2025
Observational and Genetic Analyses of Traumatic Experiences and Endometriosis
Koller D, Løkhammer S, Goroshchuk O, Denner V, Stiltner B, Mitjans M, He J, Taylor H, Lawn R, Koenen K, Polimanti R. Observational and Genetic Analyses of Traumatic Experiences and Endometriosis. JAMA Psychiatry 2025, 82: 386-394. PMID: 39908042, PMCID: PMC11800128, DOI: 10.1001/jamapsychiatry.2024.4694.Peer-Reviewed Original ResearchPolygenic risk scoresLatent class analysisAssociated with increased oddsTraumatic experiencesImpact of childhoodIndividual-level dataCase-control studyStressful eventsGenetic predispositionTrauma-related outcomesUnaffected womenMain OutcomesFinnGen cohortRisk scoreAssociation of endometriosisPosttraumatic stress disorderTrauma eventsMeta-analysisSexual traumaAssociated with endometriosisContact traumaPotential associationStress disorderPsychological traumaPhenotypic associations
2021
Pleiotropic effects of telomere length loci with brain morphology and brain tissue expression
Pathak GA, Wendt FR, Levey DF, Mecca AP, van Dyck CH, Gelernter J, Polimanti R. Pleiotropic effects of telomere length loci with brain morphology and brain tissue expression. Human Molecular Genetics 2021, 30: 1360-1370. PMID: 33831179, PMCID: PMC8255129, DOI: 10.1093/hmg/ddab102.Peer-Reviewed Original ResearchConceptsMethylation expressionGenetic variantsMapping gene functionTelomere lengthChromatin associationChromatin profilesGene functionGenetic colocalizationGene mappingGenomic relationshipsNeuropsychiatric traitsPleiotropic rolesDrug-gene interactionsCertain lociBrain tissue expressionGenesLociPleiotropic effectsBrain morphology measuresNucleotide polymorphismsAncestry populationsTissue expressionPhenotypic associationsPleiotropyAncestry groups
2017
Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks
Raisaro J, Tramèr F, Ji Z, Bu D, Zhao Y, Carey K, Lloyd D, Sofia H, Baker D, Flicek P, Shringarpure S, Bustamante C, Wang S, Jiang X, Ohno-Machado L, Tang H, Wang X, Hubaux J. Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks. Journal Of The American Medical Informatics Association 2017, 24: 799-805. PMID: 28339683, PMCID: PMC5881894, DOI: 10.1093/jamia/ocw167.Peer-Reviewed Original ResearchConceptsIndividual genomesGenome ProjectGenomic dataGenetic dataGenomeRare allelesPhenotypic associationsGenomicsChromosomes
2015
Polygenic risk for alcohol dependence associates with alcohol consumption, cognitive function and social deprivation in a population‐based cohort
Clarke T, Smith AH, Gelernter J, Kranzler HR, Farrer LA, Hall LS, Fernandez‐Pujals A, MacIntyre DJ, Smith BH, Hocking LJ, Padmanabhan S, Hayward C, Thomson PA, Porteous DJ, Deary IJ, McIntosh AM. Polygenic risk for alcohol dependence associates with alcohol consumption, cognitive function and social deprivation in a population‐based cohort. Addiction Biology 2015, 21: 469-480. PMID: 25865819, PMCID: PMC4600406, DOI: 10.1111/adb.12245.Peer-Reviewed Original ResearchConceptsCognitive abilitiesCognitive functionAlcohol dependenceCognitive impairmentPrevalence of problemsPolygenic risk scoresOnset of dependenceCognitive dysfunctionFamily Health StudyScottish Family Health StudySocial deprivationSignificant negative associationHeavy drinkingGenetic overlapNegative associationImpairmentPhenotypic associationsAlcohol consumptionCognitionDeprivationFuture workPresent studyAbilityAssociationDrinkingSchizotypal Personality Disorder
Garakani A, Siever L. Schizotypal Personality Disorder. 2015, 1-7. DOI: 10.1002/9781118625392.wbecp390.ChaptersSchizotypal personality disorderPersonality disorderLack of empathySchizophrenia spectrum disordersPatterns of functioningSpectrum disorderFocus of treatmentOccupational functioningCognitive deficitsMagical thinkingNeural abnormalitiesCognitive impairmentStereotyped behaviorDopamine agonistsAntipsychotic treatmentSchizophreniaChronic disordersFunctioningHealthy controlsHealthy relativesPsychiatric hospitalizationClinical linesDisordersPhenotypic associationsFamilial studies
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