2024
Application of polygenic scores to a deeply phenotyped sample enriched for substance use disorders reveals extensive pleiotropy with psychiatric and somatic traits
Hartwell E, Jinwala Z, Milone J, Ramirez S, Gelernter J, Kranzler H, Kember R. Application of polygenic scores to a deeply phenotyped sample enriched for substance use disorders reveals extensive pleiotropy with psychiatric and somatic traits. Neuropsychopharmacology 2024, 49: 1958-1967. PMID: 39043921, PMCID: PMC11480112, DOI: 10.1038/s41386-024-01922-2.Peer-Reviewed Original ResearchSubstance use disordersPost-traumatic stress disorderGeneralized anxiety disorderGenetic liabilityPolygenic scoresBipolar disorderSubstance use phenotypesSomatic traitsBody mass indexSubstance use categoriesEffect of genetic liabilityAnxiety disordersDepression-relatedDepressive disorderApplication of polygenic scoresStress disorderPsychiatric disordersPsychiatric phenotypesUse disorderPhenome-wide association studyGenetic influencesCross-sectional sampleMedical illnessPrecision medicine effortsPhenotyped sample
2020
Multivariate genome-wide analysis of education, socioeconomic status and brain phenome
Wendt FR, Pathak GA, Lencz T, Krystal JH, Gelernter J, Polimanti R. Multivariate genome-wide analysis of education, socioeconomic status and brain phenome. Nature Human Behaviour 2020, 5: 482-496. PMID: 33349686, PMCID: PMC8068566, DOI: 10.1038/s41562-020-00980-y.Peer-Reviewed Original ResearchConceptsPsychosocial factorsSocioeconomic statusPsychiatric disordersBipolar disorderGenetic riskNeuronal cell typesMajor depressionTourette syndromeBrain morphologyDisordersImaging phenotypesCell typesRisky behaviorsPsychopathologyGenetic overlapRiskGenetic discoveriesPsychiatric traitsStatusSyndrome
2017
Trauma exposure interacts with the genetic risk of bipolar disorder in alcohol misuse of US soldiers
Polimanti R, Kaufman J, Zhao H, Kranzler HR, Ursano RJ, Kessler RC, Stein MB, Gelernter J. Trauma exposure interacts with the genetic risk of bipolar disorder in alcohol misuse of US soldiers. Acta Psychiatrica Scandinavica 2017, 137: 148-156. PMID: 29230810, PMCID: PMC6110087, DOI: 10.1111/acps.12843.Peer-Reviewed Original ResearchConceptsBD polygenic risk scorePolygenic risk scoresAlcohol misuseBipolar disorderTrauma exposurePsychiatric disordersGenetic riskMajor depressive disorderNicotine dependence symptomsSubstance use disordersSchizophrenia polygenic risk scoresVoltage-gated calcium channel activityCalcium channel activityUS Army soldiersBeta2-adrenergic receptorDepressive disorderRisk scoreUse disordersAdrenergic receptorsMental disordersSubstance abuseDisordersDependence symptomsChannel activityExposureGenomewide association studies of suicide attempts in US soldiers
Stein MB, Ware EB, Mitchell C, Chen C, Borja S, Cai T, Dempsey CL, Fullerton CS, Gelernter J, Heeringa SG, Jain S, Kessler RC, Naifeh JA, Nock MK, Ripke S, Sun X, Beckham JC, Kimbrel NA, VA Mid‐Atlantic Mental Illness Research E, Ursano RJ, Smoller JW. Genomewide association studies of suicide attempts in US soldiers. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2017, 174: 786-797. PMID: 28902444, PMCID: PMC5685938, DOI: 10.1002/ajmg.b.32594.Peer-Reviewed Original ResearchConceptsSuicide attemptsPlausible susceptibility geneGlobal public health problemPeak SNPPolygenic risk score analysisPublic health problemGenomewide association studiesSignificant SNPsSignificant lociGenetic risk factorsLogistic regression modelsUS military personnelAncestral groupsAssociation studiesGenomewide associationRecent suicide attemptersSusceptibility genesRisk factorsAdrenal cortexCase-control sampleRisk score analysisAncestral subgroupsLarger sample sizeBipolar disorderHealth problems
2011
The association of genetic variation in CACNA1C with structure and function of a frontotemporal system
Wang F, McIntosh AM, He Y, Gelernter J, Blumberg HP. The association of genetic variation in CACNA1C with structure and function of a frontotemporal system. Bipolar Disorders 2011, 13: 696-700. PMID: 22085483, PMCID: PMC3233238, DOI: 10.1111/j.1399-5618.2011.00963.x.Peer-Reviewed Original ResearchConceptsBipolar disorderFrontotemporal neural systemFunctional connectivityGG groupHigh-resolution structural magnetic resonance imaging scanMagnetic resonance imaging (MRI) scansNeural system effectsStructural magnetic resonance imaging (MRI) scansResonance imaging scansFunctional MRI scansGray matter volumeFunctional connectivity analysisNeural systemsGray matter morphologyCorticolimbic structuresImaging scansHigh riskMatter volumeMRI scansCACNA1C variationNeural circuitryCACNA1C geneSingle nucleotide polymorphismsConnectivity analysisAssociation
2008
Role of Variation in the Serotonin Transporter Protein Gene (SLC6A4) in Trait Disturbances in the Ventral Anterior Cingulate in Bipolar Disorder
Shah MP, Wang F, Kalmar JH, Chepenik LG, Tie K, Pittman B, Jones MM, Constable RT, Gelernter J, Blumberg HP. Role of Variation in the Serotonin Transporter Protein Gene (SLC6A4) in Trait Disturbances in the Ventral Anterior Cingulate in Bipolar Disorder. Neuropsychopharmacology 2008, 34: 1301-1310. PMID: 19037205, PMCID: PMC2826628, DOI: 10.1038/npp.2008.204.Peer-Reviewed Original ResearchConceptsVentral anterior cingulate cortexBipolar disorderFeatures of BDS carriersAnterior cingulate cortexVentral anterior cingulateEvent-related functional magnetic resonanceFunctional magnetic resonanceTransporter promoter polymorphismSerotonergic systemBD subgroupsHealthy comparison participantsBD groupVACC activationHC groupPromoter polymorphismFuture treatmentHealthy individualsAnterior cingulateCingulate cortexNeural systemsFunctional connectivityDysfunctionSerotonin transporter protein geneAmygdala activationAssociation of psychiatric and substance use disorder comorbidity with cocaine dependence severity and treatment utilization in cocaine-dependent individuals
Ford JD, Gelernter J, DeVoe JS, Zhang W, Weiss RD, Brady K, Farrer L, Kranzler HR. Association of psychiatric and substance use disorder comorbidity with cocaine dependence severity and treatment utilization in cocaine-dependent individuals. Drug And Alcohol Dependence 2008, 99: 193-203. PMID: 18775607, PMCID: PMC2745327, DOI: 10.1016/j.drugalcdep.2008.07.004.Peer-Reviewed Original ResearchConceptsCocaine dependence severitySubstance use disordersTreatment utilizationSelf-help group participationDependence severityPsychiatric disordersUse disordersCo-occurring substance dependenceMajor depressive disorderSubstance dependence disordersAssociation of psychiatricLogistic regression analysisCocaine dependence treatmentPosttraumatic stress disorderSemi-Structured AssessmentAntisocial personality disorderHeavy cocaine useClinical managementDependence treatmentDepressive disorderDisorder comorbidityService utilizationCocaine-dependent individualsDependence disordersBipolar disorderEffects of the Brain-Derived Neurotrophic Growth Factor Val66Met Variation on Hippocampus Morphology in Bipolar Disorder
Chepenik LG, Fredericks C, Papademetris X, Spencer L, Lacadie C, Wang F, Pittman B, Duncan JS, Staib LH, Duman RS, Gelernter J, Blumberg HP. Effects of the Brain-Derived Neurotrophic Growth Factor Val66Met Variation on Hippocampus Morphology in Bipolar Disorder. Neuropsychopharmacology 2008, 34: 944-951. PMID: 18704093, PMCID: PMC2837582, DOI: 10.1038/npp.2008.107.Peer-Reviewed Original ResearchConceptsSmaller hippocampus volumesHippocampus volumeBipolar disorderBDNF genotypeBD diagnosisMood disorder pathophysiologyBDNF Val66Met polymorphismHigh-resolution magnetic resonanceHealthy comparison subjectsVal/Val homozygotesEffect of diagnosisLinear mixed model analysisVal66Met polymorphismGrowth factor proteinBD subgroupsDisorder pathophysiologyHC subjectsHippocampal developmentComparison subjectsMixed model analysisHippocampus structureBDNFHippocampus morphologyAnterior hippocampusVal homozygotes