Varaico: Literature-Extracted Genetic Variants

Gene:ADH1B
Variant:p.H48R
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ADH1B

NM_000668.6:p.H48R

Associated Papers

Germline mutations and somatic mosaicism in steatotic liver diseases and related liver carcinogenesis.

Trépo E et al.

Nature Reviews. Gastroenterology & Hepatology, 2026

Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice.

Raghavan RP et al.

Journal of Personalized Medicine, 2026

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

Vujkovic M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Role of genetic variants and DNA methylation of lipid metabolism-related genes in metabolic dysfunction-associated steatotic liver disease.

Wang JJ et al.

Frontiers in Physiology, 2025

40166716 (PubMed )
Supplement: Table1.xlsx › Table_S1__

Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.

Sookoian S et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024

A genome-wide association analysis reveals new pathogenic pathways in gout.

Major TJ et al.

Nature Genetics, 2024

The contribution of genetics and epigenetics to MAFLD susceptibility.

Moretti V et al.

Hepatology International, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

Human genetics and epigenetics of alcohol use disorder.

Zhou H et al.

The Journal of Clinical Investigation, 2024

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.

Ghouse J et al.

Nature Genetics, 2024

Genetic architecture of alcohol consumption identified by a genotype-stratified GWAS and impact on esophageal cancer risk in Japanese people.

Koyanagi YN et al.

Science Advances, 2024

Complex effects of sequence variants on lipid levels and coronary artery disease.

Snaebjarnarson AS et al.

Cell, 2023

Mediation analysis unveils a carcinogenic effect of ADH1B rs1229984 through mechanisms other than change in drinking intensity: oesophageal cancer case-control study.

Sugimoto Y et al.

Japanese Journal of Clinical Oncology, 2023

Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.

Zheng W et al.

Genome Biology, 2023

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.

Kanoni S et al.

Genome Biology, 2022

Gene polymorphisms of cyclin-dependent kinase inhibitor and matrix metalloproteinase-9 in Sudanese patients with esophageal squamous cell carcinoma.

Eltayeb MM et al.

Molecular Genetics & Genomic Medicine, 2022

Multiomics study of nonalcoholic fatty liver disease.

Sveinbjornsson G et al.

Nature Genetics, 2022

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

SLC19A1 Genetic Variation Leads to Altered Thiamine Diphosphate Transport: Implications for the Risk of Developing Wernicke-Korsakoff's Syndrome.

O'Brien NL et al.

Alcohol and Alcoholism (oxford, Oxfordshire), 2022

Genetic Variations of ALDH (rs671) Are Associated With the Persistence of HBV Infection Among the Chinese Han Population.

Shang D et al.

Frontiers in Medicine, 2022

Machine learning enables new insights into genetic contributions to liver fat accumulation.

Haas ME et al.

Cell Genomics, 2021

Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Khoruddin NA et al.

Scientific Reports, 2021

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity.

Akbari P et al.

Science (new York, N.y.), 2021

Genetic Variants of Alcohol Metabolizing Enzymes and Alcohol-Related Liver Cirrhosis Risk.

Ayuso P et al.

Journal of Personalized Medicine, 2021

Functional and clinical implications of genetic structure in 1686 Italian exomes.

Birolo G et al.

Human Mutation, 2021

Association Study of Alcohol Dehydrogenase and Aldehyde Dehydrogenase Polymorphism With Alzheimer Disease in the Taiwanese Population.

Wu YY et al.

Frontiers in Neuroscience, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

Surendran P et al.

Nature Genetics, 2020

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM20_ESM.xlsx › S13

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.

Li G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

31969372 (PubMed )
Supplement: 10559965epi191281-sup-230715_3_supp_6000458_q3kstt.docx

Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population.

Sakaue S et al.

European Journal of Human Genetics : Ejhg, 2020

No genetic evidence for involvement of alcohol dehydrogenase genes in risk for Parkinson's disease.

Kim JJ et al.

Neurobiology of Aging, 2020

Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Chen Z et al.

Molecular Genetics & Genomic Medicine, 2020

31867841 (PubMed )
Supplement: MGG3-8-e1079-s004.xlsx › Sheet1

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

Sun Y et al.

Translational Psychiatry, 2019

Genetic variants of alcohol-metabolizing enzymes in Brugada syndrome: Insights into syncope after drinking alcohol.

Wu Q et al.

Journal of Arrhythmia, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."