2022
A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality
Verma A, Minnier J, Wan ES, Huffman JE, Gao L, Joseph J, Ho YL, Wu WC, Cho K, Gorman BR, Rajeevan N, Pyarajan S, Garcon H, Meigs JB, Sun YV, Reaven PD, McGeary JE, Suzuki A, Gelernter J, Lynch JA, Petersen JM, Zekavat SM, Natarajan P, Dalal S, Jhala DN, Arjomandi M, Gatsby E, Lynch KE, Bonomo RA, Freiberg M, Pathak GA, Zhou JJ, Donskey CJ, Madduri RK, Wells QS, Huang R, Polimanti R, Chang KM, Liao KP, Tsao PS, Wilson PWF, Hung A, O’Donnell C, Gaziano JM, Hauger RL, Iyengar S, Luoh SW, Initiative T. A MUC5B Gene Polymorphism, rs35705950-T, Confers Protective Effects Against COVID-19 Hospitalization but Not Severe Disease or Mortality. American Journal Of Respiratory And Critical Care Medicine 2022, 206: 1220-1229. PMID: 35771531, PMCID: PMC9746845, DOI: 10.1164/rccm.202109-2166oc.Peer-Reviewed Original ResearchMeSH KeywordsCOVID-19Genetic Predisposition to DiseaseGenotypeHospitalizationHumansIdiopathic Pulmonary FibrosisMucin-5BPolymorphism, GeneticConceptsCOVID-19 hospitalizationIdiopathic pulmonary fibrosisMillion Veteran ProgramHost Genetics InitiativeAcute respiratory syndrome coronavirus 2 infectionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infectionGene polymorphismsSyndrome coronavirus 2 infectionCoronavirus 2 infectionConfer protective effectsCOVID-19 positivityCoronavirus disease (COVID-19) infectionElectronic health recordsMVP subjectsPneumonia eventsClinical outcomesPulmonary fibrosisCOVID-19 Host Genetics InitiativeClinical eventsSevere outcomesProtective effectSevere diseaseRs35705950Disease severityMVP participants
2019
Differentiating Types of Self-Reported Alcohol Abstinence
Gordon KS, McGinnis K, Dao C, Rentsch CT, Small A, Smith RV, Kember RL, Gelernter J, Kranzler HR, Bryant KJ, Tate JP, Justice AC. Differentiating Types of Self-Reported Alcohol Abstinence. AIDS And Behavior 2019, 24: 655-665. PMID: 31435887, PMCID: PMC6994373, DOI: 10.1007/s10461-019-02638-x.Peer-Reviewed Original ResearchConceptsLifetime abstainersSelf-reported alcohol abstinenceAlcohol biomarkersGenetic polymorphismsLogistic regression modelsHepatitis CAlcohol abstinenceUninfected individualsCharacteristics of peopleAlcohol useAbstinenceHealth effectsSmokingAbstainersBiomarkersRegression modelsOddsAssociationPLWHPolymorphismHIVCocaineApolipoprotein E gene polymorphism, posttraumatic stress disorder, and cognitive function in older U.S. veterans: Results from the National Health and Resilience in Veterans Study
Averill LA, Abdallah CG, Levey DF, Han S, Harpaz‐Rotem I, Kranzler HR, Southwick SM, Krystal JH, Gelernter J, Pietrzak RH. Apolipoprotein E gene polymorphism, posttraumatic stress disorder, and cognitive function in older U.S. veterans: Results from the National Health and Resilience in Veterans Study. Depression And Anxiety 2019, 36: 834-845. PMID: 31385647, DOI: 10.1002/da.22912.Peer-Reviewed Original ResearchConceptsPosttraumatic stress disorderExecutive functionCognitive functioningStress disorderΕ4 carrier statusΕ4 carriersVeterans StudyCognitive dysfunctionAttention/concentrationGreater cognitive difficultiesLower cognitive functioningOlder U.S. veteransΕ4 allele carrier statusPerseverative errorsCognitive difficultiesReplication sampleCarrier statusCognitive functionImportance of assessingNational HealthCognitive declinePredictive effectApolipoprotein E gene polymorphismE gene polymorphismΕ4 allele carriers
2017
Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B
Justice AC, McGinnis KA, Tate JP, Xu K, Becker WC, Zhao H, Gelernter J, Kranzler HR. Validating Harmful Alcohol Use as a Phenotype for Genetic Discovery Using Phosphatidylethanol and a Polymorphism in ADH1B. Alcohol Clinical And Experimental Research 2017, 41: 998-1003. PMID: 28295416, PMCID: PMC5501250, DOI: 10.1111/acer.13373.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DehydrogenaseAlcohol-Related DisordersCohort StudiesFemaleGlycerophospholipidsHumansLongitudinal StudiesMalePhenotypePolymorphism, GeneticVeteransConceptsHarmful alcohol useAlcohol exposureAlcohol useElectronic health record dataEHR dataAUDIT-C scoresHealth record dataLongitudinal electronic health record dataLongitudinal trajectoriesChi-square testEHR-derived phenotypesStudy cohortBlood drawCommon missense polymorphismGenetic risk variantsBlood samplingMissense polymorphismAlcohol riskQuantitative biomarkersRecord dataMedianRisk variantsOverall sampleAfrican AmericansADH1B gene
2014
SLC6A4 polymorphism, population genetics, and psychiatric traits
Gelernter J. SLC6A4 polymorphism, population genetics, and psychiatric traits. Human Genetics 2014, 133: 459-461. PMID: 24385047, PMCID: PMC3992709, DOI: 10.1007/s00439-013-1412-2.Peer-Reviewed Original ResearchMeSH KeywordsGenetics, PopulationHumansMental DisordersPolymorphism, GeneticSerotonin Plasma Membrane Transport ProteinsRare Human Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) Variants Affect Expression and Function of High-Affinity Nicotinic Acetylcholine Receptors
McClure-Begley TD, Papke RL, Stone KL, Stokes C, Levy AD, Gelernter J, Xie P, Lindstrom J, Picciotto MR. Rare Human Nicotinic Acetylcholine Receptor α4 Subunit (CHRNA4) Variants Affect Expression and Function of High-Affinity Nicotinic Acetylcholine Receptors. Journal Of Pharmacology And Experimental Therapeutics 2014, 348: 410-420. PMID: 24385388, PMCID: PMC3935145, DOI: 10.1124/jpet.113.209767.Peer-Reviewed Original ResearchConceptsNicotinic acetylcholine receptorsRare variantsSingle amino acid substitutionLaevis oocytesAmino acid substitutionsΑ4β2 nAChRsAcetylcholine receptorsIntracellular interactomesHEK-293 cellsX. laevis oocytesProteomic analysisGenetic variationHuman α4β2 nAChRsXenopus laevis oocytesVoltage-clamp electrophysiologyNeuronal nicotinic acetylcholine receptorsHigh-affinity nicotinic acetylcholine receptorsSubcellular distributionAcid substitutionsΑ4 nAChR subunitCohort of smokersEffects of nicotineNAChR subunitsCommon variantsΑ4 nAChR
2012
Examining the relation between the serotonin transporter 5-HTTPLR genotype x trauma exposure interaction on a contemporary phenotypic model of posttraumatic stress symptomatology: A pilot study
Pietrzak RH, Galea S, Southwick SM, Gelernter J. Examining the relation between the serotonin transporter 5-HTTPLR genotype x trauma exposure interaction on a contemporary phenotypic model of posttraumatic stress symptomatology: A pilot study. Journal Of Affective Disorders 2012, 148: 123-128. PMID: 23183127, PMCID: PMC3604029, DOI: 10.1016/j.jad.2012.11.003.Peer-Reviewed Original ResearchAdolescentAdultAgedAged, 80 and overCyclonic StormsDisastersFemaleGene-Environment InteractionGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedModels, GeneticPhenotypePilot ProjectsPolymorphism, GeneticQualitative ResearchSerotonin Plasma Membrane Transport ProteinsStress Disorders, Post-TraumaticYoung AdultThe relationship between risk-taking propensity and the COMT Val158Met polymorphism among early adolescents as a function of sex
Amstadter AB, MacPherson L, Wang F, Banducci AN, Reynolds EK, Potenza MN, Gelernter J, Lejuez CW. The relationship between risk-taking propensity and the COMT Val158Met polymorphism among early adolescents as a function of sex. Journal Of Psychiatric Research 2012, 46: 940-945. PMID: 22575334, PMCID: PMC3687344, DOI: 10.1016/j.jpsychires.2012.04.010.Peer-Reviewed Original Research
2010
Variation in the gene encoding the serotonin transporter is associated with a measure of sociopathy in alcoholics
Herman AI, Conner TS, Anton RF, Gelernter J, Kranzler HR, Covault J. Variation in the gene encoding the serotonin transporter is associated with a measure of sociopathy in alcoholics. Addiction Biology 2010, 16: 124-132. PMID: 20192950, PMCID: PMC2888710, DOI: 10.1111/j.1369-1600.2009.00197.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholics AnonymousAlcoholismAllelesAntisocial Personality DisorderCognitive Behavioral TherapyFemaleGene FrequencyGenetic VariationGenotypeHumansMaleMiddle AgedMotivationPersonality InventoryPolymorphism, GeneticPsychotherapySerotonin Plasma Membrane Transport ProteinsSex FactorsConceptsAlcohol dependenceAlcohol use disorderAlcohol Treatment TrialSerotonin transporter proteinSocialization scoresTreatment trialsPsychiatric disordersUse disordersInsertion-deletion polymorphismTri-allelicInventory scoresSerotonin transporterSingle nucleotide polymorphismsWomenLower socialization scoresProject MATCHRegression analysisScoresShort alleleSerotonin Transporter Gene Associations With Psychopathic Traits in Youth Vary as a Function of Socioeconomic Resources
Sadeh N, Javdani S, Jackson JJ, Reynolds EK, Potenza MN, Gelernter J, Lejuez CW, Verona E. Serotonin Transporter Gene Associations With Psychopathic Traits in Youth Vary as a Function of Socioeconomic Resources. Journal Of Psychopathology And Clinical Science 2010, 119: 604-609. PMID: 20677849, PMCID: PMC2916190, DOI: 10.1037/a0019709.Peer-Reviewed Original Research
2009
Interactive Effect of Stressful Life Events and the Serotonin Transporter 5-HTTLPR Genotype on Posttraumatic Stress Disorder Diagnosis in 2 Independent Populations
Xie P, Kranzler HR, Poling J, Stein MB, Anton RF, Brady K, Weiss RD, Farrer L, Gelernter J. Interactive Effect of Stressful Life Events and the Serotonin Transporter 5-HTTLPR Genotype on Posttraumatic Stress Disorder Diagnosis in 2 Independent Populations. JAMA Psychiatry 2009, 66: 1201-1209. PMID: 19884608, PMCID: PMC2867334, DOI: 10.1001/archgenpsychiatry.2009.153.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedBlack or African AmericanChildChild AbuseCross-Sectional StudiesDiagnostic and Statistical Manual of Mental DisordersFemaleGenetic Predisposition to DiseaseGenotypeHomozygoteHumansLife Change EventsMaleMiddle AgedPolymorphism, GeneticPsychiatric Status Rating ScalesRisk FactorsSerotonin Plasma Membrane Transport ProteinsSocial EnvironmentStress Disorders, Post-TraumaticSubstance-Related DisordersWhite PeopleConceptsAdult traumatic eventsPosttraumatic stress disorderLifetime posttraumatic stress disorderChildhood adversityStressful life eventsTraumatic eventsDSM-IV diagnostic criteriaOnset of PTSDCross-sectional studyStress disorder diagnosisPosttraumatic stress disorder (PTSD) diagnosisLogistic regression modelingLife eventsSemi-Structured AssessmentEtiology of PTSDAdverse eventsAfrican American individualsDepressive symptomsDiagnostic criteriaSerotonin transporter geneDrug dependenceTrauma exposureStress disorderGene x environment interactionsSubstance dependenceInteraction of Childhood Maltreatment with the Corticotropin-Releasing Hormone Receptor Gene: Effects on Hypothalamic-Pituitary-Adrenal Axis Reactivity
Tyrka AR, Price LH, Gelernter J, Schepker C, Anderson GM, Carpenter LL. Interaction of Childhood Maltreatment with the Corticotropin-Releasing Hormone Receptor Gene: Effects on Hypothalamic-Pituitary-Adrenal Axis Reactivity. Biological Psychiatry 2009, 66: 681-685. PMID: 19596121, PMCID: PMC2881567, DOI: 10.1016/j.biopsych.2009.05.012.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAdult Survivors of Child AbuseCorticotropin-Releasing HormoneDepressionDexamethasoneFemaleGenotypeHumansHydrocortisoneHypothalamo-Hypophyseal SystemLinear ModelsLinkage DisequilibriumMaleMiddle AgedPituitary-Adrenal SystemPolymorphism, GeneticReceptors, Corticotropin-Releasing HormoneStress, PsychologicalSurveys and QuestionnairesYoung AdultConceptsDEX/CRH testAdrenal (HPA) axis reactivityEarly life stressCortisol responseCRH testAxis reactivityDexamethasone/corticotropin-releasing hormone testCorticotropin-releasing hormone testChildhood maltreatmentCRHR1 polymorphismsHormone receptor geneHPA axis activationLife stressReceptor geneElevated cortisol responseDevelopment of moodChildhood Trauma QuestionnaireHormone testAxis activationHypothalamic-PituitaryNon-Hispanic adultsBlood samplesGG genotypeAdult depressionAnxiety disordersGenetics of alcohol dependence
Gelernter J, Kranzler HR. Genetics of alcohol dependence. Human Genetics 2009, 126: 91-99. PMID: 19533172, PMCID: PMC3773848, DOI: 10.1007/s00439-009-0701-2.Peer-Reviewed Original ResearchModification of the Association Between Serotonin Transporter Genotype and Risk of Posttraumatic Stress Disorder in Adults by County-Level Social Environment
Koenen KC, Aiello AE, Bakshis E, Amstadter AB, Ruggiero KJ, Acierno R, Kilpatrick DG, Gelernter J, Galea S. Modification of the Association Between Serotonin Transporter Genotype and Risk of Posttraumatic Stress Disorder in Adults by County-Level Social Environment. American Journal Of Epidemiology 2009, 169: 704-711. PMID: 19228812, PMCID: PMC2727213, DOI: 10.1093/aje/kwn397.Peer-Reviewed Original ResearchTwenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity
Hirunsatit R, George ED, Lipska BK, Elwafi HM, Sander L, Yrigollen CM, Gelernter J, Grigorenko EL, Lappalainen J, Mane S, Nairn AC, Kleinman JE, Simen AA. Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity. Pharmacogenetics And Genomics 2009, 19: 53-65. PMID: 19077666, PMCID: PMC2791799, DOI: 10.1097/fpc.0b013e328318b21a.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAnimalsBase SequenceBlack or African AmericanCase-Control StudiesCell LineDNA PrimersEnhancer Elements, GeneticFemaleGABA Plasma Membrane Transport ProteinsGene ExpressionHippocampusHumansMaleMiceMiddle AgedMinisatellite RepeatsMolecular Sequence DataMutagenesis, InsertionalPharmacogeneticsPolymorphism, GeneticPromoter Regions, GeneticRecombinant ProteinsRNA, MessengerSchizophreniaSequence Homology, Nucleic AcidTranscriptional ActivationYoung Adult
2008
Variant in RGS2 moderates posttraumatic stress symptoms following potentially traumatic event exposure
Amstadter AB, Koenen KC, Ruggiero KJ, Acierno R, Galea S, Kilpatrick DG, Gelernter J. Variant in RGS2 moderates posttraumatic stress symptoms following potentially traumatic event exposure. Journal Of Anxiety Disorders 2008, 23: 369-373. PMID: 19162436, PMCID: PMC2735848, DOI: 10.1016/j.janxdis.2008.12.005.Peer-Reviewed Original ResearchRole 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 activation
2007
The Serotonin Transporter Genotype and Social Support and Moderation of Posttraumatic Stress Disorder and Depression in Hurricane-Exposed Adults
Kilpatrick DG, Koenen KC, Ruggiero KJ, Acierno R, Galea S, Resnick HS, Roitzsch J, Boyle J, Gelernter J. The Serotonin Transporter Genotype and Social Support and Moderation of Posttraumatic Stress Disorder and Depression in Hurricane-Exposed Adults. American Journal Of Psychiatry 2007, 164: 1693-1699. PMID: 17974934, DOI: 10.1176/appi.ajp.2007.06122007.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultDepressive Disorder, MajorDiagnostic and Statistical Manual of Mental DisordersDisastersFemaleFloridaGenetic VariationGenotypeHumansLife Change EventsLogistic ModelsMaleMiddle AgedPolymorphism, GeneticPsychiatric Status Rating ScalesRisk FactorsSerotonin Plasma Membrane Transport ProteinsSocial SupportStress Disorders, Post-TraumaticConceptsHigh hurricane exposurePosttraumatic stress disorderLow social supportMajor depressionLow-expression variantPostdisaster posttraumatic stress disorderSocial supportStress disorderHurricane exposureHigh-risk individualsDSM-IV diagnosisLow-risk individualsAdults ages 18Household probability sampleSubset of participantsOutcome measuresAdults 6Serotonin transporter genotypeSerotonin transporter geneAge 18DepressionDisaster exposureTransporter genotypeRiskStructured interviews
2006
Dopamine β-Hydroxylase Gene (DβH) -1021C→T Influences Self-Reported Paranoia during Cocaine Self-Administration
Kalayasiri R, Sughondhabirom A, Gueorguieva R, Coric V, Lynch WJ, Lappalainen J, Gelernter J, Cubells JF, Malison RT. Dopamine β-Hydroxylase Gene (DβH) -1021C→T Influences Self-Reported Paranoia during Cocaine Self-Administration. Biological Psychiatry 2006, 61: 1310-1313. PMID: 17157269, DOI: 10.1016/j.biopsych.2006.08.012.Peer-Reviewed Original ResearchC957T polymorphism of the dopamine D2 receptor gene modulates the effect of nicotine on working memory performance and cortical processing efficiency
Jacobsen LK, Pugh KR, Mencl WE, Gelernter J. C957T polymorphism of the dopamine D2 receptor gene modulates the effect of nicotine on working memory performance and cortical processing efficiency. Psychopharmacology 2006, 188: 530-540. PMID: 16896957, DOI: 10.1007/s00213-006-0469-1.Peer-Reviewed Original ResearchMeSH KeywordsAdultBrainDouble-Blind MethodFemaleGenotypeHumansMaleMemoryNicotineNicotinic AgonistsPolymorphism, GeneticReceptors, Dopamine D2SmokingConceptsMemory performanceEffects of nicotineBrain regionsBrain functionFunctional magnetic resonanceCortical processing efficiencyRange of behavioralC957T polymorphismProcessing efficiencyPhonological rehearsalMemory taskMemory loadBrain responsesPerformance accuracyC957TMemoryBehavioral effectsNicotine administrationDopamine D2 receptor geneConclusionsThese findingsTobacco dependenceIndividual variationIndividual responsesTaskPlacebo patch