Diana Núñez
Associate Research ScientistAbout
Research
Publications
2025
Integrated Gene and Isoform-Level Transcriptomic Analysis of Adverse Childhood Experiences in the Human Prefrontal Cortex
Núñez-Ríos D, Nagamatsu S, Martínez-Magaña J, Montalvo-Ortiz J. Integrated Gene and Isoform-Level Transcriptomic Analysis of Adverse Childhood Experiences in the Human Prefrontal Cortex. The Yale Journal Of Biology And Medicine 2025, 98: 89-103. PMID: 40589944, PMCID: PMC12204229, DOI: 10.59249/vlmz6974.Peer-Reviewed Original ResearchConceptsPosttraumatic stress disorderAdverse childhood experiencesPsychiatric disordersChildhood experiencesIncreased risk of psychiatric disordersPostmortem brains of individualsRisk of psychiatric disordersAdverse childhood experience historyDorsal anterior cingulateAssociated with adverse childhood experiencesComplex psychiatric disorderHuman prefrontal cortexBrains of individualsPrefrontal cortexAnterior cingulateStress disorderPostmortem brainsSgPFCDisordersNeurogenesis regulationOFCIsoform usageDysregulationDLPFCDiverse outcomesPsychiatric genetics in the diverse landscape of Latin American populations
Bruxel E, Rovaris D, Belangero S, Chavarría-Soley G, Cuellar-Barboza A, Martínez-Magaña J, Nagamatsu S, Nievergelt C, Núñez-Ríos D, Ota V, Peterson R, Sloofman L, Adams A, Albino E, Alvarado A, Andrade-Brito D, Arguello-Pascualli P, Bandeira C, Bau C, Bulik C, Buxbaum J, Cappi C, Corral-Frias N, Corrales A, Corsi-Zuelli F, Crowley J, Cupertino R, da Silva B, De Almeida S, De la Hoz J, Forero D, Fries G, Gelernter J, González-Giraldo Y, Grevet E, Grice D, Hernández-Garayua A, Hettema J, Ibáñez A, Ionita-Laza I, Lattig M, Lima Y, Lin Y, López-León S, Loureiro C, Martínez-Cerdeño V, Martínez-Levy G, Melin K, Moreno-De-Luca D, Muniz Carvalho C, Olivares A, Oliveira V, Ormond R, Palmer A, Panzenhagen A, Passos-Bueno M, Peng Q, Pérez-Palma E, Prieto M, Roussos P, Sanchez-Roige S, Santamaría-García H, Shansis F, Sharp R, Storch E, Tavares M, Tietz G, Torres-Hernández B, Tovo-Rodrigues L, Trelles P, Trujillo-ChiVacuan E, Velásquez M, Vera-Urbina F, Voloudakis G, Wegman-Ostrosky T, Zhen-Duan J, Zhou H, Santoro M, Nicolini H, Atkinson E, Giusti-Rodríguez P, Montalvo-Ortiz J. Psychiatric genetics in the diverse landscape of Latin American populations. Nature Genetics 2025, 57: 1074-1088. PMID: 40175716, PMCID: PMC12133068, DOI: 10.1038/s41588-025-02127-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsGenome-wide association studiesPsychiatric genomicsPsychiatric genome-wide association studiesLarge-scale genome-wide association studiesGenetic risk lociNon-European populationsGenetic diversityRisk lociGenetic admixtureBurden of psychiatric disordersAssociation studiesPsychiatric disordersEuropean ancestryPsychiatric geneticsGenomeHealthcare disparitiesConsortium effortLatin American populationsPromote equityEnvironmental factorsDiversityAmerican populationDiverse landscapeLociAncestry
2024
Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts
Katrinli S, Wani A, Maihofer A, Ratanatharathorn A, Daskalakis N, Montalvo-Ortiz J, Núñez-Ríos D, Zannas A, Zhao X, Aiello A, Ashley-Koch A, Avetyan D, Baker D, Beckham J, Boks M, Brick L, Bromet E, Champagne F, Chen C, Dalvie S, Dennis M, Fatumo S, Fortier C, Galea S, Garrett M, Geuze E, Grant G, Hauser M, Hayes J, Hemmings S, Huber B, Jajoo A, Jansen S, Kessler R, Kimbrel N, King A, Kleinman J, Koen N, Koenen K, Kuan P, Liberzon I, Linnstaedt S, Lori A, Luft B, Luykx J, Marx C, McLean S, Mehta D, Milberg W, Miller M, Mufford M, Musanabaganwa C, Mutabaruka J, Mutesa L, Nemeroff C, Nugent N, Orcutt H, Qin X, Rauch S, Ressler K, Risbrough V, Rutembesa E, Rutten B, Seedat S, Stein D, Stein M, Toikumo S, Ursano R, Uwineza A, Verfaellie M, Vermetten E, Vinkers C, Ware E, Wildman D, Wolf E, Young R, Zhao Y, van den Heuvel L, Uddin M, Nievergelt C, Smith A, Logue M. Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts. Genome Medicine 2024, 16: 147. PMID: 39696436, PMCID: PMC11658418, DOI: 10.1186/s13073-024-01417-1.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesDNA methylationPsychiatric Genomics ConsortiumPost-traumatic stress disorderAssociation studiesMeta-analysis of epigenome-wide association studiesMethylation levelsGenome-wide expression dataEpigenetic gene regulationBrain regionsPGC-PTSDAnnotated genesBlood cell proportionsCpG lociGene regulationSusceptibility to post-traumatic stress disorderExpression dataAssociated with post-traumatic stress disorderIllumina HumanMethylation450Genomics ConsortiumOccurrence of post-traumatic stress disorderAssociated with biological differencesCpGMultiple brain regionsPostmortem brain samplesAncestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia
Cárdenas W, Conley A, Nagar S, Núñez-Ríos D, Jordan I, Lattig M. Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia. PLOS ONE 2024, 19: e0313777. PMID: 39556609, PMCID: PMC11573203, DOI: 10.1371/journal.pone.0313777.Peer-Reviewed Original ResearchConceptsAncestral originTYR haplotypeAdmixed populationsOCA2 geneOCA patientsOCA2 mutationsOculocutaneous albinismAdmixed American populationsDisease-Associated VariantsGlobal reference populationsAutosomal recessive oculocutaneous albinismNative American admixtureDisease-causing mutationsNative American originGene mutationsRecessive conditionColonization historyGenetic architectureGenetic admixtureMendelian diseasesCompound heterozygote patientsAffected family membersAssociation mappingSephardic Jewish originRecessive allelesNeuronal-specific methylome and hydroxymethylome analysis reveal significant loci associated with alcohol use disorder
Andrade-Brito D, Núñez-Ríos D, Martínez-Magaña J, Nagamatsu S, Rompala G, Zillich L, Witt S, Clark S, Lattig M, Montalvo-Ortiz J, Alvarez V, Benedek D, Che A, Cruz D, Davis D, Girgenti M, Hoffman E, Holtzheimer P, Huber B, Kaye A, Keane T, Krystal J, Labadorf A, Logue M, Marx B, Mash D, McKee A, Miller M, Montalvo-Ortiz J, Noller C, Schnurr P, Scott W, Stein T, Ursano R, Williamson D, Wolf E, Young K. Neuronal-specific methylome and hydroxymethylome analysis reveal significant loci associated with alcohol use disorder. Frontiers In Genetics 2024, 15: 1345410. PMID: 38633406, PMCID: PMC11021708, DOI: 10.3389/fgene.2024.1345410.Peer-Reviewed Original ResearchAssociated with alcohol use disorderAlcohol use disorderOrbitofrontal cortexEpigenome-wide association studiesUse disorderStudy of alcohol use disorderHuman orbitofrontal cortexAlcohol-related traitsHuman brainPostmortem brain samplesHuman postmortem brain samplesEnrichment analysisDifferential CpG sitesPostmortem brain tissueGenome-wide levelOxidative bisulfite sequencingAssessed 5Functional enrichment analysisBrain tissueFalse discovery rateBisulfite sequencingAssociation studiesDifferential methylationIdentified genesDNA methylation
2023
Profiling neuronal methylome and hydroxymethylome of opioid use disorder in the human orbitofrontal cortex
Rompala G, Nagamatsu S, Martínez-Magaña J, Nuñez-Ríos D, Wang J, Girgenti M, Krystal J, Gelernter J, Hurd Y, Montalvo-Ortiz J. Profiling neuronal methylome and hydroxymethylome of opioid use disorder in the human orbitofrontal cortex. Nature Communications 2023, 14: 4544. PMID: 37507366, PMCID: PMC10382503, DOI: 10.1038/s41467-023-40285-y.Peer-Reviewed Original ResearchConceptsOpioid use disorderMulti-omics findingsGene expression patternsCo-methylation analysisGene expression profilesMulti-omics profilingGene networksDNA methylationNeuronal methylomesDNA hydroxymethylationMethylomic analysisExpression patternsExpression profilesEpigenetic disturbancesUse disordersPsychiatric traitsOrbitofrontal cortexOpioid-related drugsPostmortem orbitofrontal cortexEnvironmental factorsDrug interaction analysisOUD treatmentHuman orbitofrontal cortexOpioid signalingInteraction analysisCross-Species Convergence of Brain Transcriptomic and Epigenomic Findings in Posttraumatic Stress Disorder: A Systematic Review
Núñez-Rios D, Martínez-Magaña J, Nagamatsu S, Krystal J, Martínez-González K, Giusti-Rodríguez P, Montalvo-Ortiz J. Cross-Species Convergence of Brain Transcriptomic and Epigenomic Findings in Posttraumatic Stress Disorder: A Systematic Review. Complex Psychiatry 2023, 9: 100-118. PMID: 37404872, PMCID: PMC10315001, DOI: 10.1159/000529536.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsG protein-coupled receptorsPosttraumatic stress disorderEpigenomic findingsEpigenomic studiesEpigenomic profilesTranscriptomic modificationsEpigenetic studiesBrain transcriptomicsBiological pathwaysComplex multifactorial disorderGenesBrain tissueGene-environment interplayStress disorderSpeciesHuman postmortem samplesChemical synaptic transmissionSystematic literature searchEnvironmental factorsCurrent knowledge gapsPotential roleOrexin pathwayPathwayBrain alterationsPeripheral tissuesCpH methylome analysis in human cortical neurons identifies novel gene pathways and drug targets for opioid use disorder
Nagamatsu S, Rompala G, Hurd Y, Núñez-Rios D, Montalvo-Ortiz J, Group T, Alvarez V, Benedek D, Che A, Cruz D, Davis D, Girgenti M, Hoffman E, Holtzheimer P, Huber B, Kaye A, Krystal J, Labadorf A, Keane T, Logue M, McKee A, Marx B, Mash D, Miller M, Noller C, JM-O, Scott W, Schnurr P, Stein T, Ursano R, Williamson D, Wolf E, Young K. CpH methylome analysis in human cortical neurons identifies novel gene pathways and drug targets for opioid use disorder. Frontiers In Psychiatry 2023, 13: 1078894. PMID: 36745154, PMCID: PMC9892724, DOI: 10.3389/fpsyt.2022.1078894.Peer-Reviewed Original ResearchOpioid use disorderOrbital frontal cortexDNA methylationKEGG enrichment analysisUse disordersMCPH lociTreatment of OUDGene OntologyEnrichment analysisOpioid-related drugsCpG sitesDrug targetsOxidative bisulfite sequencingImportant biological pathwaysDrug interaction analysisDrug-gene interaction databaseNervous system developmentSmoking statusBrain BankCortical neuronsFrontal cortexNeuronal nucleiHuman studiesGene regulationMethylome analysis
2022
Central and Peripheral Immune Dysregulation in Posttraumatic Stress Disorder: Convergent Multi-Omics Evidence
Núñez-Rios DL, Martínez-Magaña JJ, Nagamatsu ST, Andrade-Brito DE, Forero DA, Orozco-Castaño CA, Montalvo-Ortiz JL. Central and Peripheral Immune Dysregulation in Posttraumatic Stress Disorder: Convergent Multi-Omics Evidence. Biomedicines 2022, 10: 1107. PMID: 35625844, PMCID: PMC9138536, DOI: 10.3390/biomedicines10051107.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsPosttraumatic stress disorderPeripheral immune systemImmune systemInflammatory systemTrauma exposureStress disorderPeripheral immune dysregulationToll-like receptorsLifetime trauma exposurePotential novel drug targetsEtiology of PTSDImmune dysregulationInflammatory dysregulationHPA axisNovel drug targetsImmunological responseInflammatory signalingGeneral populationAnimal modelsIntegrative multi-omics approachPTSD treatmentMultifactorial disorderBrain tissueHallmark featureDysregulation
2020
The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders
Nuñez-Rios D, Chaskel R, Lopez A, Galeano L, Lattig M. The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders. PLOS ONE 2020, 15: e0235512. PMID: 32614901, PMCID: PMC7332001, DOI: 10.1371/journal.pone.0235512.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderExtracellular serotonin levelsIdiopathic autism spectrum disorderPsychiatric disordersSerotonin levelsSymptom severityLatin American populationsGenetic studiesAllele frequenciesAmerican populationMeta-analysisFunctional roleGenotypic variabilityDisordersPolymorphismColombian individualsAutismComplex disorderLatin American individualsASD riskCaucasian populationAmerican individualsNon-associativeShort/long
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