2022
Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder
Oslin DW, Lynch KG, Shih MC, Ingram EP, Wray LO, Chapman SR, Kranzler HR, Gelernter J, Pyne JM, Stone A, DuVall SL, Lehmann LS, Thase ME, Aslam M, Batki S, Bjork J, Blow F, Brenner L, Chen P, Desai S, Dieperink E, Fears S, Fuller M, Goodman C, Graham D, Haas G, Hamner M, Helstrom A, Hurley R, Icardi M, Jurjus G, Kilbourne A, Kreyenbuhl J, Lache D, Lieske S, Lynch J, Meyer L, Montalvo C, Muralidhar S, Ostacher M, Paschall G, Pfeiffer P, Prieto S, Przygodzki R, Ranganathan M, Rodriguez-Suarez M, Roggenkamp H, Schichman S, Schneeweis J, Simonetti J, Steinhauer S, Suppes T, Umbert M, Vassy J, Voora D, Wiechers I, Wood A. Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder. JAMA 2022, 328: 151-161. PMID: 35819423, PMCID: PMC9277497, DOI: 10.1001/jama.2022.9805.Peer-Reviewed Original ResearchConceptsMajor depressive disorderPatient Health Questionnaire-9Usual care groupUsual carePharmacogenomic testingDrug-gene interactionsRemission rateMedication selectionCare groupDepressive disorderVeterans Affairs Medical CenterActive substance use disorderCo-primary outcomesPrescription of medicationsBetter clinical outcomesProportion of prescriptionsRemission of symptomsSubstance use disordersEligible patientsWeek 24Effective antidepressantSingle antidepressantClinical outcomesInitial treatmentQuestionnaire-9
2021
Prevalence of predicted gene-drug interactions for antidepressants in the treatment of major depressive disorder in the Precision Medicine in Mental Health Care Study
Ramsey CM, Lynch KG, Thase ME, Gelernter J, Kranzler HR, Pyne JM, Shih MC, Stone A, Committee C, Oslin DW. Prevalence of predicted gene-drug interactions for antidepressants in the treatment of major depressive disorder in the Precision Medicine in Mental Health Care Study. Journal Of Affective Disorders 2021, 282: 1272-1277. PMID: 33601706, DOI: 10.1016/j.jad.2021.01.034.Peer-Reviewed Original ResearchMeSH KeywordsAntidepressive AgentsDepressive Disorder, MajorDrug InteractionsHumansMental HealthPharmacogeneticsPrecision MedicinePrevalenceConceptsMajor depressive disorderMental Health Care studyGene-drug interactionsDepressive disorderPGx testingAD treatmentCare studiesHealth care studiesPrecision medicineContext of pharmacotherapyPrevalence of antidepressantsUtility of PGxPrescribing practicesUS veteransPharmacogenetic testingAntidepressantsPatientsPrevious treatmentPrevalenceTreatmentDisordersPGxMedicineTest panelParticipants
2020
Study design and implementation of the PRecision Medicine In MEntal health Care (PRIME Care) Trial
Oslin DW, Chapman S, Duvall SL, Gelernter J, Ingram E, Kranzler HR, Lehmann LS, Lynch JA, Lynch KG, Pyne JM, Shih MC, Stone A, Thase ME, Wray LO. Study design and implementation of the PRecision Medicine In MEntal health Care (PRIME Care) Trial. Contemporary Clinical Trials 2020, 101: 106247. PMID: 33316457, DOI: 10.1016/j.cct.2020.106247.Peer-Reviewed Original ResearchMeSH KeywordsAntidepressive AgentsHumansMental HealthPharmacogeneticsPharmacogenomic TestingPrecision MedicineConceptsMajor depressive disorderPGx test resultsRandomized clinical trialsClinical trialsPGx testingHealth care cost implicationsUtility of PGxRoutine clinical carePragmatic randomized clinical trialsEpisode of careHealth care trialsPrecision medicineHealth care providersPrecision medicine approachPatient care costsImplementation science methodsCare trialsMedication selectionPsychotropic medicationsProvider educationDepressive disorderPatient outcomesPharmacogenetic testingCare providersClinical care
2014
Genetics of Complex Traits in Psychiatry
Gelernter J. Genetics of Complex Traits in Psychiatry. Biological Psychiatry 2014, 77: 36-42. PMID: 25444161, PMCID: PMC4282183, DOI: 10.1016/j.biopsych.2014.08.005.Peer-Reviewed Original ResearchConceptsComplex traitsNext-generation high-throughput sequencingGenome-wide association studiesHigh-throughput sequencingSingle nucleotide polymorphismsEpigenetic effectsRisk allelesAssociation studiesExpression dataMultiple risk allelesPsychiatric geneticsPsychiatric traitsNumber variantsNucleotide polymorphismsTraitsGeneticsNew mutationsTrait riskAllelesEpistasisMinor effectMethylationKind of variationVariantsSequencing
2009
Twenty-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
2007
Population-specific effects of the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1) on HPA-axis activation
Hernandez-Avila CA, Covault J, Wand G, Zhang H, Gelernter J, Kranzler HR. Population-specific effects of the Asn40Asp polymorphism at the μ-opioid receptor gene (OPRM1) on HPA-axis activation. Pharmacogenetics And Genomics 2007, 17: 1031-1038. PMID: 18004207, DOI: 10.1097/fpc.0b013e3282f0b99c.Peer-Reviewed Original ResearchMeSH KeywordsAdrenocorticotropic HormoneAdultAllelesAmino Acid SubstitutionAsian PeopleDouble-Blind MethodFemaleGenetics, PopulationGenotypeHumansHydrocortisoneHypothalamo-Hypophyseal SystemMaleNaloxonePharmacogeneticsPituitary-Adrenal SystemPolymorphism, Single NucleotideReceptors, Opioid, muWhite PeopleConceptsHPA axis activationCortisol responseAsn40 homozygotesAsn40Asp polymorphismAsp40 alleleSingle nucleotide polymorphism A118GHPA axis responsePlacebo-controlled administrationΜ-opioid receptor geneGreater cortisol responseIntravenous naloxoneOpioid blockadeAxis activationAdrenocorticotropic hormoneA118GHealthy individualsOPRM1 SNPsNaloxoneCortisol concentrationsHormonal responsesEuropean AmericansObserved associationsHealthy participantsWhole bloodReceptor geneSequence 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