2024
Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression
Tian R, Ge T, Kweon H, Rocha D, Lam M, Liu J, Singh K, Levey D, Gelernter J, Stein M, Tsai E, Huang H, Chabris C, Lencz T, Runz H, Chen C. Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression. Nature Communications 2024, 15: 1755. PMID: 38409228, PMCID: PMC10897433, DOI: 10.1038/s41467-024-45774-2.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesRare coding variantsWhole-exome sequencingGenetic architectureGenetic relationshipsLoss-of-function intolerant genesContribution of rare coding variantsRare damagingAssociated with risk of depressionElectronic health recordsUK Biobank participantsPolygenic risk scoresRisk of depressionAssociated with riskIntolerant genesRisk lociAssociation studiesCoding variantsBiobank participantsHealth recordsUK BiobankDepression definitionsDepression riskBurden analysisRare variants
2016
The role of genes involved in stress, neural plasticity, and brain circuitry in depressive phenotypes: Convergent findings in a mouse model of neglect
Montalvo-Ortiz JL, Bordner KA, Carlyle BC, Gelernter J, Simen AA, Kaufman J. The role of genes involved in stress, neural plasticity, and brain circuitry in depressive phenotypes: Convergent findings in a mouse model of neglect. Behavioural Brain Research 2016, 315: 71-74. PMID: 27506655, PMCID: PMC5396458, DOI: 10.1016/j.bbr.2016.08.010.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDepressionDisease Models, AnimalGene Expression RegulationInhibitor of Differentiation ProteinsMaleMaternal DeprivationMaze LearningMiceMice, Inbred C57BLMice, Inbred DBAMicroarray AnalysisNerve Tissue ProteinsNeuronal PlasticityPrefrontal CortexReceptors, N-Methyl-D-AspartateRNA, MessengerStress, PsychologicalSwimmingConceptsTubulin Polymerization Promoting ProteinRole of genesGene expression dataEpigenetic changesGene expressionPhenotype dataExpression dataPrefrontal cortex tissueGenesSecondary analysisMedial prefrontal cortex (mPFC) tissueGlutamate NMDA receptorsAdult male miceId-3Early life stressPhenotypeSwimming testMale miceNMDA receptorsDepression riskMaternal separationMouse modelDepressive phenotypeBrain circuitryBehavioral differences
2011
A CRHR1 haplotype moderates the effect of adverse childhood experiences on lifetime risk of major depressive episode in African‐American women
Kranzler HR, Feinn R, Nelson EC, Covault J, Anton RF, Farrer L, Gelernter J. A CRHR1 haplotype moderates the effect of adverse childhood experiences on lifetime risk of major depressive episode in African‐American women. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2011, 156: 960-968. PMID: 21998007, PMCID: PMC3227028, DOI: 10.1002/ajmg.b.31243.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAlcohol DrinkingBlack or African AmericanChildChild AbuseDepressionDepressive Disorder, MajorFemaleGene FrequencyGenetic Predisposition to DiseaseHaplotypesHumansMiddle AgedPolymorphism, Single NucleotideReceptors, Corticotropin-Releasing HormoneStress, PsychologicalSubstance-Related DisordersConceptsMajor depressive episodeAdverse childhood experiencesRisk of depressionTAT haplotypeAlcohol dependenceDepressive episodeLifetime riskAA womenCorticotropin-releasing hormone type 1 receptorOdds of MDERisk of MDELifetime substance use disorderType 1 receptorSubstance use disordersAfrican AmericansAfrican American womenChildhood experiencesDepression riskThree-SNP haplotypeAD riskUse disordersAdult depressionAlcohol consumptionCRHR1 haplotypeCRHR1