2020
A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction
Sun J, Kranzler HR, Gelernter J, Bi J. A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and gene–environment interaction. Journal Of Psychiatry And Neuroscience 2020, 45: 34-44. PMID: 31490055, PMCID: PMC6919916, DOI: 10.1503/jpn.180098.Peer-Reviewed Original ResearchConceptsGenetic lociGenome-wide association testsPhenotypic heterogeneityNew genetic lociGenetic variantsWide association studyGene-environment interplayNovel genetic variantsHigh heritability estimatesSignificant genomeReplication sampleSingle nucleotide polymorphismsGenetic variationAssociation studiesLociNucleotide polymorphismsAssociation TestHeritability estimatesGene-environment interactionsReplication resultsCluster analysisEnvironmental factorsTRAK2GenomeDiscovery phase
2015
Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence
Hancock DB, Reginsson GW, Gaddis NC, Chen X, Saccone NL, Lutz SM, Qaiser B, Sherva R, Steinberg S, Zink F, Stacey SN, Glasheen C, Chen J, Gu F, Frederiksen BN, Loukola A, Gudbjartsson DF, Brüske I, Landi MT, Bickeböller H, Madden P, Farrer L, Kaprio J, Kranzler HR, Gelernter J, Baker TB, Kraft P, Amos CI, Caporaso NE, Hokanson JE, Bierut LJ, Thorgeirsson TE, Johnson EO, Stefansson K. Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. Translational Psychiatry 2015, 5: e651-e651. PMID: 26440539, PMCID: PMC4930126, DOI: 10.1038/tp.2015.149.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesEuropean ancestry samplesNonsense-mediated decayWide significant associationsNicotinic receptor subunit geneReceptor subunit genesImportant regulatory propertiesNicotine dependenceSubunit geneAssociation studiesChromosome 20q13Regulatory propertiesLung cancer riskNovel variantsNormal human brainSmoking-related consequencesLung cancerCancer riskFagerström TestCHRNA4Smoking behaviorSignificant associationVariantsGenomeGenesDissecting ancestry genomic background in substance dependence genome-wide association studies
Polimanti R, Yang C, Zhao H, Gelernter J. Dissecting ancestry genomic background in substance dependence genome-wide association studies. Pharmacogenomics 2015, 16: 1487-1498. PMID: 26267224, PMCID: PMC4632979, DOI: 10.2217/pgs.15.91.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAlgorithmsAllelesBlack or African AmericanGene FrequencyGene-Environment InteractionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHaplotypesHumansMolecular Sequence AnnotationOpioid-Related DisordersSubstance-Related DisordersTobacco Use DisorderWhite PeopleConceptsGenome-wide association studiesGenomic backgroundFunctional allelesAssociation studiesCommon functional allelesWide association studyLocal haplotype structureGenetic lociSD traitHaplotype structureRelevant genesGenesLociInteractive partnersPopulation diversityHigh frequency differencesAllelesFrequency differenceGenomeTraitsDiversityRoleVariants
2014
Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence
Li D, Zhao H, Kranzler HR, Li MD, Jensen KP, Zayats T, Farrer LA, Gelernter J. Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence. Neuropsychopharmacology 2014, 40: 1016-1026. PMID: 25345593, PMCID: PMC4330517, DOI: 10.1038/npp.2014.290.Peer-Reviewed Original ResearchMeSH KeywordsAlpha CateninChromosome DeletionChromosome DisordersChromosomes, Human, Pair 18DNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLeukocyte Common AntigensMaleMeta-Analysis as TopicOpioid-Related DisordersReceptor-Like Protein Tyrosine Phosphatases, Class 2ConceptsCopy number variationsAssociation studiesNumber variationsGenome-wide association studiesWide association studyUnique copy number variationsCommon copy number variationFirst GWASHarbor genesMissing heritabilityHuman genomeGenomic variationBiological importanceGenomeGenesGenetic risk factorsHeritabilitySubstance dependence riskGWASDuplicationDeletionReplicationPolymorphismVariationSmall proportion
2013
The Role and Challenges of Exome Sequencing in Studies of Human Diseases
Wang Z, Liu X, Yang BZ, Gelernter J. The Role and Challenges of Exome Sequencing in Studies of Human Diseases. Frontiers In Genetics 2013, 4: 160. PMID: 24032039, PMCID: PMC3752524, DOI: 10.3389/fgene.2013.00160.Peer-Reviewed Original ResearchHuman diseasesSequencing dataExome sequencingGenetic studiesProtein-coding portionNext-generation sequencing technologiesLow-frequency variantsComplex traitsExome sequencing dataHuman genomeSequencing technologiesExonic regionsTarget enrichmentFrequency variantsMendelian disordersSequencingTargeted sequencingVariant callsTarget regionRare variantsGenotype concordanceVariantsGenomeRecent advancesOverall consistency rate
2012
Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes
Webb BT, Guo AY, Maher BS, Zhao Z, van den Oord EJ, Kendler KS, Riley BP, Gillespie NA, Prescott CA, Middeldorp CM, Willemsen G, de Geus EJ, Hottenga JJ, Boomsma DI, Slagboom EP, Wray NR, Montgomery GW, Martin NG, Wright MJ, Heath AC, Madden PA, Gelernter J, Knowles JA, Hamilton SP, Weissman MM, Fyer AJ, Huezo-Diaz P, McGuffin P, Farmer A, Craig IW, Lewis C, Sham P, Crowe RR, Flint J, Hettema JM. Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes. European Journal Of Human Genetics 2012, 20: 1078-1084. PMID: 22473089, PMCID: PMC3449070, DOI: 10.1038/ejhg.2012.47.Peer-Reviewed Original ResearchConceptsGenome-wide linkage scanGenome-wide linkage dataGenome-wide association dataGenome-wide significanceAnxiety-related phenotypesGenomic regionsLinkage scanCM intervalChromosome 1Studies of neuroticismFalse discovery rate analysisChromosome 9Association dataLinkage dataPhenotypeMeta-analysis approachConsistent signalFDR thresholdGenetic factorsGenetic susceptibilitySuch hypothesesGenomeValuable approachGenesTraits
2003
The 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 populationsGenome