2022
Exploring the genetic overlap between twelve psychiatric disorders
Romero C, Werme J, Jansen P, Gelernter J, Stein M, Levey D, Polimanti R, de Leeuw C, Posthuma D, Nagel M, van der Sluis S. Exploring the genetic overlap between twelve psychiatric disorders. Nature Genetics 2022, 54: 1795-1802. PMID: 36471075, DOI: 10.1038/s41588-022-01245-2.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsPleiotropic single nucleotide polymorphismsPositive genetic correlationStringent P-value thresholdGenetic architectureGenomic regionsGenetic covarianceBiological processesBiological pathwaysMolecular characterizationObserved phenotypicGenetic correlationsGenetic overlapBiological characterizationBiological mechanismsP-value thresholdOnly annotationGenesPleiotropicPairwise comparisonsPhenotypicPathwayAnnotationPolymorphismCharacterizationSex-Specific Genetic and Transcriptomic Liability to Neuroticism
Wendt FR, Pathak GA, Singh K, Stein MB, Koenen KC, Krystal JH, Gelernter J, Davis LK, Polimanti R. Sex-Specific Genetic and Transcriptomic Liability to Neuroticism. Biological Psychiatry 2022, 93: 243-252. PMID: 36244801, PMCID: PMC10508260, DOI: 10.1016/j.biopsych.2022.07.019.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptomic profilesAssociation studiesSingle nucleotide polymorphism heritabilityGene expression variationGenome-wide significanceSex-specific geneticChromosomal variationTranscriptomic changesRisk lociExpression variationBiological processesMolecular pathwaysLociPolygenic associationSex-specific effectsGenetic correlatesPolygenic scoresUK BiobankGenetic riskNCOA6GeneticsHeritabilityPathwayFemalesGenome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways
Watanabe K, Jansen PR, Savage JE, Nandakumar P, Wang X, Hinds D, Gelernter J, Levey D, Polimanti R, Stein M, Van Someren E, Smit A, Posthuma D. Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways. Nature Genetics 2022, 54: 1125-1132. PMID: 35835914, DOI: 10.1038/s41588-022-01124-w.Peer-Reviewed Original ResearchConceptsRisk lociGenome-wide association studiesSpecific gene setsPrevious genome-wide association studyGene prioritization strategyExternal biological resourcesExtreme polygenicityExpression specificityAssociated lociSignaling functionsGene setsAssociation studiesNeuronal differentiationFunctional interactionGenesLociBiological resourcesPolygenicityNovel strategyPrioritization strategiesSpecific hypothesesDifferentiationPathwayStatistical powerLarge number
2019
Genome-Wide Meta-Analyses of FTND and TTFC Phenotypes
Chen J, Loukola A, Gillespie NA, Peterson R, Jia P, Riley B, Maes H, Dick DM, Kendler KS, Damaj MI, Miles MF, Zhao Z, Li MD, Vink JM, Minica CC, Willemsen G, Boomsma DI, Qaiser B, Madden PAF, Korhonen T, Jousilahti P, Hällfors J, Gelernter J, Kranzler HR, Sherva R, Farrer L, Maher B, Vanyukov M, Taylor M, Ware JJ, Munafò MR, Lutz SM, Hokanson JE, Gu F, Landi MT, Caporaso NE, Hancock DB, Gaddis NC, Baker TB, Bierut LJ, Johnson EO, Chenoweth M, Lerman C, Tyndale R, Kaprio J, Chen X. Genome-Wide Meta-Analyses of FTND and TTFC Phenotypes. Nicotine & Tobacco Research 2019, 22: 900-909. PMID: 31294817, PMCID: PMC7249921, DOI: 10.1093/ntr/ntz099.Peer-Reviewed Original ResearchConceptsGenome-Wide Meta-AnalysisGene-based analysisChemokine signaling pathwaysGenetic architectureActin cytoskeletonNew lociReceptor recyclingMAPK signalingPathway interactionsBiological pathwaysSignaling pathwaysAxon guidanceNovel pathwayPhenotypeNovel candidatesEuropean ancestryPathwayReplication sampleNetwork analysisReplicationIno80CCytoskeletonCOPB2EndocytosisSORBS2
2017
Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
Do C, Shearer A, Suzuki M, Terry MB, Gelernter J, Greally JM, Tycko B. Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era. Genome Biology 2017, 18: 120. PMID: 28629478, PMCID: PMC5477265, DOI: 10.1186/s13059-017-1250-y.Peer-Reviewed Original ResearchConceptsMethylation quantitative trait lociCCCTC-binding factorEpigenome-wide association studiesGenetic-epigenetic interactionsAllele-specific DNA methylationSequence variantsPost-GWAS eraQuantitative trait lociRegulatory sequence variantsGWAS signalsTrait lociDNA methylationTranscription factorsTranscriptional pathwaysAssociation studiesNon-genetic effectsStudy eraMajor focusMethylationLociVariantsCommon diseaseSitesNeuropsychiatric disordersPathway
2016
Genetic Relationship between Schizophrenia and Nicotine Dependence
Chen J, Bacanu SA, Yu H, Zhao Z, Jia P, Kendler KS, Kranzler HR, Gelernter J, Farrer L, Minica C, Pool R, Milaneschi Y, Boomsma DI, Penninx BW, Tyndale RF, Ware JJ, Vink JM, Kaprio J, Munafò M, Chen X. Genetic Relationship between Schizophrenia and Nicotine Dependence. Scientific Reports 2016, 6: 25671. PMID: 27164557, PMCID: PMC4862382, DOI: 10.1038/srep25671.Peer-Reviewed Original ResearchConceptsNeuroactive ligand-receptor interaction pathwayGenetic relationshipsEnergy production genesProtein modification genesLong non-coding RNAsNon-coding RNAsMultiple long non-coding RNAsProduction genesModification genesProtein geneInteraction pathwayGenesCalcium signalingP-value thresholdCritical roleRNANeuronal plasticityDifferent hypothesesFurther analysisLong-term potentiationSummary statisticsSignalingTraitsPathwayPlasticity
2014
The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders
Jensen KP, Kranzler HR, Stein MB, Gelernter J. The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2014, 165: 175-183. PMID: 24436253, PMCID: PMC4174417, DOI: 10.1002/ajmg.b.32219.Peer-Reviewed Original ResearchConceptsGene-trait relationshipsGWAS-identified variantsRegulation of mRNAGWAS signalsComplex traitsTrait associationsTarget genesStudy signalsSNP associationsRisk genesFunctional variantsSNPsGenesAnxiety-related traitsGene SNPsTraitsMRNAMAP2K5MicroRNAsMajor psychiatric disordersVariantsSite informationMitogenRegulationPathway
2013
Genome-Wide Association Study of Opioid Dependence: Multiple Associations Mapped to Calcium and Potassium Pathways
Gelernter J, Kranzler HR, Sherva R, Koesterer R, Almasy L, Zhao H, Farrer LA. Genome-Wide Association Study of Opioid Dependence: Multiple Associations Mapped to Calcium and Potassium Pathways. Biological Psychiatry 2013, 76: 66-74. PMID: 24143882, PMCID: PMC3992201, DOI: 10.1016/j.biopsych.2013.08.034.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBlack or African AmericanCalcium ChannelsCalcium SignalingDatabases, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLong-Term PotentiationOpioid-Related DisordersPolymorphism, Single NucleotidePotassiumPotassium Channels, Voltage-GatedSignal TransductionWhite PeopleConceptsGenome-wide association studiesSingle nucleotide polymorphismsAssociation studiesSignificant single nucleotide polymorphismsGenomes reference panelGWAS dataMultiple lociPathway analysisCalcium signalingRisk variantsGenesNucleotide polymorphismsPotassium pathwaysSimilar pathwaysReference panelAdditional genotypesPathwayMost significant resultsMultiple associationsLong-term potentiationLociGeneticsSignalingRisk pathwaysMicroarray