2024
Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations
Gelernter J, Levey D, Galimberti M, Harrington K, Zhou H, Adhikari K, Gupta P, Program V, Gaziano J, Eliott D, Stein M. Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations. Cell Genomics 2024, 4: 100582. PMID: 38870908, PMCID: PMC11228954, DOI: 10.1016/j.xgen.2024.100582.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMillion Veteran ProgramRisk lociAssociation studiesTrans-ancestry meta-analysisSignificant risk lociPathway enrichment analysisEpiretinal membraneTrans-ancestryGenome-wideMultiple traitsGenetic associationEnrichment analysisGene expressionEuropean AmericansLoss of visual acuityVeteran ProgramGenetic correlationsLociBiological mechanismsAmerican populationVisual acuityRetinal conditionsControl individualsRetinal surface
2020
Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals
Xu K, Li B, McGinnis KA, Vickers-Smith R, Dao C, Sun N, Kember RL, Zhou H, Becker WC, Gelernter J, Kranzler HR, Zhao H, Justice AC. Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals. Nature Communications 2020, 11: 5302. PMID: 33082346, PMCID: PMC7598939, DOI: 10.1038/s41467-020-18489-3.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesLarge genome-wide association studiesMillion Veteran ProgramAssociation studiesExpression quantitative trait lociQuantitative trait lociChromatin interactionsComplex traitsFunctional annotationTrait lociSequencing ConsortiumDozen genesSignificant lociSmoking phenotypesLociMultiple populationsNew insightsPhenotypeVeteran ProgramGenetic vulnerabilityGenesTraitsAnnotationEuropean AmericansConsortium
2018
Genome-wide analysis of insomnia disorder
Stein MB, McCarthy MJ, Chen CY, Jain S, Gelernter J, He F, Heeringa SG, Kessler RC, Nock MK, Ripke S, Sun X, Wynn GH, Smoller JW, Ursano RJ. Genome-wide analysis of insomnia disorder. Molecular Psychiatry 2018, 23: 2238-2250. PMID: 29520036, PMCID: PMC6129221, DOI: 10.1038/s41380-018-0033-5.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlack or African AmericanCohort StudiesDepressive Disorder, MajorDiabetes Mellitus, Type 2FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHispanic or LatinoHumansMaleMilitary PersonnelMultifactorial InheritancePolymorphism, Single NucleotideRisk FactorsSleep Initiation and Maintenance DisordersWhite PeopleYoung AdultConceptsGenome-wide association studiesAncestral groupsGenome-wide significant lociGenome-wide analysisGene-based associationSignificant gene-based associationsSleep-related traitsGenetic risk variantsSignificant lociChr 7Heritable basisChr 9Association studiesRisk variantsGenetic contributionLociUK BiobankMetabolic diseasesRFX3Genetic riskTraitsHeritabilityPolygenic riskTwin studiesDeleterious health effects
2009
Subtypes of major depression in substance dependence
Niciu MJ, Chan G, Gelernter J, Arias AJ, Douglas K, Weiss R, Anton RF, Farrer L, Cubells JF, Kranzler HR. Subtypes of major depression in substance dependence. Addiction 2009, 104: 1700-1709. PMID: 19681804, PMCID: PMC2980795, DOI: 10.1111/j.1360-0443.2009.02672.x.Peer-Reviewed Original ResearchMeSH KeywordsAcademic Medical CentersAdolescentAdultAge FactorsAnxiety DisordersBlack or African AmericanComorbidityData Interpretation, StatisticalDepressive Disorder, MajorFemaleHispanic or LatinoHumansInterview, PsychologicalLogistic ModelsMaleRecurrenceSocioeconomic FactorsSubstance-Related DisordersSuicide, AttemptedWhite PeopleYoung AdultConceptsMajor depressive episodeSubstance dependenceMDE subtypesDrug dependenceRelated clinical featuresPotential therapeutic implicationsSubstance use disordersAcademic medical centerGreater psychiatric severitySemi-Structured AssessmentClinical featuresDepressive episodeMajor depressionMedical CenterSecondary data analysisDepressive symptomsDiagnostic criteriaPsychiatric severityTherapeutic implicationsUse disordersSubtypesAnxiety disordersPsychiatric measuresCase-control genetic studyCommunity recruitmentMeasurement of admixture proportions and description of admixture structure in different U.S. populations
Halder I, Yang B, Kranzler HR, Stein MB, Shriver MD, Gelernter J. Measurement of admixture proportions and description of admixture structure in different U.S. populations. Human Mutation 2009, 30: 1299-1309. PMID: 19572378, PMCID: PMC2867064, DOI: 10.1002/humu.21045.Peer-Reviewed Original Research
2006
Mutation screen of the GAD2 gene and association study of alcoholism in three populations
Lappalainen J, Krupitsky E, Kranzler HR, Luo X, Remizov M, Pchelina S, Taraskina A, Zvartau E, Räsanen P, Makikyro T, Somberg LK, Krystal JH, Stein MB, Gelernter J. Mutation screen of the GAD2 gene and association study of alcoholism in three populations. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2006, 144B: 183-192. PMID: 17034009, DOI: 10.1002/ajmg.b.30377.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismBlack or African AmericanCase-Control StudiesDNA Mutational AnalysisExonsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic TestingGlutamate DecarboxylaseHispanic or LatinoHumansIsoenzymesLinkage DisequilibriumMaleMutationPolymorphism, Single NucleotideStudentsUnited StatesWhite PeopleConceptsSingle nucleotide polymorphismsGAD2 geneNon-synonymous polymorphismsAssociation studiesSequence variantsGamma-amino butyric acidGlutamate decarboxylase 2GenesMutation screenNucleotide polymorphismsAdditional populationsMajor enzymeG single nucleotide polymorphismPolymorphismG variantButyric acidPopulationVariantsEnzymeAdditional samplesRoleRussian malesVariationScreenDHPLC