolism-related genes in patients with gastric cancer. | Xu W et al. | — | 2022 | → |
| Alcohol in Psoriasis-From Bench to Bedside. | Szentkereszty-Kovács Z et al. | — | 2021 | → |
| An investigation to identify tumor microenvironment-related genes of prognostic value in lung squamous cell carcinoma based on The Cancer Genome Atlas. | Liu H et al. | — | 2021 | → |
| Biochemical Mechanisms Associating Alcohol Use Disorders with Cancers. | Rodriguez FD et al. | — | 2021 | → |
| Chronic Alcohol Use Induces Molecular Genetic Changes in the Dorsomedial Thalamus of People with Alcohol-Related Disorders. | Hade AC et al. | — | 2021 | → |
| Functional and clinical implications of genetic structure in 1686 Italian exomes. | Birolo G et al. | — | 2021 | → |
| Further evidence supporting a potential role for ADH1B in obesity. | Morales LD et al. | — | 2021 | → |
| Genetics of substance use disorders in the era of big data. | Gelernter J et al. | — | 2021 | → |
| Protein profiling reveals potential isomiR-associated cross-talks among RNAs in cholangiocarcinoma. | Guo L et al. | — | 2021 | → |
| Quantitative acetylome analysis reveals histone modifications that may predict prognosis in hepatitis B-related hepatocellular carcinoma. | Chai X et al. | — | 2021 | → |
| Symbiosis and the Anthropocene. | Hom EFY et al. | — | 2021 | → |
| Variants in urate transporters, ADH1B, GCKR and MEPE genes associate with transition from asymptomatic hyperuricaemia to gout: results of the first gout versus asymptomatic hyperuricaemia GWAS in Caucasians using data from the UK Biobank. | Sandoval-Plata G et al. | — | 2021 | → |
| Whole Genome Interpretation for a Family of Five. | Corpas M et al. | — | 2021 | → |
| Association between rs1229984 in ADH1B and cancer prevalence in a Japanese population. | Govind P et al. | — | 2020 | → |
| Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population. | Huang YH et al. | — | 2020 | → |
| Genes and Eating Preferences, Their Roles in Personalized Nutrition. | Vesnina A et al. | — | 2020 | → |
| Recent advances in genetic studies of alcohol use disorders. | Gupta I et al. | — | 2020 | → |
| Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women. | García-Martín E et al. | — | 2019 | → |
| Conventional and genetic evidence on alcohol and vascular disease aetiology: a prospective study of 500 000 men and women in China. | Millwood IY et al. | — | 2019 | → |
| Endoscopic screening using esophageal iodine staining and genotypes of ADH1B and ALDH2 in Japanese alcohol-dependent women. | Yokoyama A et al. | — | 2019 | → |
| Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. | Kranzler HR et al. | — | 2019 | → |
| Genome-wide Association Study of Maximum Habitual Alcohol Intake in >140,000 U.S. European and African American Veterans Yields Novel Risk Loci. | Gelernter J et al. | — | 2019 | → |
| Unexpected roles for ADH1 and SORD in catalyzing the final step of erythritol biosynthesis. | Schlicker L et al. | — | 2019 | → |
| Alcohol Dehydrogenases, Aldehyde Dehydrogenases, and Alcohol Use Disorders: A Critical Review. | Edenberg HJ et al. | — | 2018 | → |
| Genetic variant repressing ADH1A expression confers susceptibility to esophageal squamous-cell carcinoma. | Cui Q et al. | — | 2018 | → |
| Recent Selection on a Class I ADH Locus Distinguishes Southwest Asian Populations Including Ashkenazi Jews. | Gu S et al. | — | 2018 | → |
| Replication of the Interaction of PRKG1 and Trauma Exposure on Alcohol Misuse in an Independent African American Sample. | Hawn SE et al. | — | 2018 | → |
| Analysis of the Association of Nonsynonymous Polymorphisms in ADH Genes with Hazardous Drinking in HIV-1-Positive Individuals. | Wolf JM et al. | — | 2017 | → |
| Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors. | Polimanti R et al. | — | 2017 | → |
| Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis. | Treutlein J et al. | — | 2017 | → |
| "Gestaltomics": Systems Biology Schemes for the Study of Neuropsychiatric Diseases. | Gutierrez Najera NA et al. | — | 2017 | → |
| The roles of alcohol dehydrogenase in patients with atrial fibrillation. | Hu YF et al. | — | 2017 | → |