2017
Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B
Justice AC, McGinnis KA, Tate JP, Xu K, Becker WC, Zhao H, Gelernter J, Kranzler HR. Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B. Alcohol Clinical And Experimental Research 2017, 41: 998-1003. PMID: 28295416, PMCID: PMC5501250, DOI: 10.1111/acer.13373.Peer-Reviewed Original ResearchConceptsHarmful alcohol useAlcohol exposureAlcohol useElectronic health record dataEHR dataAUDIT-C scoresHealth record dataLongitudinal electronic health record dataLongitudinal trajectoriesChi-square testEHR-derived phenotypesStudy cohortBlood drawCommon missense polymorphismGenetic risk variantsBlood samplingMissense polymorphismAlcohol riskQuantitative biomarkersRecord dataMedianRisk variantsOverall sampleAfrican AmericansADH1B geneADH1B: From alcoholism, natural selection, and cancer to the human phenome
Polimanti R, Gelernter J. ADH1B: From alcoholism, natural selection, and cancer to the human phenome. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2017, 177: 113-125. PMID: 28349588, PMCID: PMC5617762, DOI: 10.1002/ajmg.b.32523.Peer-Reviewed Original ResearchConceptsHuman phenomeMultiple human tissuesPhenome-wide association studyMolecular functionsGene regulationPhenotypic traitsBioinformatics analysisEvolutionary dataFunctional allelesAssociation studiesMetabolic traitsAlcohol metabolismMolecular pathwaysMultiple molecular pathwaysHuman evolutionPhenomeGenesADH1B geneTraitsComplex mechanismsHuman tissuesMetabolismAllelesADH1BADH1B locus
2011
Strong Association of the Alcohol Dehydrogenase 1B Gene (ADH1B) with Alcohol Dependence and Alcohol-Induced Medical Diseases
Li D, Zhao H, Gelernter J. Strong Association of the Alcohol Dehydrogenase 1B Gene (ADH1B) with Alcohol Dependence and Alcohol-Induced Medical Diseases. Biological Psychiatry 2011, 70: 504-512. PMID: 21497796, PMCID: PMC3142297, DOI: 10.1016/j.biopsych.2011.02.024.Peer-Reviewed Original ResearchConceptsAlcohol dependenceAlcohol dehydrogenase 1B (ADH1B) geneMedical diseasesAlcohol-induced liver diseaseStrong associationCertain Asian populationsRandom-effects modelADH1B geneLarger ORsLiver diseaseSubgroup analysisLarger sample sizeDrug dependenceSignificant associationSubstance dependenceMultiple ethnic populationsRecessive modelAsian populationsDisease