2024
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscovery
2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transportPrevalence and gender distribution of excoriation (skin-picking) disorder: A systematic review and meta-analysis
Farhat L, Reid M, Bloch M, Olfson E. Prevalence and gender distribution of excoriation (skin-picking) disorder: A systematic review and meta-analysis. Journal Of Psychiatric Research 2023, 161: 412-418. PMID: 37023597, PMCID: PMC11137851, DOI: 10.1016/j.jpsychires.2023.03.034.Peer-Reviewed Original ResearchConceptsExcoriation disorderPublic health impactEpidemiological studiesGeneral populationSystematic reviewHealth impactsDifferent prevalence estimatesPooled prevalenceOverall prevalenceInclusion criteriaMale ratioPubMed searchPrevalence estimatesGender distributionDisordersPrevalenceDatabase searchEMBASEReviewPopulationPubMedPsycINFOStudyWomenCharacteristics of trichotillomania and excoriation disorder across the lifespan
Lin A, Farhat L, Flores J, Levine J, Fernandez T, Bloch M, Olfson E. Characteristics of trichotillomania and excoriation disorder across the lifespan. Psychiatry Research 2023, 322: 115120. PMID: 36842397, PMCID: PMC10023474, DOI: 10.1016/j.psychres.2023.115120.Peer-Reviewed Original ResearchConceptsExcoriation disorderClinical characteristicsSkin-picking severityAttention-deficit/hyperactivity disorderCo-occurring conditionsBody-focused repetitive behaviorsObsessive-compulsive disorderSeverity scoreCurrent symptomsSignificant positive correlationTrichotillomaniaHyperactivity disorderDisordersSelf-reported anxietyAge 4High rateSubtypesSelf-report measuresSeverityCross-sectional survey responsesRepetitive behaviorsAdulthoodPositive correlation
2022
Prevalence and gender distribution of trichotillomania: A systematic review and meta-analysis
Thomson HA, Farhat LC, Olfson E, Levine JLS, Bloch MH. Prevalence and gender distribution of trichotillomania: A systematic review and meta-analysis. Journal Of Psychiatric Research 2022, 153: 73-81. PMID: 35802953, DOI: 10.1016/j.jpsychires.2022.06.058.Peer-Reviewed Original ResearchConceptsNoticeable hair lossHair-pulling behaviorOdds ratioHair lossPrevalence estimatesSystematic reviewGender distributionSignificant public health impactMental Disorders criteriaPublic health impactMale odds ratioFemale preponderanceEpidemiological studiesPrevalence dataUnderstudied conditionDisorder criteriaStatistical ManualTrichotillomaniaEpidemiological samplePrevalenceHealth impactsConsiderable heterogeneityDatabase searchAdditional researchFemalesWhole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants
Olfson E, Lebowitz ER, Hommel G, Pashankar N, Silverman WK, Fernandez TV. Whole‐exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants. Depression And Anxiety 2022, 39: 474-484. PMID: 35312124, PMCID: PMC9246845, DOI: 10.1002/da.23251.Peer-Reviewed Original ResearchConceptsWhole-exome DNA sequencingRisk genesDNA sequencingCanonical biological pathwaysMissense genetic variantsNovo variantsGenetic variant detectionParent-child triosGenomic approachesDe novo variantsLikely geneBiologic pathwaysDeleterious variantsBiological pathwaysDamaging variantsGenesGenetic variantsPathwayVariant detectionSequencingNetwork analysisGenetic factorsUnderlying biologyVariantsEnrichment
2020
Pharmacological and behavioral treatment for trichotillomania: An updated systematic review with meta‐analysis
Farhat LC, Olfson E, Nasir M, Levine JLS, Li F, Miguel EC, Bloch MH. Pharmacological and behavioral treatment for trichotillomania: An updated systematic review with meta‐analysis. Depression And Anxiety 2020, 37: 715-727. PMID: 32390221, DOI: 10.1002/da.23028.Peer-Reviewed Original ResearchConceptsClinical trialsSingle randomized clinical trialTTM symptomsFirst-line medicationRandomized clinical trialsStrong evidence baseLarge treatment effectsHair pulling disorderEffective medicationsAvailable agentsPharmacological agentsAdditional trialsDrug AdministrationPsychiatric conditionsSystematic reviewN-acetylcysteineBehavioral treatmentBehavioral therapyEvidence baseTrichotillomaniaTrialsRelative efficacyTreatment effectsMedicationsSymptoms
2019
Measuring Treatment Response in Pediatric Trichotillomania: A Meta-Analysis of Clinical Trials
Farhat LC, Olfson E, Levine JLS, Li F, Franklin ME, Lee HJ, Lewin AB, McGuire JF, Rahman O, Storch EA, Tolin DF, Zickgraf HF, Bloch MH. Measuring Treatment Response in Pediatric Trichotillomania: A Meta-Analysis of Clinical Trials. Journal Of Child And Adolescent Psychopharmacology 2019, 30: 306-315. PMID: 31794677, PMCID: PMC7476376, DOI: 10.1089/cap.2019.0103.Peer-Reviewed Original ResearchConceptsClinical trialsTreatment responseOptimal cut pointCut pointsMassachusetts General Hospital Hair Pulling ScalePediatric trichotillomaniaClinical Global Impressions-Improvement scoreMeta-DiSc softwareClinical responsePediatric populationAge-related differencesSeverity ScaleImprovement scoresMeta-AnalysisYouden indexStandardized definitionsTTM severityOlder childrenTrichotillomaniaTrialsParent versionNational InstituteYoung childrenMGH-HPSDiscriminative abilityDe Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.Peer-Reviewed Original Research
2018
Identifying standardized definitions of treatment response in trichotillomania: A meta-analysis
Farhat LC, Olfson E, Li F, Telang S, Bloch MH. Identifying standardized definitions of treatment response in trichotillomania: A meta-analysis. Progress In Neuro-Psychopharmacology And Biological Psychiatry 2018, 89: 446-455. PMID: 30336171, DOI: 10.1016/j.pnpbp.2018.10.009.Peer-Reviewed Original ResearchConceptsTreatment responseClinical trialsMassachusetts General Hospital Hair Pulling ScaleClinical Global Impression-Improvement scale scoreMGH-HPSImprovement Scale scoresMeta-DiSc softwarePediatric subjectsSeverity ScaleScale scoreAdult subjectsSymptom severityYouden indexStandardized definitionsTrialsNational InstituteCentral databaseTrichotillomaniaPercent reductionUniversal definitionAdequate dataSubjectsResponsePubMed
2017
Genes Orchestrating Brain Function
Olfson E, Ross DA. Genes Orchestrating Brain Function. Biological Psychiatry 2017, 82: e17-e19. PMID: 28693738, PMCID: PMC5712901, DOI: 10.1016/j.biopsych.2017.06.003.Peer-Reviewed Original Research
2016
CYP2A6 metabolism in the development of smoking behaviors in young adults
Olfson E, Bloom J, Bertelsen S, Budde JP, Breslau N, Brooks A, Culverhouse R, Chan G, Chen L, Chorlian D, Dick DM, Edenberg HJ, Hartz S, Hatsukami D, Hesselbrock VM, Johnson EO, Kramer JR, Kuperman S, Meyers JL, Nurnberger J, Porjesz B, Saccone NL, Schuckit MA, Stitzel J, Tischfield JA, Rice JP, Goate A, Bierut LJ. CYP2A6 metabolism in the development of smoking behaviors in young adults. Addiction Biology 2016, 23: 437-447. PMID: 28032407, PMCID: PMC5491369, DOI: 10.1111/adb.12477.Peer-Reviewed Original ResearchConceptsNicotine dependenceSlow metabolizersDaily smokersYoung adultsSmoking behaviorCYP2A6 variationNicotine metabolismRole of CYP2A6Adult daily smokersDevelopment of dependenceCollaborative Genetics StudyGenetics of AlcoholismSmoking milestonesCytochrome P450 2A6Young adult daily smokersNormal metabolizersCollaborative studyDaily smokingFirst cigaretteSecondary analysisCYP2A6 variantsMetabolizersYoung adulthoodP450 2A6Conflicting resultsThe significant impact of education, poverty, and race on Internet-based research participant engagement
Hartz SM, Quan T, Ibiebele A, Fisher SL, Olfson E, Salyer P, Bierut LJ. The significant impact of education, poverty, and race on Internet-based research participant engagement. Genetics In Medicine 2016, 19: 240-243. PMID: 27467456, PMCID: PMC5274598, DOI: 10.1038/gim.2016.91.Peer-Reviewed Original ResearchImplications of Personal Genomic Testing for Health Behaviors: The Case of Smoking
Olfson E, Hartz S, Carere DA, Green RC, Roberts JS, Bierut LJ, Group F. Implications of Personal Genomic Testing for Health Behaviors: The Case of Smoking. Nicotine & Tobacco Research 2016, 18: 2273-2277. PMID: 27613923, PMCID: PMC5103936, DOI: 10.1093/ntr/ntw168.Peer-Reviewed Original ResearchConceptsCurrent smokersSmoking-related diseasesPersonal genomic testingGenetic risk resultsFormer smokersGenomic testingLung cancerConsumer genomic testingGenetic riskSmoking behaviorHealth behaviorsFalse reassuranceUnhealthy behaviorsBaseline current smokersSame smoking statusConsumer personal genomic testingSmoking-related illnessesHigher quit ratesGenomic test resultsCase of smokingBehavior 6 monthsSmoking statusHeart diseaseQuit ratesGenomic testing results
2015
When Does Choice of Accuracy Measure Alter Imputation Accuracy Assessments?
Ramnarine S, Zhang J, Chen LS, Culverhouse R, Duan W, Hancock DB, Hartz SM, Johnson EO, Olfson E, Schwantes-An TH, Saccone NL. When Does Choice of Accuracy Measure Alter Imputation Accuracy Assessments? PLOS ONE 2015, 10: e0137601. PMID: 26458263, PMCID: PMC4601794, DOI: 10.1371/journal.pone.0137601.Peer-Reviewed Original ResearchIdentification of Medically Actionable Secondary Findings in the 1000 Genomes
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLOS ONE 2015, 10: e0135193. PMID: 26332594, PMCID: PMC4558085, DOI: 10.1371/journal.pone.0135193.Peer-Reviewed Original ResearchConceptsSecondary findingsAdditional truncating variantsRelevant secondary findingsCancer predisposition syndromeClinical laboratory specialistsActionable secondary findingsCardiac conditionsAmerican CollegeFamilial hypercholesterolemiaPredisposition syndromeAfrican ancestry groupPathogenic variantsTruncating variantsClinical standardsLiterature reviewActionable conditionsImportant secondary findingActionable findingsDiseaseACMG genesLaboratory specialistsUnderstudied populationAncestry groupsCandidate variantsExpert physiciansRare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans
Olfson E, Saccone NL, Johnson EO, Chen LS, Culverhouse R, Doheny K, Foltz SM, Fox L, Gogarten SM, Hartz S, Hetrick K, Laurie CC, Marosy B, Amin N, Arnett D, Barr RG, Bartz TM, Bertelsen S, Borecki IB, Brown MR, Chasman DI, van Duijn CM, Feitosa MF, Fox ER, Franceschini N, Franco OH, Grove ML, Guo X, Hofman A, Kardia SL, Morrison AC, Musani SK, Psaty BM, Rao DC, Reiner AP, Rice K, Ridker PM, Rose LM, Schick UM, Schwander K, Uitterlinden AG, Vojinovic D, Wang JC, Ware EB, Wilson G, Yao J, Zhao W, Breslau N, Hatsukami D, Stitzel JA, Rice J, Goate A, Bierut LJ. Rare, low frequency and common coding variants in CHRNA5 and their contribution to nicotine dependence in European and African Americans. Molecular Psychiatry 2015, 21: 601-607. PMID: 26239294, PMCID: PMC4740321, DOI: 10.1038/mp.2015.105.Peer-Reviewed Original Research
2014
An ADH1B Variant and Peer Drinking in Progression to Adolescent Drinking Milestones: Evidence of a Gene‐by‐Environment Interaction
Olfson E, Edenberg HJ, Nurnberger J, Agrawal A, Bucholz KK, Almasy LA, Chorlian D, Dick DM, Hesselbrock VM, Kramer JR, Kuperman S, Porjesz B, Schuckit MA, Tischfield JA, Wang J, Wetherill L, Foroud TM, Rice J, Goate A, Bierut LJ. An ADH1B Variant and Peer Drinking in Progression to Adolescent Drinking Milestones: Evidence of a Gene‐by‐Environment Interaction. Alcohol Clinical And Experimental Research 2014, 38: 2541-2549. PMID: 25257461, PMCID: PMC4256939, DOI: 10.1111/acer.12524.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlcohol DehydrogenaseAlcohol DrinkingAlcoholismAlcohol-Related DisordersAllelesChildDisease ProgressionDrinking BehaviorFemaleGene-Environment InteractionGenetic VariationHumansLongitudinal StudiesMalePeer GroupProportional Hazards ModelsPsychological DistanceRisk FactorsSocial EnvironmentUnited StatesYoung AdultConceptsProtective effectDSM-5 symptomsFirst intoxicationImportant public health concernProportional hazards regressionAlcohol use disorder symptomsADH1B variantsDrinking milestonesAlcohol use disorderDrinking behaviorPublic health concernDiverse adult populationsAlcohol dehydrogenase 1BFinal modelPrimary outcomeHazards regressionAfrican American individualsRisk factorsUse disordersAdult populationAge 18SymptomsHealth concernIntoxicationDisorder symptomsReturn of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change
Hartz SM, Olfson E, Culverhouse R, Cavazos-Rehg P, Chen LS, DuBois J, Fisher S, Kaphingst K, Kaufman D, Plunk A, Ramnarine S, Solomon S, Saccone NL, Bierut LJ. Return of individual genetic results in a high-risk sample: enthusiasm and positive behavioral change. Genetics In Medicine 2014, 17: 374-379. PMID: 25166427, PMCID: PMC4344933, DOI: 10.1038/gim.2014.110.Peer-Reviewed Original ResearchConceptsHigh riskPathway GenomicsBaseline measuresAdequate health literacyMultiple risk factorsSymptoms of depressionPercent of participantsHigh baseline measuresAdverse psychological reactionsIncreased riskRisk factorsHigh-risk sampleCessation attemptsGenetic resultsHealth literacyNicotine dependenceUnderserved populationsPositive behavioral changesGenetic riskHealth insuranceDepressionAfrican AmericansLower ratesRiskBehavioral changesSummaries of oral sessions at the XXI World Congress of Psychiatric Genetics, Boston, Massachusetts, 17–21 October 2013
Akpudo H, Aleksic B, Alkelai A, Burton C, Roa T, Chen DT, Cheng MC, Cocchi E, Davis LK, Giori IG, Hubbard LM, Merikangas A, Moily NS, Okewole A, Olfson E, Pappa I, Reitt M, Singh AB, Steinberg J, Strohmaier J, Ting TT, van Hulzen KJ, O’Shea A, DeLisi LE. Summaries of oral sessions at the XXI World Congress of Psychiatric Genetics, Boston, Massachusetts, 17–21 October 2013. Psychiatric Genetics 2014, 24: 125-150. PMID: 24912047, DOI: 10.1097/ypg.0000000000000043.Peer-Reviewed Original Research