2025
Genome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development.
Ghouse J, Gellert-Kristensen H, O’Rourke C, Seidelin A, Thorleifsson G, Sveinbjörnsson G, Tragante V, Konkwo C, Brancale J, Vilarinho S, Eyrich T, Ahlberg G, Bundgaard J, Rand S, Lundegaard P, Sørensen E, Mikkelsen C, Træholt J, Erikstrup C, Dinh K, Bruun M, Jensen B, Bay J, Brunak S, Banasik K, Ullum H, Consortium E, Laisk T, Mägi R, Nadauld L, Knowlton K, Knight S, Gluud L, Vistisen K, Björnsson E, Ulfarsson M, Sulem P, Holm H, Pedersen O, Ostrowski S, Gudbjartsson D, Rafnar T, Stefansson K, Lassen U, Pommergaard H, Hillingsø J, Andersen J, Bundgaard H, Stender S. Genome-wide meta-analysis identifies nine loci to be associated with higher risk of hepatocellular carcinoma development. JHEP Reports 2025, 101485. DOI: 10.1016/j.jhepr.2025.101485.Peer-Reviewed Original ResearchGenome-wide association studiesAssociated with higher riskGenome-wide statistical significanceIncident hepatocellular carcinomaMendelian randomization analysisGenome-wide meta-analysisIdentified variantsPer-allele effectsMeta-analysisMendelian randomizationGenetic risk lociPrevalent obesityRandomization analysisAlcohol intakeMeta-analysesRisk lociAssociation studiesRisk factorsGenetic variantsGenetic underpinningsRisk of hepatocellular carcinomaLociGenetic effectsCohortConcordant effectsPsychiatric 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 ResearchConceptsGenome-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
Polygenic Risk of Epilepsy and Poststroke Epilepsy
Clocchiatti-Tuozzo S, Rivier C, Misra S, Zelano J, Mazumder R, Sansing L, de Havenon A, Hirsch L, Liebeskind D, Gilmore E, Sheth K, Kim J, Worrall B, Falcone G, Mishra N. Polygenic Risk of Epilepsy and Poststroke Epilepsy. Stroke 2024, 55: 2835-2843. PMID: 39502073, PMCID: PMC11653790, DOI: 10.1161/strokeaha.124.047459.Peer-Reviewed Original ResearchParticipants of European ancestryRisk of poststroke epilepsyPolygenic riskPoststroke epilepsyEuropean ancestryGenome-wide association study meta-analysisPRS decileCase-control genetic association studyGenetic risk lociLowest decilePolygenic risk scoresGenetic association studiesMultivariate logistic regression modelStudy meta-analysisMultivariate logistic regression resultsHistory of strokeLogistic regression modelsRisk lociAssociation studiesStroke survivorsUK BiobankGenetic informationGenetic ancestryLogistic regression resultsGenetic variants
2023
Genome-wide assessment of genetic risk loci for childhood acute lymphoblastic leukemia in Japanese patients
Hangai M, Kawaguchi T, Takagi M, Matsuo K, Jeon S, Chiang C, Dewan A, De Smith A, Imamura T, Okamoto Y, Saito A, Deguchi T, Kubo M, Tanaka Y, Ayukawa Y, Hori T, Ohki K, Kiyokawa N, Inukai T, Arakawa Y, Mori M, Hasegawa D, Tomizawa D, Fukushima H, Yuza Y, Noguchi Y, Taneyama Y, Ota S, Goto H, Yanagimachi M, Keino D, Koike K, Toyama D, Nakazawa Y, Nakamura K, Moriwaki K, Sekinaka Y, Morita D, Hirabayashi S, Hosoya Y, Yoshimoto Y, Yoshihara H, Ozawa M, Kobayashi S, Morisaki N, Gyeltshen T, Takahashi O, Okada Y, Matsuda M, Tanaka T, Inazawa J, Takita J, Ishida Y, Ohara A, Metayer C, Wiemels J, Ma X, Mizutani S, Koh K, Momozawa Y, Horibe K, Matsuda F, Kato M, Manabe A, Urayama K. Genome-wide assessment of genetic risk loci for childhood acute lymphoblastic leukemia in Japanese patients. Haematologica 2023, 109: 1247-1252. PMID: 37881853, PMCID: PMC10985430, DOI: 10.3324/haematol.2023.282914.Peer-Reviewed Original ResearchMultivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders
Hatoum A, Colbert S, Johnson E, Huggett S, Deak J, Pathak G, Jennings M, Paul S, Karcher N, Hansen I, Baranger D, Edwards A, Grotzinger A, Tucker-Drob E, Kranzler H, Davis L, Sanchez-Roige S, Polimanti R, Gelernter J, Edenberg H, Bogdan R, Agrawal A. Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders. Nature Mental Health 2023, 1: 210-223. PMID: 37250466, PMCID: PMC10217792, DOI: 10.1038/s44220-023-00034-y.Peer-Reviewed Original ResearchGenome-wide associationGenetic risk lociIndependent single nucleotide polymorphismsProblematic tobacco useSingle nucleotide polymorphismsRisk lociHigh polygenicityLociReceptor geneAddiction risk factorsPolygenic risk scoresEuropean descentPolygenicityGenesSummary statisticsSubstance use disordersSomatic conditionsAncestryRegulationConfersUse disordersPolymorphismGenetic liabilityDopamine regulationPDE4BIdentification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans
Kimbrel N, Ashley-Koch A, Qin X, Lindquist J, Garrett M, Dennis M, Hair L, Huffman J, Jacobson D, Madduri R, Trafton J, Coon H, Docherty A, Mullins N, Ruderfer D, Harvey P, McMahon B, Oslin D, Beckham J, Hauser E, Hauser M, Agarwal K, Ashley-Koch A, Aslan M, Beckham J, Begoli E, Bhattacharya T, Brown B, Calhoun P, Cheung K, Choudhury S, Cliff A, Cohn J, Crivelli S, Cuellar-Hengartner L, Deangelis H, Dennis M, Dhaubhadel S, Finley P, Ganguly K, Garvin M, Gelernter J, Hair L, Harvey P, Hauser E, Hauser M, Hengartner N, Jacobson D, Jones P, Kainer D, Kaplan A, Katz I, Kember R, Kimbrel N, Kirby A, Ko J, Kolade B, Lagergren J, Lane M, Levey D, Levin D, Lindquist J, Liu X, Madduri R, Manore C, Martins S, McCarthy J, McDevitt-Cashman M, McMahon B, Miller I, Morrow D, Oslin D, Pavicic-Venegas M, Pestian J, Pyarajan S, Qin X, Rajeevan N, Ramsey C, Ribeiro R, Rodriguez A, Romero J, Santel D, Schaefferkoetter N, Shi Y, Stein M, Sullivan K, Sun N, Tamang S, Townsend A, Trafton J, Walker A, Wang X, Wangia-Anderson V, Yang R, Yoon H, Yoo S, Zamora-Resendiz R, Zhao H, Docherty A, Mullins N, Coleman J, Shabalin A, Kang J, Murnyak B, Wendt F, Adams M, Campos A, DiBlasi E, Fullerton J, Kranzler H, Bakian A, Monson E, Rentería M, Andreassen O, Bulik C, Edenberg H, Kessler R, Mann J, Nurnberger J, Pistis G, Streit F, Ursano R, Awasthi S, Bergen A, Berrettini W, Bohus M, Brandt H, Chang X, Chen H, Chen W, Christensen E, Crawford S, Crow S, Duriez P, Edwards A, Fernández-Aranda F, Fichter M, Galfalvy H, Gallinger S, Gandal M, Gorwood P, Guo Y, Hafferty J, Hakonarson H, Halmi K, Hishimoto A, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan A, Kaye W, Keel P, Kennedy J, Kim M, Klump K, Levey D, Li D, Liao S, Lieb K, Lilenfeld L, Lori A, Magistretti P, Marshall C, Mitchell J, Myers R, Okazaki S, Otsuka I, Pinto D, Powers A, Ramoz N, Ripke S, Roepke S, Rozanov V, Scherer S, Schmahl C, Sokolowski M, Starnawska A, Strober M, Su M, Thornton L, Treasure J, Ware E, Watson H, Witt S, Woodside D, Yilmaz Z, Zillich L, Agerbo E, Børglum A, Breen G, Demontis D, Erlangsen A, Esko T, Gelernter J, Glatt S, Hougaard D, Hwu H, Kuo P, Lewis C, Li Q, Liu C, Martin N, McIntosh A, Medland S, Mors O, Nordentoft M, Nurnberger J, Olsen C, Porteous D, Smith D, Stahl E, Stein M, Wasserman D, Werge T, Whiteman D, Willour V, Coon H, Ruderfer D, Dedert E, Elbogen E, Fairbank J, Hurley R, Kilts J, Martindale S, Marx C, McDonald S, Moore S, Morey R, Naylor J, Rowland J, Shura R, Swinkels C, Tupler L, Van Voorhees E, Yoash-Gantz R, Gaziano J, Muralidhar S, Ramoni R, Chang K, O’Donnell C, Tsao P, Breeling J, Hauser E, Sun Y, Huang G, Casas J, Moser J, Whitbourne S, Brewer J, Conner T, Argyres D, Stephens B, Brophy M, Humphries D, Selva L, Do N, Shayan S, Cho K, Churby L, Wilson P, McArdle R, Dellitalia L, Mattocks K, Harley J, Whittle J, Jacono F, Wells J, Gutierrez S, Gibson G, Hammer K, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Mathew R, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Ivins D, Mastorides S, Moorman J, Gappy S, Klein J, Ratcliffe N, Florez H, Okusaga O, Murdoch M, Sriram P, Yeh S, Tandon N, Jhala D, Liangpunsakul S, Oursler K, Whooley M, Ahuja S, Constans J, Meyer P, Greco J, Rauchman M, Servatius R, Gaddy M, Wallbom A, Morgan T, Stapley T, Sherman S, Ross G, Strollo P, Boyko E, Meyer L, Gupta S, Huq M, Fayad J, Hung A, Lichy J, Hurley R, Robey B, Striker R. Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans. JAMA Psychiatry 2023, 80: 135-145. PMID: 36515925, PMCID: PMC9857322, DOI: 10.1001/jamapsychiatry.2022.3896.Peer-Reviewed Original ResearchConceptsMolecular genetic basisRisk lociSingle nucleotide variantsGWS lociGenetic basisGenomic risk lociRisk genesGenome-wide association studiesSignificant enrichmentGene-based analysisGenetic risk lociCandidate risk genesCyclic adenosine monophosphate (cAMP) signalingIdentification of novelPolygenic risk score analysisGene clusterFocal adhesionsGenetic substructureUbiquitination processChromosome 2Enrichment analysisAssociation studiesAxon guidanceAfrican ancestryNCAM1-TTC12
2022
Integrating human brain proteomic data with genome-wide association study findings identifies novel brain proteins in substance use traits
Toikumo S, Xu H, Gelernter J, Kember RL, Kranzler HR. Integrating human brain proteomic data with genome-wide association study findings identifies novel brain proteins in substance use traits. Neuropsychopharmacology 2022, 47: 2292-2299. PMID: 35941285, PMCID: PMC9630289, DOI: 10.1038/s41386-022-01406-1.Peer-Reviewed Original ResearchConceptsSubstance use traitsProteome-wide association studyUse traitsProtein abundanceAssociation studiesBrain protein abundanceWide association studyGenome-wide association study summary statisticsHuman brain proteomeFine-mapping analysisGenetic risk lociBrain transcriptomic dataEuropean ancestry individualsOpioid use disorderProteomic abundanceTranscriptomic levelTranscriptomic dataAlcohol use disorderProteomic dataBrain proteomeGenetic lociTranscript levelsRisk lociGene expressionSignificant genesInvestigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia
Xu K, Li S, Pandey P, Kang AY, Morimoto LM, Mancuso N, Ma X, Metayer C, Wiemels JL, de Smith AJ. Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia. Human Molecular Genetics 2022, 31: 3741-3756. PMID: 35717575, PMCID: PMC9616572, DOI: 10.1093/hmg/ddac137.Peer-Reviewed Original ResearchConceptsEpigenome-wide association studiesSingle nucleotide polymorphismsGenetic risk lociDNA methylationRisk single nucleotide polymorphismsRisk lociAssociation studiesHeritable genetic variationGenome-wide association studiesMost single nucleotide polymorphismsDNA methylation differencesNon-European populationsEpigenetic mechanismsGenetic variationMethylation differencesSignificant DMPsPromoter regionFunctional pathwaysCpG positionsAssociation analysisFunctional roleMethylationNucleotide polymorphismsLociBlood DNA
2021
Correction to: Pain Experience in Pancreatitis: Strong Association of Genetic Risk Loci for Anxiety and PTSD in Patients With Severe, Constant, and Constant-Severe Pain
Dunbar EK, Greer PJ, Amann ST, Alkaade S, Banks P, Brand R, Conwell DL, Forsmark CE, Gardner TB, Guda NM, Lewis MD, Machicado JD, Muniraj T, Papachristou GI, Romagnuolo J, Sandhu BS, Sherman S, Slivka A, Wilcox CM, Yadav D, Whitcomb DC, Consortium F. Correction to: Pain Experience in Pancreatitis: Strong Association of Genetic Risk Loci for Anxiety and PTSD in Patients With Severe, Constant, and Constant-Severe Pain. The American Journal Of Gastroenterology 2021, 117: 359-359. PMID: 34738548, DOI: 10.14309/ajg.0000000000001549.Peer-Reviewed Original ResearchGenetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia
Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal Of Human Genetics 2021, 108: 1823-1835. PMID: 34469753, PMCID: PMC8546033, DOI: 10.1016/j.ajhg.2021.08.004.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorBlood PlateletsCase-Control StudiesChildFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLymphocytesMaleMendelian Randomization AnalysisMiddle AgedMonocytesNeutrophilsPrecursor Cell Lymphoblastic Leukemia-LymphomaPrognosisProspective StudiesQuantitative Trait LociUnited KingdomConceptsTrait-associated variantsMulti-trait GWASBlood cell homeostasisWide association studyGenetic risk lociTrait variationHematologic traitsRisk lociAssociation studiesCell typesGenetic determinantsLociInfluence susceptibilityUK BiobankMendelian randomization analysisGWASEtiological relevanceRandomization analysisTraitsHomeostasisSusceptibilityAcute lymphoblastic leukemiaPain Experience in Pancreatitis: Strong Association of Genetic Risk Loci for Anxiety and PTSD in Patients With Severe, Constant, and Constant-Severe Pain
Dunbar EK, Greer PJ, Amann ST, Alkaade S, Banks P, Brand R, Conwell DL, Forsmark CE, Gardner TB, Guda NM, Lewis MD, Machicado JD, Muniraj T, Papachristou GI, Romagnuolo J, Sandhu BS, Sherman S, Slivka A, Wilcox CM, Yadav D, Whitcomb DC, Consortium F. Pain Experience in Pancreatitis: Strong Association of Genetic Risk Loci for Anxiety and PTSD in Patients With Severe, Constant, and Constant-Severe Pain. The American Journal Of Gastroenterology 2021, 116: 2128-2136. PMID: 34236339, PMCID: PMC8531869, DOI: 10.14309/ajg.0000000000001366.Peer-Reviewed Original ResearchConceptsPost-traumatic stress disorderChronic pancreatitisSevere painPain experienceThird of patientsPain management strategiesIdentification of patientsAbsence of painInflammatory syndromePain patternsCP patientsPain categoriesPain locusStudy cohortAcute pancreatitisAdrenal axisCP subjectsPainGenetic predispositionPatientsPsychiatric conditionsGenetic risk lociPTSD riskPancreatitisStress disorderGenome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes
Sherva R, Zhu C, Wetherill L, Edenberg H, Johnson E, Degenhardt L, Agrawal A, Martin N, Nelson E, Kranzler H, Gelernter J, Farrer L. Genome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes. Exploration Of Medicine 2021 DOI: 10.37349/emed.2020.00032.Peer-Reviewed Original ResearchGenome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes
Sherva R, Zhu C, Wetherill L, Edenberg HJ, Johnson E, Degenhardt L, Agrawal A, Martin NG, Nelson E, Kranzler HR, Gelernter J, Farrer LA. Genome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes. Exploration Of Medicine 2021, 2: 60-73. PMID: 34124712, PMCID: PMC8192073, DOI: 10.37349/emed.2021.00032.Peer-Reviewed Original ResearchCox proportional hazards regressionProportional hazards regressionAfrican AmericansDiscovery sampleSelf-reported useSubstantial morbidityHazards regressionHealth burdenIndependent cohortSubstance dependence phenotypesDependence diagnosisGenetic risk lociReplication cohortCocaine dependenceOpioidsDependence phenotypesCohortGenetic variantsTop findingsCocaineRisk lociDisorder resultsLarge percentageMulti-omics analysis to identify susceptibility genes for colorectal cancer
Yuan Y, Bao J, Chen Z, Villanueva A, Wen W, Wang F, Zhao D, Fu X, Cai Q, Long J, Shu X, Zheng D, Moreno V, Zheng W, Lin W, Guo X. Multi-omics analysis to identify susceptibility genes for colorectal cancer. Human Molecular Genetics 2021, 30: 321-330. PMID: 33481017, PMCID: PMC8485221, DOI: 10.1093/hmg/ddab021.Peer-Reviewed Original ResearchMeSH KeywordsCarcinogenesisCell Line, TumorCell ProliferationColorectal NeoplasmsDNA MethylationGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseGenomeGenome-Wide Association StudyHumansNerve Tissue ProteinsPolymorphism, Single NucleotideRepressor ProteinsRisk FactorsTranscriptomeConceptsGenome-wide association studiesMulti-omics analysisSusceptibility genesTarget genesPutative target genesGWAS-identified variantsMost genetic variantsDNA methylation dataNovel susceptibility genesGenotype-Tissue ExpressionGenetic risk lociPutative susceptibility genesGene regulationIntergenic regionPathogenic dysregulationCancer Genome AtlasEpithelial-mesenchymal transitionRisk lociGene expressionMethylation dataAssociation studiesGenesCell behaviorGenetic variantsGenome Atlas
2020
Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism
Breen MS, Browne A, Hoffman GE, Stathopoulos S, Brennand K, Buxbaum JD, Drapeau E. Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism. Molecular Autism 2020, 11: 53. PMID: 32560742, PMCID: PMC7304190, DOI: 10.1186/s13229-020-00355-0.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAutistic DisorderChildChild, PreschoolChromosome DeletionChromosome DisordersChromosomes, Human, Pair 22FemaleGene Expression ProfilingGene Expression RegulationHumansInduced Pluripotent Stem CellsMaleNeural Stem CellsNeuronsReproducibility of ResultsWnt Signaling PathwayConceptsNeural progenitor cellsTranscriptional signatureGene co-expression network analysisHiPSC-NPCsCo-expression network analysisIndependent biological samplesHiPSC-derived neural cellsProgenitor cellsPostsynaptic density genesDistinct transcriptional signaturesGenetic risk lociHuman-induced pluripotent stem cellsPluripotent stem cellsPotassium channel activityProtein translationSpecific neurobiological pathwaysTranscriptional differencesEmbryonic developmentLoss of SHANK3Risk lociHiPSC neuronsMorphological phenotypesWnt pathwayGenesHiPSC clonesReproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program
Levey DF, Gelernter J, Polimanti R, Zhou H, Cheng Z, Aslan M, Quaden R, Concato J, Radhakrishnan K, Bryois J, Sullivan PF, Stein M. Reproducible Genetic Risk Loci for Anxiety: Results From ∼200,000 Participants in the Million Veteran Program. American Journal Of Psychiatry 2020, 177: 223-232. PMID: 31906708, PMCID: PMC7869502, DOI: 10.1176/appi.ajp.2019.19030256.Peer-Reviewed Original ResearchConceptsNovel genome-wide significant associationsGene expressionGenome-wide significant signalsGenome-wide significant associationMillion Veteran ProgramWide association studyGenetic risk lociSignificant genetic correlationsGenetic risk mechanismsGenetic architectureGlobal regulatorChromosome 3Risk lociChromosome 6Chromosome 7Association studiesLargest GWASLarge biobanksGlobal regulationGenetic correlationsContinuous traitsVeteran ProgramGWASsLociPrevious GWASs
2019
International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci
Nievergelt CM, Maihofer AX, Klengel T, Atkinson EG, Chen CY, Choi KW, Coleman JRI, Dalvie S, Duncan LE, Gelernter J, Levey DF, Logue MW, Polimanti R, Provost AC, Ratanatharathorn A, Stein MB, Torres K, Aiello AE, Almli LM, Amstadter AB, Andersen SB, Andreassen OA, Arbisi PA, Ashley-Koch AE, Austin SB, Avdibegovic E, Babić D, Bækvad-Hansen M, Baker DG, Beckham JC, Bierut LJ, Bisson JI, Boks MP, Bolger EA, Børglum AD, Bradley B, Brashear M, Breen G, Bryant RA, Bustamante AC, Bybjerg-Grauholm J, Calabrese JR, Caldas- de- Almeida J, Dale AM, Daly MJ, Daskalakis NP, Deckert J, Delahanty DL, Dennis MF, Disner SG, Domschke K, Dzubur-Kulenovic A, Erbes CR, Evans A, Farrer LA, Feeny NC, Flory JD, Forbes D, Franz CE, Galea S, Garrett ME, Gelaye B, Geuze E, Gillespie C, Uka AG, Gordon SD, Guffanti G, Hammamieh R, Harnal S, Hauser MA, Heath AC, Hemmings SMJ, Hougaard DM, Jakovljevic M, Jett M, Johnson EO, Jones I, Jovanovic T, Qin XJ, Junglen AG, Karstoft KI, Kaufman ML, Kessler RC, Khan A, Kimbrel NA, King AP, Koen N, Kranzler HR, Kremen WS, Lawford BR, Lebois LAM, Lewis CE, Linnstaedt SD, Lori A, Lugonja B, Luykx JJ, Lyons MJ, Maples-Keller J, Marmar C, Martin AR, Martin NG, Maurer D, Mavissakalian MR, McFarlane A, McGlinchey RE, McLaughlin KA, McLean SA, McLeay S, Mehta D, Milberg WP, Miller MW, Morey RA, Morris CP, Mors O, Mortensen PB, Neale BM, Nelson EC, Nordentoft M, Norman SB, O’Donnell M, Orcutt HK, Panizzon MS, Peters ES, Peterson AL, Peverill M, Pietrzak RH, Polusny MA, Rice JP, Ripke S, Risbrough VB, Roberts AL, Rothbaum AO, Rothbaum BO, Roy-Byrne P, Ruggiero K, Rung A, Rutten BPF, Saccone NL, Sanchez SE, Schijven D, Seedat S, Seligowski AV, Seng JS, Sheerin CM, Silove D, Smith AK, Smoller JW, Sponheim SR, Stein DJ, Stevens JS, Sumner JA, Teicher MH, Thompson WK, Trapido E, Uddin M, Ursano RJ, van den Heuvel LL, Van Hooff M, Vermetten E, Vinkers CH, Voisey J, Wang Y, Wang Z, Werge T, Williams MA, Williamson DE, Winternitz S, Wolf C, Wolf EJ, Wolff JD, Yehuda R, Young RM, Young KA, Zhao H, Zoellner LA, Liberzon I, Ressler KJ, Haas M, Koenen KC. International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci. Nature Communications 2019, 10: 4558. PMID: 31594949, PMCID: PMC6783435, DOI: 10.1038/s41467-019-12576-w.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesDisease genesAssociation studiesGenome-wide significant lociAfrican-ancestry analysesNon-coding RNAsGenetic risk lociParkinson's disease genesEuropean ancestry populationsNovel genesSignificant lociGenetic variationSpecific lociRisk lociAdditional lociLociAncestry populationsCommon variantsHeritability estimatesGenesGWASRNABiologySNPsPARK2Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
Chauhan G, Adams H, Satizabal C, Bis J, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith A, Jian X, Malik R, Traylor M, Pulit S, Amouyel P, Mazoyer B, Zhu Y, Kaffashian S, Schilling S, Beecham G, Montine T, Schellenberg G, Kjartansson O, Guðnason V, Knopman D, Griswold M, Windham B, Gottesman R, Mosley T, Schmidt R, Saba Y, Schmidt H, Takeuchi F, Yamaguchi S, Nabika T, Kato N, Rajan K, Aggarwal N, De Jager P, Evans D, Psaty B, Rotter J, Rice K, Lopez O, Liao J, Chen C, Cheng C, Wong T, Ikram M, van der Lee S, Amin N, Chouraki V, DeStefano A, Aparicio H, Romero J, Maillard P, DeCarli C, Wardlaw J, del C. Valdés Hernández M, Luciano M, Liewald D, Deary I, Starr J, Bastin M, Maniega S, Slagboom P, Beekman M, Deelen J, Uh H, Lemmens R, Brodaty H, Wright M, Ames D, Boncoraglio G, Hopewell J, Beecham A, Blanton S, Wright C, Sacco R, Wen W, Thalamuthu A, Armstrong N, Chong E, Schofield P, Kwok J, van der Grond J, Stott D, Ford I, Jukema J, Vernooij M, Hofman A, Uitterlinden A, van der Lugt A, Wittfeld K, Grabe H, Hosten N, von Sarnowski B, Völker U, Levi C, Jimenez-Conde J, Sharma P, Sudlow C, Rosand J, Woo D, Cole J, Meschia J, Slowik A, Thijs V, Lindgren A, Melander O, Grewal R, Rundek T, Rexrode K, Rothwell P, Arnett D, Jern C, Johnson J, Benavente O, Wasssertheil-Smoller S, Lee J, Wong Q, Mitchell B, Rich S, McArdle P, Geerlings M, van der Graaf Y, de Bakker P, Asselbergs F, Srikanth V, Thomson R, McWhirter R, Moran C, Callisaya M, Phan T, Rutten-Jacobs L, Bevan S, Tzourio C, Mather K, Sachdev P, van Duijn C, Worrall B, Dichgans M, Kittner S, Markus H, Ikram M, Fornage M, Launer L, Seshadri S, Longstreth W, Debette S, the International Stroke Genetics Consortium M, Almgren P, Anderson C, Arnett D, Attia J, Ay H, Benavente O, Bevan S, Brown R, Bustamante M, Cheng Y, Cole J, Cotlarciuc I, Cruchaga C, de Bakker P, Delavaran H, Dichgans M, Engström G, Fornage M, Grewal R, Heitsch L, Holliday E, Ibanez L, Ilinca A, Irvin M, Jackson R, Jern C, Jimenez-Conde J, Johnson J, Jood K, Kissela B, Kittner S, Kleindorfer D, Labovitz D, Laurie C, Lee J, Lemmens R, Levi C, Li L, Lindgren A, Maguire J, Markus H, McArdle P, Melander O, Meschia J, Mitchell B, Müller-Nurasyid M, Norrving B, Peddareddygari L, Pera J, Pulit S, Rexrode K, Ribasés M, Roquer J, Rost N, Rothwell P, Rundek T, Sacco R, Schmidt R, Sharma P, Slowik A, Soriano-Tárraga C, Stanne T, Stauch K, Stine O, Sudlow C, Thijs V, Wasssertheil-Smoller S, Weir D, Williams S, Wong Q, Woo D, Worrall B, Xu H, Seshadri S, Hyacinth H, Marini S, Nyquist P, Lewis C, Hansen B, Norrving B, Rosand J, Biffi A, Kourkoulis C, Anderson C, 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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology 2019, 92: 10.1212/wnl.0000000000006851. PMID: 30651383, PMCID: PMC6369905, DOI: 10.1212/wnl.0000000000006851.Peer-Reviewed Original ResearchPopulation-based cohortGenetic risk scoreBrain infarctsLifestyle risk factorsRisk factorsWhite matter hyperintensity burdenLarge population-based cohortPrevious cardiovascular diseaseVascular risk factorsPopulation-based settingBody mass indexSex-adjusted associationsCausal risk factorPopulation-based participantsAdditional large datasetsGenome-wide association studiesIschemic strokeBlood pressureRelated phenotypesHigh BPMass indexBP traitsCardiovascular diseaseRisk scoreGenetic risk loci
2015
Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia
Smith CJ, Saftlas AF, Spracklen CN, Triche EW, Bjonnes A, Keating B, Saxena R, Breheny PJ, Dewan AT, Robinson JG, Hoh J, Ryckman KK. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. American Journal Of Hypertension 2015, 29: 17-24. PMID: 26002928, PMCID: PMC4692983, DOI: 10.1093/ajh/hpv069.Peer-Reviewed Original ResearchConceptsDiastolic blood pressureSystolic blood pressureGenetic risk scoreRisk of preeclampsiaBlood pressureEssential hypertensionRisk scoreNormotensive pregnant controlsHypertensive complicationsArterial pressurePregnant controlsWeeks' gestationPreeclamptic casesHypertensive stateEpidemiological evidenceHypertensionPreeclampsiaUS populationNonsignificant associationGenetic risk lociGenetic susceptibilitySwab samplesBuccal swab samplesGenetic riskRegression analysisSystems Level Analysis of Systemic Sclerosis Shows a Network of Immune and Profibrotic Pathways Connected with Genetic Polymorphisms
Mahoney JM, Taroni J, Martyanov V, Wood TA, Greene CS, Pioli PA, Hinchcliff ME, Whitfield ML. Systems Level Analysis of Systemic Sclerosis Shows a Network of Immune and Profibrotic Pathways Connected with Genetic Polymorphisms. PLOS Computational Biology 2015, 11: e1004005. PMID: 25569146, PMCID: PMC4288710, DOI: 10.1371/journal.pcbi.1004005.Peer-Reviewed Original ResearchConceptsGene-gene interaction networksGenetic risk lociInteraction networksGenome-wide gene expression datasetsRisk lociGene expression modulesSubset-specific genesExtracellular matrix remodelingGene expression datasetsExpression modulesSystemic sclerosisGene expressionGenetic polymorphismsIntrinsic subsetGenesSystem-level analysisExpression datasetsMatrix remodelingPolymorphic genesAntigen geneCell proliferationMultiple clinical cohortsOrgan fibrosisGene expression subsetsLoci
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