Featured Publications
Sex differences in the pleiotropy of hearing difficulty with imaging-derived phenotypes: a brain-wide investigation
He J, Cabrera-Mendoza B, De Angelis F, Pathak G, Koller D, Curhan S, Curhan G, Mecca A, van Dyck C, Polimanti R. Sex differences in the pleiotropy of hearing difficulty with imaging-derived phenotypes: a brain-wide investigation. Brain 2024, 147: 3395-3408. PMID: 38454550, PMCID: PMC11449129, DOI: 10.1093/brain/awae077.Peer-Reviewed Original ResearchImaging-derived phenotypesHearing difficultiesBrain imaging-derived phenotypesSex-combined analysisLatent causal variable analysesMendelian randomization approachGeneralized linear regression analysisLocal genetic correlation analysisMultivariate generalized linear regression analysisGenome-wide association studiesLatent causal variableGenetic correlation analysisGenetic correlationsLocal genetic correlationMendelian randomizationPeripheral auditory systemOlder adultsGWAS dataLinear regression analysisHealth burdenGenomic regionsAssociation studiesPleiotropic regionsSex differencesTranscriptome regulation
2024
Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study
Friligkou E, Løkhammer S, Cabrera-Mendoza B, Shen J, He J, Deiana G, Zanoaga M, Asgel Z, Pilcher A, Di Lascio L, Makharashvili A, Koller D, Tylee D, Pathak G, Polimanti R. Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study. Nature Genetics 2024, 56: 2036-2045. PMID: 39294497, DOI: 10.1038/s41588-024-01908-2.Peer-Reviewed Original ResearchGenome-wide association studiesAnxiety disordersAssociation studiesMulti-ancestry genome-wide association studyPathogenesis of anxiety disordersHeritability of anxietyLocal genetic correlationProteome-wide analysisIndividuals of European descentAssociated with anxietyMulti-omics informationWidespread pleiotropyTranscriptome-widePolygenic risk scoresBipolar disorderAncestry-specificGene discoveryContinental groupsLimbic systemEast Asian groupsBiological insightsAnxietyEntorhinal cortexPhysical health domainBrain-specificBlood epigenome-wide association studies of suicide attempt in adults with bipolar disorder
Mirza S, Lima C, Del Favero-Campbell A, Rubinstein A, Topolski N, Cabrera-Mendoza B, Kovács E, Blumberg H, Richards J, Williams A, Wemmie J, Magnotta V, Fiedorowicz J, Gaine M, Walss-Bass C, Quevedo J, Soares J, Fries G. Blood epigenome-wide association studies of suicide attempt in adults with bipolar disorder. Translational Psychiatry 2024, 14: 70. PMID: 38296944, PMCID: PMC10831084, DOI: 10.1038/s41398-024-02760-y.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesDifferentially methylated regionsDifferentially methylated positionsAssociation studiesCo-methylation network analysisBipolar disorderDNA methylation patternsSuicide attemptsReplication cohortHistory of SAGene ontology analysisSignificant CpG sitesMethylation patternsDNA methylationCpG sitesOntology analysisImmune-related genesEnrichment analysisNon-psychiatric controlsCalcium signalingGenesDNAClinical interviewSA historyNetwork analysis
2022
Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations
Koller D, Wendt F, Pathak G, De Lillo A, De Angelis F, Cabrera-Mendoza B, Tucci S, Polimanti R. Denisovan and Neanderthal archaic introgression differentially impacted the genetics of complex traits in modern populations. BMC Biology 2022, 20: 249. PMID: 36344982, PMCID: PMC9641937, DOI: 10.1186/s12915-022-01449-2.Peer-Reviewed Original ResearchConceptsArchaic introgressionComplex traitsDenisovan introgressionNeanderthal allelesNeanderthal introgressionSignatures of admixtureAncestry groupsModern populationsPhenome-wide association studyModern human populationsMajor histocompatibility complex regionIntrogressionEvolutionary pressureGenetic poolDisease heritabilityGenomic signaturesEAS populationsExtinct NeanderthalsAssociation studiesMetabolic traitsDenisovansUK BiobankRed hair colorEuropean descentHuman traitsUsing phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder
Wendt FR, Pathak GA, Deak JD, De Angelis F, Koller D, Cabrera-Mendoza B, Lebovitch DS, Levey DF, Stein MB, Kranzler HR, Koenen KC, Gelernter J, Huckins LM, Polimanti R. Using phenotype risk scores to enhance gene discovery for generalized anxiety disorder and posttraumatic stress disorder. Molecular Psychiatry 2022, 27: 2206-2215. PMID: 35181757, PMCID: PMC9133008, DOI: 10.1038/s41380-022-01469-y.Peer-Reviewed Original Research