Varaico: Literature-Extracted Genetic Variants

Gene:ADH1C
Variant:p.R48H
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ADH1C

NM_000669.5:p.R48H

Associated Papers

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.

Ebiomedicine, 2024

38580523 (PubMed )
Supplement: mmc1.docx

Improving the discovery of rare variants associated with alcohol problems by leveraging machine learning phenotype prediction and functional information.

Ahangari M et al.

Biorxiv : the Preprint Server for Biology, 2023

ADH1B, ADH1B/C and CYP2E1 Gene Polymorphism and the Risk of Fetal Alcohol Spectrum Disorder.

Kukowka A et al.

Genes, 2023

Whole Exome Sequencing Study in Isolated South-Eastern Moravia (Czechia) Population Indicates Heterogenous Genetic Background for Parkinsonism Development.

Kolarikova K et al.

Frontiers in Neuroscience, 2022

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

Ayuso P et al.

Journal of Personalized Medicine, 2021

Association between rs1229984 in ADH1B and cancer prevalence in a Japanese population.

Govind P et al.

Molecular and Clinical Oncology, 2020

Association of alcohol dehydrogenase and aldehyde dehydrogenase Polymorphism with Spontaneous Deep Intracerebral Haemorrhage in the Taiwan population.

Huang YH et al.

Scientific Reports, 2020

New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Bartoníková T et al.

Medicine, 2018

Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B.

Justice AC et al.

Alcoholism, Clinical and Experimental Research, 2017

Genetic influences on response to alcohol and response to pharmacotherapies for alcoholism.

Enoch MA

Pharmacology, Biochemistry, and Behavior, 2014

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

Gelernter J et al.

Molecular Psychiatry, 2014

Alcohol-dehydrogenase (ADH1B) Arg48His polymorphism in Basque Country patients with oral and laryngeal cancer: preliminary study.

Marichalar-Mendia X et al.

Anticancer Research, 2011

Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.

Wang LL et al.

Alcohol (fayetteville, N.y.), 2010

Alcohol dehydrogenase 2 genotype and risk for migraine.

García-Martín E et al.

Headache, 2010

Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.

Macgregor S et al.

Human Molecular Genetics, 2009

Coding and non-coding polymorphisms in alcohol dehydrogenase alters protein expression and alcohol-associated erythema.

Pershing LK et al.

The Journal of Investigative Dermatology, 2008

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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."