2022
Genome-Wide Investigation of Maximum Habitual Alcohol Intake in US Veterans in Relation to Alcohol Consumption Traits and Alcohol Use Disorder
Deak JD, Levey DF, Wendt FR, Zhou H, Galimberti M, Kranzler HR, Gaziano JM, Stein MB, Polimanti R, Gelernter J, Muralidhar S, Moser J, Deen J, Gaziano J, Beckham J, Chang K, Tsao P, Luoh S, Casas J, Churby L, Whitbourne S, Brewer J, Brophy M, Selva L, Shayan S, Cho K, Pyarajan S, DuVall S, Connor T, Argyres D, Aslan M, Stephens B, Concato J, Gelernter J, Gleason T, Huang G, Koenen K, Marx C, Radhakrishnan K, Schork N, Stein M, Zhao H, Kaufman J, Nunez Y, Pietrzak R, Beck D, Cissell S, Crutchfield P, Lance W, Cheung K, Li Y, Sun N, Chen Q, Rajeevan N, Sayward F, Gagnon D, Harrington K, Quaden R, O'Leary T, Ramoni R. Genome-Wide Investigation of Maximum Habitual Alcohol Intake in US Veterans in Relation to Alcohol Consumption Traits and Alcohol Use Disorder. JAMA Network Open 2022, 5: e2238880. PMID: 36301540, PMCID: PMC9614582, DOI: 10.1001/jamanetworkopen.2022.38880.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenome-wide significant lociGenomic structural equation modelingSignificant lociAlcohol traitsAssociation studiesAfrican ancestry participantsGenome-wide investigationAncestry-specific genome-wide association studiesGenetic correlationsPsychiatric traitsLinkage disequilibrium score regressionGenetic associationStrong genetic correlationSingle nucleotide variantsGenetic architectureGenetic association studiesGenetic lociTop associationsNegative rgEuropean ancestry participantsNucleotide variantsFunctional variantsScore regressionTraits
2018
Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population
Gelernter J, Zhou H, Nuñez YZ, Mutirangura A, Malison RT, Kalayasiri R. Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population. Alcohol Clinical And Experimental Research 2018, 42: 861-868. PMID: 29460428, PMCID: PMC5916336, DOI: 10.1111/acer.13614.Peer-Reviewed Original ResearchConceptsGenomewide association studiesAssociation studiesRisk genesAldehyde dehydrogenase 2Prior biological informationAfrican ancestry populationsRelated traitsSame geneBiological informationAlcohol dehydrogenasesSignificant pleiotropyDehydrogenase BGenesFunctional variantsPsychiatric traitsGenomewide significant associationPleiotropy analysisTraitsAncestry populationsFirst genomewide association studyPleiotropyDehydrogenase 2Null variants
2014
The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders
Jensen KP, Kranzler HR, Stein MB, Gelernter J. The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2014, 165: 175-183. PMID: 24436253, PMCID: PMC4174417, DOI: 10.1002/ajmg.b.32219.Peer-Reviewed Original ResearchConceptsGene-trait relationshipsGWAS-identified variantsRegulation of mRNAGWAS signalsComplex traitsTrait associationsTarget genesStudy signalsSNP associationsRisk genesFunctional variantsSNPsGenesAnxiety-related traitsGene SNPsTraitsMRNAMAP2K5MicroRNAsMajor psychiatric disordersVariantsSite informationMitogenRegulationPathway
2011
Association between polymorphisms in catechol‐O‐methyltransferase (COMT) and cocaine‐induced paranoia in European‐American and African‐American populations
Ittiwut R, Listman JB, Ittiwut C, Cubells JF, Weiss RD, Brady K, Oslin D, Farrer LA, Kranzler HR, Gelernter J. Association between polymorphisms in catechol‐O‐methyltransferase (COMT) and cocaine‐induced paranoia in European‐American and African‐American populations. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2011, 156: 651-660. PMID: 21656904, PMCID: PMC3864552, DOI: 10.1002/ajmg.b.31205.Peer-Reviewed Original Research
2009
A sequencing‐based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls
Amin Z, Kanarek K, Krupitsky E, Walderhaug E, Ilomäki R, Blumberg H, Price LH, Bhagwagar Z, Carpenter LL, Tyrka AR, Magnusson A, Landrø NI, Zvartau E, Gelernter J, Epperson CN, Räsänen P, Siironen J, Lappalainen J. A sequencing‐based survey of functional APAF1 alleles in a large sample of individuals with affective illness and population controls. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2009, 153B: 332-335. PMID: 19455599, PMCID: PMC3580167, DOI: 10.1002/ajmg.b.30984.Peer-Reviewed Original Research
2007
Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4
Ittiwut C, Listman J, Mutirangura A, Malison R, Covault J, Kranzler HR, Sughondhabirom A, Thavichachart N, Gelernter J. Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4. Genomics 2007, 91: 61-69. PMID: 17976953, PMCID: PMC2709929, DOI: 10.1016/j.ygeno.2007.08.007.Peer-Reviewed Original ResearchConceptsLinkage disequilibrium patternsDisequilibrium patternsHuman chromosome 4Intergenic distancesIntergenic regionHaplotype block structureChromosome 4Haplotype structureLD blocksFunctional variantsGamma 1 subunitChromosome 4pHigh LDGABRA2 locusGenetic associationGenesLociDifferent populationsAlpha 2GABRA2KbSubunitsPopulationReported associationsGABRG1
2006
Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence
Luo X, Kranzler HR, Zuo L, Wang S, Schork NJ, Gelernter J. Diplotype Trend Regression Analysis of the ADH Gene Cluster and the ALDH2 Gene: Multiple Significant Associations with Alcohol Dependence. American Journal Of Human Genetics 2006, 78: 973-987. PMID: 16685648, PMCID: PMC1474098, DOI: 10.1086/504113.Peer-Reviewed Original ResearchConceptsADH gene clusterGene clusterAldehyde dehydrogenase geneStructured association analysisConventional association methodsALDH2 geneAlcohol dehydrogenaseAdh geneDehydrogenase geneAssociation analysisSusceptibility lociGenesRisk genesFunctional variantsDisease allelesFunctional complexityCase-control sampleAncestry informative markersHardy-Weinberg equilibrium testDisequilibrium measuresMultiple significant associationsAllelesAlcohol-metabolizing enzymesConventional case-control comparisonsUnlinked ancestry-informative markers
2001
Polymorphism of the 5-HT1B Receptor Gene (HTR1B): Strong Within-Locus Linkage Disequilibrium without Association to Antisocial Substance Dependence
Kranzler HR, Hernandez-Avila CA, Gelernter J. Polymorphism of the 5-HT1B Receptor Gene (HTR1B): Strong Within-Locus Linkage Disequilibrium without Association to Antisocial Substance Dependence. Neuropsychopharmacology 2001, 26: 115-122. PMID: 11751038, DOI: 10.1016/s0893-133x(01)00283-4.Peer-Reviewed Original ResearchConceptsSubstance dependenceAlcohol dependenceAntisocial personality disorderAntisocial alcoholismG861C polymorphismAntisocial diagnosisSouthwestern American IndiansAfrican AmericansAllelic associationSerotonergic abnormalitiesSerotonin receptorsFurther evaluationPersonality disorderLinkage disequilibriumReceptor geneDisordersPopulation groupsEuropean AmericansAssociationHTR1BDiagnosisAlcoholismPresent studyAmerican IndiansFunctional variants
2000
Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence
Zabetian C, Gelernter J, Cubells J. Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence. American Journal Of Medical Genetics 2000, 96: 638-645. PMID: 11054771, DOI: 10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAryl Hydrocarbon HydroxylasesBase SequenceCytochrome P-450 CYP2A6Cytochrome P-450 Enzyme SystemDNAGene FrequencyGenetic VariationGenetics, PopulationGenotypeHumansMixed Function OxygenasesPolymorphism, GeneticSequence Analysis, DNASequence Homology, Nucleic AcidTobacco Use DisorderConceptsTobacco dependenceMetabolism of nicotineCYP2A6CYP2A6 allelesGenotype resultsNull variantsPopulation studiesLow allele frequenciesRestriction enzyme digestionGenetic association studiesPredominant enzymeFunctional variantsExon 4Future genetic association studiesNew genotyping methodAllele frequenciesEuropean populationsExon 3Population
1998
DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects
Gelernter J, Kranzler H, Cubells JF, Ichinose H, Nagatsu T. DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects. Genomics 1998, 51: 21-26. PMID: 9693029, DOI: 10.1006/geno.1998.5264.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumFunctional variantsSignificant linkage disequilibriumMutational analysis studiesFirst intronKb 5Linkage disequilibriaFrequencies of haplotypesPopulation stratificationGenetic associationDrd2 promoterPhysiological basisAllele frequenciesPhysiological relationshipGenesReceptor allelesEuropean-American subjectsD2 dopamine receptor (DRD2) allelesDisequilibriumBehavioral phenotypesPhenotypeFunctional meaningEuropean originVariantsAmerican population