2025
Moderation of treatment outcomes by polygenic risk for alcohol‐related traits in placebo‐controlled trials of topiramate
Kranzler H, Jinwala Z, Davis C, Xu H, Biernacka J, Zhou H, Kember R, Gelernter J, Feinn R. Moderation of treatment outcomes by polygenic risk for alcohol‐related traits in placebo‐controlled trials of topiramate. Alcohol Clinical And Experimental Research 2025, 49: 1297-1305. PMID: 40445294, PMCID: PMC12173784, DOI: 10.1111/acer.70052.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismFemaleFructoseGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMultifactorial InheritanceTopiramateTreatment OutcomeConceptsHeavy drinking daysAlcohol use disorderProblematic alcohol useAlcohol-related problemsPlacebo-controlled trialModerators of treatment outcomePlacebo-controlled trial of topiramateReduce heavy drinking daysTreat alcohol use disorderAlcohol-related traitsTrial of topiramateResponse to topiramateEffects of topiramateTime to relapseGenome-wide association studiesTopiramate's effectsAUD treatmentDrinking daysUse disorderTopiramate groupPolygenic riskHeavy drinkingAlcohol usePharmacogenetic approachShort IndexTargeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
Chapman N, Navas P, Dorschner M, Mehaffey M, Wigg K, Price K, Naumova O, Kerr E, Guger S, Lovett M, Grigorenko E, Berninger V, Barr C, Wijsman E, Raskind W. Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts. PLOS ONE 2025, 20: e0324006. PMID: 40424442, PMCID: PMC12112411, DOI: 10.1371/journal.pone.0324006.Peer-Reviewed Original ResearchConceptsEvidence of associationLarge-scale sequencing studiesCis-acting regulatory regionsGenome-wide association studiesAggregating rare variantsRare exonic variantsDetected significant evidenceSingle nucleotide polymorphismsGenomic variationDeleterious variantsAssociated with reduced performanceAssociation studiesLarge-effectRegulatory elementsTranscriptional regulationRegulatory regionsQuantitative phenotypesCandidate genesExonic variantsChromosome 6Sequencing studiesSingle variantsCoding exonsMultiple traitsGenetic basisInvestigating the familiality of trichotillomania and excoriation disorder
Chen D, Farhat L, Lebowitz E, Silverman W, Bloch M, Fernandez T, Olfson E. Investigating the familiality of trichotillomania and excoriation disorder. Psychiatry Research 2025, 350: 116560. PMID: 40449230, PMCID: PMC12179820, DOI: 10.1016/j.psychres.2025.116560.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedChildChild, PreschoolCross-Sectional StudiesExcoriation DisorderFamilyFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedTrichotillomaniaYoung AdultConceptsFamily history of mental health disordersFirst-degreeHistory of mental health disordersSelf-reported family historyExcoriation disorderFamily history of individualsMental health historyMental health disordersFamily history of anxietyHistory of anxietyCross-sectional survey responsesFirst-degree relativesHealth historyHealth disordersFamily historySurvey responsesAged 4Etiological underpinningsTrichotillomaniaAnxietyDepressionIndividualsHistory of individualsDisordersEnvironmental factorsExamining socioeconomic differences in sepsis risk and mediation by modifiable factors: a Mendelian randomization study
Stensrud V, Rogne T, Flatby H, Mohus R, Gustad L, Nilsen T. Examining socioeconomic differences in sepsis risk and mediation by modifiable factors: a Mendelian randomization study. BMC Infectious Diseases 2025, 25: 739. PMID: 40410669, PMCID: PMC12103053, DOI: 10.1186/s12879-025-11130-y.Peer-Reviewed Original ResearchMeSH KeywordsEducational StatusFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMendelian Randomization AnalysisRisk FactorsSepsisSocioeconomic FactorsConceptsSummary-level dataSocioeconomic differencesGenome-wide association studiesGenetic instrumentsEducational attainmentMendelian randomizationMR analysisStandard deviation increaseBias due to population stratificationOdds ratioPreventive factorsMR-Egger regressionExamined socioeconomic differencesMultivariable MR analysisEffect of smoking initiationAssociation studiesMendelian randomization studiesEffects of educational attainmentDeviation increaseYears of educationBody mass indexBackgroundEducational attainmentDynastic effectsMedian OREgger regressionGermline testing for prostate cancer: current state and opportunities for enhanced access
Loeb S, Vadaparampil S, Giri V. Germline testing for prostate cancer: current state and opportunities for enhanced access. EBioMedicine 2025, 116: 105705. PMID: 40398351, PMCID: PMC12148599, DOI: 10.1016/j.ebiom.2025.105705.Peer-Reviewed Original ResearchMeSH KeywordsGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleProstatic NeoplasmsConceptsGermline testingProstate cancerHereditary cancer assessmentFamily cancer historyHereditary cancer syndromesGenetic counseling programsCancer-related outcomesProstate cancer careCancer historyCancer syndromesDelivery modelsAdvanced prostate cancerMetastatic prostate cancerHigh-risk featuresImplementation strategiesBenefits of GTCounseling programCancer assessmentEnhanced accessTested patientsDisparitiesPCA-relatedPatientsGuidelinesProstateThree-year lifestyle changes, genetic risk, and risk of frailty among older adults: A national community-based cohort study
Zhong W, Wang X, Song W, Chen H, Xie J, Yan H, Wang J, Lv Y, Li Z, Shi X, Mao C. Three-year lifestyle changes, genetic risk, and risk of frailty among older adults: A national community-based cohort study. Clinical Nutrition 2025, 50: 29-37. PMID: 40367593, DOI: 10.1016/j.clnu.2025.04.033.Peer-Reviewed Original ResearchConceptsRisk of frailtyGenetic riskHealthy lifestyleUnhealthy lifestyleOlder adultsFrailty riskLate-lifeLifestyle changesChinese Longitudinal Healthy Longevity SurveyCommunity-based cohort studyHazard ratioPolygenic risk scoresGenetic risk groupsModerate-to-moderatelyCox proportional hazards regression modelsProportional hazards regression modelsLifestyle scoreHazards regression modelsLongevity SurveyHigh frailty riskPrevent frailtyLifestyle factorsFrailty indexCohort studyLifestyle combinationGenome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Strom N, Gerring Z, Galimberti M, Yu D, Halvorsen M, Abdellaoui A, Rodriguez-Fontenla C, Sealock J, Bigdeli T, Coleman J, Mahjani B, Thorp J, Bey K, Burton C, Luykx J, Zai G, Alemany S, Andre C, Askland K, Bäckman J, Banaj N, Barlassina C, Nissen J, Bienvenu O, Black D, Bloch M, Børte S, Bosch R, Breen M, Brennan B, Brentani H, Buxbaum J, Bybjerg-Grauholm J, Byrne E, Cabana-Dominguez J, Camarena B, Camarena A, Cappi C, Carracedo A, Casas M, Cavallini M, Ciullo V, Cook E, Crosby J, Cullen B, De Schipper E, Delorme R, Djurovic S, Elias J, Estivill X, Falkenstein M, Fundin B, Garner L, Gironda C, Goes F, Grados M, Grove J, Guo W, Haavik J, Hagen K, Harrington K, Havdahl A, Höffler K, Hounie A, Hucks D, Hultman C, Janecka M, Jenike E, Karlsson E, Kelley K, Klawohn J, Krasnow J, Krebs K, Lange C, Lanzagorta N, Levey D, Lindblad-Toh K, Macciardi F, Maher B, Mathes B, McArthur E, McGregor N, McLaughlin N, Meier S, Miguel E, Mulhern M, Nestadt P, Nurmi E, O’Connell K, Osiecki L, Ousdal O, Palviainen T, Pedersen N, Piras F, Piras F, Potluri S, Rabionet R, Ramirez A, Rauch S, Reichenberg A, Riddle M, Ripke S, Rosário M, Sampaio A, Schiele M, Skogholt A, Sloofman L, Smit J, Artigas M, Thomas L, Tifft E, Vallada H, van Kirk N, Veenstra-VanderWeele J, Vulink N, Walker C, Wang Y, Wendland J, Winsvold B, Yao Y, Zhou H, Agrawal A, Alonso P, Berberich G, Bucholz K, Bulik C, Cath D, Denys D, Eapen V, Edenberg H, Falkai P, Fernandez T, Fyer A, Gaziano J, Geller D, Grabe H, Greenberg B, Hanna G, Hickie I, Hougaard D, Kathmann N, Kennedy J, Lai D, Landén M, Hellard S, Leboyer M, Lochner C, McCracken J, Medland S, Mortensen P, Neale B, Nicolini H, Nordentoft M, Pato M, Pato C, Pauls D, Piacentini J, Pittenger C, Posthuma D, Ramos-Quiroga J, Rasmussen S, Richter M, Rosenberg D, Ruhrmann S, Samuels J, Sandin S, Sandor P, Spalletta G, Stein D, Stewart S, Storch E, Stranger B, Turiel M, Werge T, Andreassen O, Børglum A, Walitza S, Hveem K, Hansen B, Rück C, Martin N, Milani L, Mors O, Reichborn-Kjennerud T, Ribasés M, Kvale G, Mataix-Cols D, Domschke K, Grünblatt E, Wagner M, Zwart J, Breen G, Nestadt G, Kaprio J, Arnold P, Grice D, Knowles J, Ask H, Verweij K, Davis L, Smit D, Crowley J, Scharf J, Stein M, Gelernter J, Mathews C, Derks E, Mattheisen M. Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder. Nature Genetics 2025, 57: 1389-1401. PMID: 40360802, PMCID: PMC12165847, DOI: 10.1038/s41588-025-02189-z.Peer-Reviewed Original ResearchMeSH KeywordsAdultCase-Control StudiesFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleObsessive-Compulsive DisorderPolymorphism, Single NucleotideConceptsObsessive-compulsive disorderGenome-wide association studiesGenetic riskObsessive-compulsive disorder casesGenome-wide significant lociMedium spiny neuronsGenome-wide analysisMajor histocompatibility complexGene-based approachPsychiatric disordersSpiny neuronsTourette syndromeAnorexia nervosaSignificant lociEffector genesAssociation studiesAssociated with excitatory neuronsMultiple genesGenetic variantsAssociated with inflammatory bowel diseaseBody mass indexGenetic heritabilityDisordersExcitatory neuronsInflammatory bowel diseaseElectronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes
Singh V, Rafter T, Sharbatji M, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. Electronic health record-based registry for identification of individuals at risk for hereditary cancer syndromes. Journal Of Medical Genetics 2025, 62: 457-463. PMID: 40350248, DOI: 10.1136/jmg-2025-110718.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedElectronic Health RecordsFemaleGenetic Predisposition to DiseaseGenetic TestingHumansMaleMiddle AgedNeoplastic Syndromes, HereditaryRegistriesYoung AdultConceptsHereditary cancer syndromesElectronic health recordsGenetic testingElectronic health record-based registryCancer syndromesIdentification of individualsFamily history of cancerFamily historyFamily history criteriaAt-riskHistory of cancerAt-risk individualsHealth recordsPathogenic variantsProspective identification of individualsRegistryActive patientsSyndrome identificationFamily relationshipsIncreased diagnostic rateCancer-related survivalStreamlined processProspective identificationIndividualsTesting needsOptimism moderates the relationship between inflammatory polygenic risk and major depressive disorder in U.S. Military veterans
Fischer I, Overstreet C, Cabrera-Mendoza B, Qiu D, Krystal J, Polimanti R, Gelernter J, Pietrzak R. Optimism moderates the relationship between inflammatory polygenic risk and major depressive disorder in U.S. Military veterans. The World Journal Of Biological Psychiatry 2025, 26: 189-198. PMID: 40343713, DOI: 10.1080/15622975.2025.2498352.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedDepressive Disorder, MajorFemaleGenetic Predisposition to DiseaseHumansInflammationMaleMiddle AgedMultifactorial InheritanceOptimismRisk FactorsUnited StatesVeteransConceptsMajor depressive disorderU.S. military veteransPolygenic risk scoresDepressive disorderMilitary veteransMajor depressive disorder riskPsychosocial moderatorsMDD screeningLow optimismPolygenic riskHigher optimismNationally representative sampleTrauma burdenPredisposition to inflammationStandard deviation increaseUK BiobankGenetic riskPathway-based analysisVeteransIncreased oddsRepresentative sampleRisk scoreMedical conditionsInflammatory biomarkersChronic inflammationIntegrating HiTOP and RDoC frameworks Part I: Genetic architecture of externalizing and internalizing psychopathology
Davis C, Khan Y, Toikumo S, Jinwala Z, Boomsma D, Levey D, Gelernter J, Kember R, Kranzler H. Integrating HiTOP and RDoC frameworks Part I: Genetic architecture of externalizing and internalizing psychopathology. Psychological Medicine 2025, 55: e138. PMID: 40336358, PMCID: PMC12094639, DOI: 10.1017/s0033291725000856.Peer-Reviewed Original ResearchMeSH KeywordsAdultComorbidityDepressive Disorder, MajorFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLatent Class AnalysisMaleMental DisordersPsychopathologyConceptsGenome-wide association studiesMultivariate genome-wide association studyGenetic architectureComorbid forms of psychopathologyHierarchical Taxonomy of PsychopathologyBivariate causal mixture modelResearch Domain CriteriaTaxonomy of PsychopathologyPsychiatric classification systemsConfirmatory factor modelsInternalizing psychopathologyComorbid formsGenetic liabilityPsychopathologyTwo-factorHierarchical taxonomyModerate genetic correlationLatent factorsAssociation studiesBiological basisHiTOPReference panelGenetic underpinningsFactor modelGenetic variantsAssociations of Childhood Adversity and Polygenic Scores with Substance Use Initiation and Disorder Severity
SooHoo J, Davis C, Han A, Jinwala Z, Gelernter J, Feinn R, Kranzler H. Associations of Childhood Adversity and Polygenic Scores with Substance Use Initiation and Disorder Severity. Psychological Medicine 2025, 55: e132. PMID: 40314172, PMCID: PMC12094658, DOI: 10.1017/s0033291725001163.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAdverse Childhood ExperiencesAlcoholismBlack or African AmericanFemaleGene-Environment InteractionGenetic Predisposition to DiseaseHumansMaleMarijuana AbuseMiddle AgedMultifactorial InheritanceOpioid-Related DisordersSeverity of Illness IndexSubstance-Related DisordersWhiteYoung AdultConceptsSubstance use disorder severitySubstance use disordersAdverse childhood experiencesGene-by-environment interactionsSubstance use initiationPolygenic scoresOpioid use disorderUse disorderEUR individualsAssociated with AUD severityCannabis use disorderAssociated with adverse childhood experiencesSeverity of alcoholismLatent factorsSubstance use disorder riskGene-environment correlationAssociation of childhood adversityAssociation of adverse childhood experiencesAncestry groupsAUD severityDisorder severityChildhood adversityPolygenic riskChildhood experiencesEnvironmental influencesAdvancing translational exposomics: bridging genome, exposome and personalized medicine
Sarigiannis D, Karakitsios S, Anesti O, Stem A, Valvi D, Sumner S, Chatzi L, Snyder M, Thompson D, Vasiliou V. Advancing translational exposomics: bridging genome, exposome and personalized medicine. Human Genomics 2025, 19: 48. PMID: 40307849, PMCID: PMC12044731, DOI: 10.1186/s40246-025-00761-6.Peer-Reviewed Original ResearchMeSH KeywordsEnvironmental ExposureExposomeGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenomicsHumansPrecision MedicineTranslational Research, BiomedicalConceptsExposome-wide association studyBridge genomicsLifestyle exposuresEnhancing causal inferencePublic health decision-makingEnvironmental health researchHealth decision-makingMulti-omics technologiesGenomic variationGenomic dataAssociation studiesHealth outcomesBioinformatics approachHealth researchPrecision preventionGenetic variabilityExposome dataExposure-response relationshipMulti-omicsGenomeInternal exposomeVulnerable populationsComplex diseasesDisease phenotypePublic healthDifferential gene expression study in whole blood identifies candidate genes for psychosis in African American individuals
Knowles E, Peralta J, Rodrigue A, Mathias S, Mollon J, Leandro A, Curran J, Blangero J, Glahn D. Differential gene expression study in whole blood identifies candidate genes for psychosis in African American individuals. Schizophrenia Research 2025, 280: 85-94. PMID: 40267851, PMCID: PMC12107465, DOI: 10.1016/j.schres.2025.04.018.Peer-Reviewed Original ResearchMeSH KeywordsAdultBlack or African AmericanFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPsychotic DisordersSchizophreniaTranscriptomeWhiteYoung AdultConceptsGene expressionGenome-wide associationDifferential gene expression studiesGene co-expression network analysisWeighted gene co-expression network analysisCo-expression network analysisGene expression phenotypesIndividuals of European descentOverrepresentation of biological processesGene expression studiesGene expression analysisAfrican American ancestryGenomic regionsPsychosis-spectrum disordersRNA-seqAfrican American individualsPopulation stratificationAssociated with psychosisEtiology of psychosisSignificant genesCellular functionsExpression phenotypesExpression studiesAmerican ancestryExpression analysisIdentification of genetic architecture shared between schizophrenia and Alzheimer’s disease
Liu H, Xie Y, Ji Y, Zhou Y, Xu J, Tang J, Liu N, Ding H, Qin W, Liu F, Yu C. Identification of genetic architecture shared between schizophrenia and Alzheimer’s disease. Translational Psychiatry 2025, 15: 150. PMID: 40240757, PMCID: PMC12003746, DOI: 10.1038/s41398-025-03348-w.Peer-Reviewed Original ResearchMeSH KeywordsAlzheimer DiseaseFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMultifactorial InheritancePolymorphism, Single NucleotideSchizophreniaConceptsPolygenic overlapFalse discovery rateGenetic architectureAlzheimer's diseaseConditional/conjunctional false discovery rateConditional false discovery rateGenome-wide association studiesIndividuals of European ancestryConcordant effect directionsGenetic risk architectureMolecular genetic mechanismsHeritable brain disorderAssociation studiesGenetic mechanismsGenetic variantsEuropean ancestryGenetic associationObserved comorbiditySchizophreniaSNPsDiscovery rateCognitive declineRisk architectureBrain disordersGenetic correlationsDLG2 rs11607886 polymorphism associated with schizophrenia and precuneus functional changes
Zhu H, Wu Z, Wang J, Zhang E, Zhang S, Yang Y, Li W, Shi H, Yang G, Lv L, Zhang Y. DLG2 rs11607886 polymorphism associated with schizophrenia and precuneus functional changes. Schizophrenia Research 2025, 280: 50-58. PMID: 40220608, DOI: 10.1016/j.schres.2025.04.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultFemaleGenetic Predisposition to DiseaseGenotypeGuanylate KinasesHumansMagnetic Resonance ImagingMaleMiddle AgedParietal LobePolymorphism, Single NucleotideSchizophreniaTumor Suppressor ProteinsYoung AdultConceptsFunctional magnetic resonance imagingSZ patientsPrecuneus gyrusRight middle temporal gyrusHealthy controlsMiddle temporal gyrusIncreased risk of SZSevere mental disordersRisk of SZPathogenesis of SZAssociated with SZClinical symptom assessmentSignificant main effectLeft precuneus gyrusTemporal gyrusBrain regionsMental disordersSchizophreniaCognitive functionBrain functionSZ susceptibilityMain effectGyrusMagnetic resonance imagingSingle nucleotide polymorphismsInvestigation of NPM1 mutation frequency in cutaneous blastic plasmacytoid dendritic cell neoplasms
Hamdan H, Siddon A, Ramia de Cap M, Germans S, Cantu M, Fuda F, Vandergriff T, Aggarwal N, Weinberg O. Investigation of NPM1 mutation frequency in cutaneous blastic plasmacytoid dendritic cell neoplasms. Human Pathology 2025, 158: 105766. PMID: 40216030, DOI: 10.1016/j.humpath.2025.105766.Peer-Reviewed Original ResearchConceptsBlastic plasmacytoid dendritic cell neoplasmBPDCN patientsBPDCN casesCutaneous blastic plasmacytoid dendritic cell neoplasmAcute myeloid leukemiaPlasmacytoid dendritic cell neoplasmDendritic cell neoplasmNPM1 mutationsMyeloid sarcomaCell neoplasmsSarcoma patientsImmunohistochemical stainingAbsence of NPM1 mutationsFrequency of NPM1 mutationsBone marrow of patientsLow white blood cell countCutaneous myeloid sarcomaWhite blood cell countMarrow of patientsTime of diagnosisHigher hemoglobin levelsBlood cell countPercentage of involvementSRSF2 mutationsComplex karyotypeExome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families
Büyükgöl F, Gürdamar B, Aluçlu M, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül S, Çetin Ö, Demir C, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda M, Saip S, Seferoğlu M, Sever E, Sezerman O, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan Ö, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin M, Yüceyar N, Siva A, Turanlı E. Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. Scientific Reports 2025, 15: 11682. PMID: 40188234, PMCID: PMC11972333, DOI: 10.1038/s41598-025-94691-x.Peer-Reviewed Original ResearchMeSH KeywordsAdultExomeExome SequencingFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansLamininMaleMiddle AgedMultiple SclerosisPedigreeTurkeyConceptsSegregation analysisExome sequencingGene-based burden testsGene-based burden analysisRare coding variantsVariants associated with MSWhole-exome sequencingPathway enrichment analysisMultiplex MS familiesHuman leukocyte antigen lociContribution of low-frequencyAdmixed populationsBurden testsHemidesmosome assemblyMultiple sclerosis susceptibilityAllele frequenciesAntigen lociEnrichment analysisBurden analysisMS familiesGenesTurkish familyExtracellular matrixProgressive neurodegenerationITPR1 genePsychiatric 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 Original ResearchMeSH KeywordsCaribbean RegionGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenomicsHumansLatin AmericaMental DisordersConceptsGenome-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 landscapeLociAncestryThe inflammatory and genetic mechanisms underlying the cumulative effect of co-occurring pain conditions on depression
Jiang R, Geha P, Rosenblatt M, Wang Y, Fu Z, Foster M, Dai W, Calhoun V, Sui J, Spann M, Scheinost D. The inflammatory and genetic mechanisms underlying the cumulative effect of co-occurring pain conditions on depression. Science Advances 2025, 11: eadt1083. PMID: 40173244, PMCID: PMC11964001, DOI: 10.1126/sciadv.adt1083.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkersC-Reactive ProteinChronic PainComorbidityDepressionFemaleGenetic Predisposition to DiseaseHumansInflammationMaleMendelian Randomization AnalysisMiddle AgedPainRisk FactorsConceptsDepression riskChronic pain conditionsPain conditionsPrevalence of comorbid depressionPain scoresUK Biobank participantsPain-free individualsComposite pain scoresHigh-risk individualsPain screeningMendelian randomizationBiobank participantsPain sitesDepression incidenceComorbid depressionIncreased riskBody sitesDepressionC-reactive proteinPainCausal inferenceFollow-upScoresRiskInflammatory markersAdvancing the Evaluation and Management of CDH1-Associated Gastric Cancer.
Lerner B, Gupta S, Burke C, Kupfer S, Katona B, Grady W, Samadder J, Yurgelun M, Kelly K, Moreno Prats M, Joseph N, Idos G, Swanson B, Kieber-Emmons A, Weiss J, Llor X. Advancing the Evaluation and Management of CDH1-Associated Gastric Cancer. Journal Of The National Comprehensive Cancer Network 2025, 23 PMID: 40203872, DOI: 10.6004/jnccn.2025.7006.Peer-Reviewed Original ResearchMeSH KeywordsAntigens, CDCadherinsCarcinoma, Signet Ring CellCdh1 ProteinsGastrectomyGenetic Predisposition to DiseaseGerm-Line MutationHumansStomach NeoplasmsConceptsSignet ring cell carcinomaPathogenic variant carriersGastric cancerEndoscopic surveillanceTotal gastrectomyVariant carriersGermline pathogenic variant carriersBenefits of gastrectomyCDH1 pathogenic variantsRisk of gastric cancerAdvanced gastric cancerProphylactic total gastrectomyPathogenic germline variantsFollow-up periodCumulative lifetime riskEvidence-based recommendationsUpper endoscopyCell carcinomaGlobal health concernDetected signet ring cell carcinomasGermline variantsPathogenic variantsGastrectomyGastrectomy specimensAdvanced cancer
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