2018
Genome‐wide association meta‐analysis of age at first cannabis use
Minică CC, Verweij KJH, van der Most P, Mbarek H, Bernard M, van Eijk K, Lind PA, Liu MZ, Maciejewski DF, Palviainen T, Sánchez‐Mora C, Sherva R, Taylor M, Walters RK, Abdellaoui A, Bigdeli TB, Branje SJT, Brown SA, Casas M, Corley RP, Davey‐Smith G, Davies GE, Ehli EA, Farrer L, Fedko IO, Garcia‐Martínez I, Gordon SD, Hartman CA, Heath AC, Hickie IB, Hickman M, Hopfer CJ, Hottenga JJ, Kahn RS, Kaprio J, Korhonen T, Kranzler HR, Krauter K, van Lier P, Madden PAF, Medland SE, Neale MC, Meeus WHJ, Montgomery GW, Nolte IM, Oldehinkel AJ, Pausova Z, Ramos‐Quiroga J, Richarte V, Rose RJ, Shin J, Stallings MC, Wall TL, Ware JJ, Wright MJ, Zhao H, Koot HM, Paus T, Hewitt JK, Ribasés M, Loukola A, Boks MP, Snieder H, Munafò MR, Gelernter J, Boomsma DI, Martin NG, Gillespie NA, Vink JM, Derks EM. Genome‐wide association meta‐analysis of age at first cannabis use. Addiction 2018, 113: 2073-2086. PMID: 30003630, PMCID: PMC7087375, DOI: 10.1111/add.14368.Peer-Reviewed Original ResearchConceptsGenome-wide associationSingle nucleotide polymorphismsLinkage disequilibriumTwin-based heritabilityGene-based testsHigh linkage disequilibriumATPase geneWide associationATP2C2 geneChromosome 16Heritability analysisHeritability of ageGenetic variantsNucleotide polymorphismsDiscovery sampleHeritabilityGenesATP2C2Replication sampleEnvironmental factorsRole of calciumIdentified associationsFirst cannabis useFirst cannabisATP2B2
2013
ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample
Quillen EE, Chen X, Almasy L, Yang F, He H, Li X, Wang X, Liu T, Hao W, Deng H, Kranzler HR, Gelernter J. ALDH2 is associated to alcohol dependence and is the major genetic determinant of “daily maximum drinks” in a GWAS study of an isolated rural chinese sample. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2013, 165: 103-110. PMID: 24277619, PMCID: PMC4149216, DOI: 10.1002/ajmg.b.32213.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsCandidate single nucleotide polymorphismsGenome-wide association analysisCandidate gene studiesPhenotypic variationMajor genetic determinantGWAS studiesHeritable phenotypesAldehyde dehydrogenase deficiencyGene studiesAssociation analysisRisk genesLinkage disequilibriumGenetic determinantsExtended pedigreesNucleotide polymorphismsNorthern Hunan ProvinceAD-related phenotypesPhenotypeALDH2Consumption rateCCDC63
2011
GABRG1 and GABRA2 Variation Associated with Alcohol Dependence in African Americans
Ittiwut C, Yang B, Kranzler HR, Anton RF, Hirunsatit R, Weiss RD, Covault J, Farrer LA, Gelernter J. GABRG1 and GABRA2 Variation Associated with Alcohol Dependence in African Americans. Alcohol Clinical And Experimental Research 2011, 36: 588-593. PMID: 21919924, PMCID: PMC3250564, DOI: 10.1111/j.1530-0277.2011.01637.x.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsLinkage disequilibriumAssociation signalsLow linkage disequilibriumHigh genomic resolution
2007
Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research
Hirunsatit R, Ilomäki R, Malison R, Räsänen P, Ilomäki E, Kranzler HR, Kosten T, Sughondhabirom A, Thavichachart N, Tangwongchai S, Listman J, Mutirangura A, Gelernter J, Lappalainen J. Sequence variation and linkage disequilibrium in the GABA transporter-1 gene (SLC6A1) in five populations: implications for pharmacogenetic research. BMC Genomic Data 2007, 8: 71. PMID: 17941974, PMCID: PMC2175509, DOI: 10.1186/1471-2156-8-71.Peer-Reviewed Original ResearchMeSH KeywordsAnalysis of VarianceAsian PeopleBlack or African AmericanFinlandGABA Plasma Membrane Transport ProteinsGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansLinkage DisequilibriumPharmacogeneticsPolymorphism, Single NucleotidePromoter Regions, GeneticRecombination, GeneticSequence Analysis, DNAThailandWhite PeopleConceptsLinkage disequilibriumGenetic diversityVariable number tandem repeatHigh genetic diversityPopulation-specific variantsTransporter 1 geneProblematic genesRecombination hotspotsGenetic variationSequence variationContinental groupsIntronic regionsGenetic studiesLD blocksTandem repeatsNumber tandem repeatGAT-1 functionCandidate allelesLD patternsPopulation differencesNovel targetTag SNPsSuch variantsGenesTransporter 1
2004
Confirmation and fine mapping of the chromosome 1 alcohol dependence risk locus
Lappalainen J, Kranzler HR, Petrakis I, Somberg LK, Page G, Krystal JH, Gelernter J. Confirmation and fine mapping of the chromosome 1 alcohol dependence risk locus. Molecular Psychiatry 2004, 9: 312-319. PMID: 15094791, DOI: 10.1038/sj.mp.4001429.Peer-Reviewed Original ResearchConceptsTransmission disequilibrium testNovel candidate genesSTR markersTransmission disequilibriumShort tandem repeat markersGenetic linkage studiesFine mappingRepeat markersTandem repeat markersCandidate genesChromosome 1Linkage signalMap intervalSmall nuclear familiesBase pairsGenesLinkage disequilibriumLinkage findingsSusceptibility genesDNA base pairsLinkage studiesSupport intervalBP intervalChromosome 1pDisequilibrium testNOTCH4 gene haplotype is associated with schizophrenia in African Americans
Luo X, Klempan TA, Lappalainen J, Rosenheck RA, Charney DS, Erdos J, van Kammen DP, Kranzler HR, Kennedy JL, Gelernter J. NOTCH4 gene haplotype is associated with schizophrenia in African Americans. Biological Psychiatry 2004, 55: 112-117. PMID: 14732589, DOI: 10.1016/s0006-3223(03)00588-2.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBlack or African AmericanChi-Square DistributionCysteineDiagnostic and Statistical Manual of Mental DisordersFemaleGene FrequencyGenotypeGlycineHaplotypesHumansLinkage DisequilibriumMalePolymerase Chain ReactionPolymorphism, Single NucleotideProto-Oncogene ProteinsReceptor, Notch4Receptors, Cell SurfaceReceptors, NotchSchizophreniaThreonineConceptsHealthy control subjectsControl subjectsSingle nucleotide polymorphismsExact testSchizophrenia patientsAfrican AmericansFisher's exact testNOTCH4 locusChi-square testComparison of alleleEuropean-American subjectsPositive linkage disequilibriumAA subjectsPatientsSchizophreniaSpecific markersHaplotype frequenciesT associatesLinkage disequilibriumEA subjectsNOTCH4 geneSubjectsGene haplotypesAmerican subjectsNucleotide polymorphisms
2003
CALCYON gene variation, schizophrenia, and cocaine dependence
Luo X, Kranzler H, Lappalainen J, Rosenheck R, Charney D, Zuo L, Erdos J, van Kammen DP, Gelernter J. CALCYON gene variation, schizophrenia, and cocaine dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2003, 125B: 25-30. PMID: 14755439, DOI: 10.1002/ajmg.b.20092.Peer-Reviewed Original ResearchConceptsCocaine dependenceSingle nucleotide polymorphismsExact testEA subjectsFisher's exact testSubstance use disordersCalcyon geneDopamine receptor-interacting proteinsComparison of alleleUse disordersEuropean-American subjectsControl groupAA subjectsSchizophreniaReceptor-interacting proteinHaplotype frequenciesPotential roleSpecific polymorphismsMotor controlGene variationSame haplotype blockGenetic variantsSubjectsNucleotide polymorphismsLinkage disequilibriumThe Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity
Zabetian CP, Buxbaum SG, Elston RC, Köhnke MD, Anderson GM, Gelernter J, Cubells JF. The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity. American Journal Of Human Genetics 2003, 72: 1389-1400. PMID: 12730829, PMCID: PMC1180300, DOI: 10.1086/375499.Peer-Reviewed Original ResearchConceptsQuantitative trait lociHuman genomeDBH locusLow haplotype diversityTotal phenotypic varianceLarge-scale association studiesLinkage disequilibrium mappingDiallelic markersPutative functional polymorphismsComplex traitsHaplotype diversityGenomewide scaleObserved chromosomesHaplotype mapPhenotypic varianceGenomewide basisDegree of LDAssociation studiesDisequilibrium mappingUpstream regionHaplotype blocksLinkage disequilibriumLociDistinct populationsGenomeSynonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
Duan J, Wainwright MS, Comeron JM, Saitou N, Sanders AR, Gelernter J, Gejman PV. Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor. Human Molecular Genetics 2003, 12: 205-216. PMID: 12554675, DOI: 10.1093/hmg/ddg055.Peer-Reviewed Original ResearchConceptsSynonymous mutationsMRNA stabilitySynonymous variationMolecular population geneticsSynonymous codon usage biasThird codon positionCodon usage biasNovel genetic mechanismGene mapping studiesStructure of proteinsFunctional effectsSynonymous positionsPopulation geneticsSynonymous changesUsage biasCodon positionsDNA sequencesNucleotide sequenceGenetic mechanismsComplex inheritanceNucleotide substitutionsDopamine receptor D2Linkage disequilibriumEuropean American populationFunctional consequences
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
Family‐Based study of DRD2 alleles in alcohol and drug dependence
Blomqvist O, Gelernter J, Kranzler H. Family‐Based study of DRD2 alleles in alcohol and drug dependence. American Journal Of Medical Genetics 2000, 96: 659-664. PMID: 11054774, DOI: 10.1002/1096-8628(20001009)96:5<659::aid-ajmg12>3.0.co;2-g.Peer-Reviewed Original ResearchConceptsCase-control studyDrug dependenceAlcohol dependenceFamily-based studySubstance dependenceRecent family-based studyNumerous case-control studiesDSM-IV criteriaDopamine D2 receptor geneDRD2 allelesPresent studyD2 receptor geneDSM-IIIVariant allelesTransmission disequilibrium testConflicting resultsReceptor geneNegative resultsPositive associationEuropean AmericansTaqI AEuropean ancestryLinkage disequilibriumDisequilibrium testSmall nuclear families
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 populationEvidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder
McDougle CJ, Epperson CN, Price LH, Gelernter J. Evidence for linkage disequilibrium between serotonin transporter protein gene (SLC6A4) and obsessive compulsive disorder. Molecular Psychiatry 1998, 3: 270-273. PMID: 9672904, DOI: 10.1038/sj.mp.4000391.Peer-Reviewed Original ResearchConceptsObsessive-compulsive disorderCompulsive disorderTreatment of OCDSerotonin transporter proteinHeterozygous parentsMedication targetsDrug nonrespondersMeasures of anxietyInhibitor drugsProtein expressionSerotonin transporter protein geneSLC6A4 allelesLinkage disequilibriumBehavioral phenotypes
1997
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects
Gelernter J, Kranzler H, Cubells J. Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects. Human Genetics 1997, 101: 243-246. PMID: 9402979, DOI: 10.1007/s004390050624.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAllelesAsian PeopleBlack PeopleCarrier ProteinsEuropeFemaleGene FrequencyHaplotypesHumansJapanLinkage DisequilibriumMaleMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsPolymorphism, GeneticSerotonin Plasma Membrane Transport ProteinsUnited StatesWhite PeopleConceptsPairs of populationsRandom genetic driftHaplotype frequenciesAlters transcriptional activityDifferent behavioral adaptationsAllele frequenciesGenetic driftVariable number tandem repeatGenetic variationSequence polymorphismsTranscriptional activityPromoter regionBehavioral variationNeutral polymorphismsAssociation studiesTandem repeatsNumber tandem repeatSLC6A4 locusDepression-related traitsProtein allelesLinkage disequilibriumLociPopulation differencesPopulation stratificationExon 2