2024
LDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information
Dong Z, Jiang W, Li H, DeWan A, Zhao H. LDER-GE estimates phenotypic variance component of gene–environment interactions in human complex traits accurately with GE interaction summary statistics and full LD information. Briefings In Bioinformatics 2024, 25: bbae335. PMID: 38980374, PMCID: PMC11232466, DOI: 10.1093/bib/bbae335.Peer-Reviewed Original ResearchMeSH KeywordsGene-Environment InteractionGenome-Wide Association StudyHumansLinkage DisequilibriumModels, GeneticMultifactorial InheritancePhenotypePolymorphism, Single NucleotideConceptsHuman complex traitsComplex traitsGene-environment interactionsGene-environmentLinkage disequilibriumPhenotypic variance componentsPhenotypic varianceProportion of phenotypic varianceSummary statisticsEuropean ancestry subjectsUK Biobank dataAssociation summary statisticsComplete linkage disequilibriumControlled type I error ratesLD informationLD matrixVariance componentsBiobank dataType I error rateEuropean ancestrySample size increaseGenetic effectsTraitsE-I pairsSimulation studyIntegration of expression QTLs with fine mapping via SuSiE.
Zhang X, Jiang W, Zhao H. Integration of expression QTLs with fine mapping via SuSiE. PLOS Genetics 2024, 20: e1010929. PMID: 38271473, PMCID: PMC10846745, DOI: 10.1371/journal.pgen.1010929.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingGenome-Wide Association StudyLinkage DisequilibriumPhenotypePolymorphism, Single NucleotideQuantitative Trait LociConceptsExpression quantitative trait lociGenome-wide association studiesFine-mapping methodsLinkage disequilibriumBody mass indexFine-mappingExpression quantitative trait loci informationGenome-wide association study resultsExpression quantitative trait loci analysisPresence of linkage disequilibriumExternal reference panelGenetic fine-mappingQuantitative trait lociPosterior inclusion probabilitiesInclusion probabilitiesAlzheimer's diseaseExpression QTLsLD patternsComplex traitsCandidate variantsAssociation studiesTrait lociAssociation to causationReference panelFunctional variantsPhenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health
Zekavat S, Jorshery S, Rauscher F, Horn K, Sekimitsu S, Koyama S, Nguyen T, Costanzo M, Jang D, Burtt N, Kühnapfel A, Shweikh Y, Ye Y, Raghu V, Zhao H, Ghassemi M, Elze T, Segrè A, Wiggs J, Del Priore L, Scholz M, Wang J, Natarajan P, Zebardast N. Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health. Science Translational Medicine 2024, 16: eadg4517. PMID: 38266105, DOI: 10.1126/scitranslmed.adg4517.Peer-Reviewed Original ResearchMeSH KeywordsAdultCardiovascular DiseasesFaceGenome-Wide Association StudyHumansRetinaTomography, Optical CoherenceConceptsGenome-wide association studiesRetinal layer thicknessPhotoreceptor segmentsOptical coherence tomographyRetinal layersUK Biobank participantsLIFE-Adult-StudyInherited genetic lociGenome-wide associationGanglion cell complex layerRetinal optical coherence tomography imagesRetinal nerve fiber layerAge-related macular degenerationBiobank participantsEye careNerve fiber layerOptical coherence tomography imagesIncident mortalityMacular OCT imagesLIFE-AdultIndependent associationsAssociation studiesSystemic healthGenetic associationGenome-wide analysisTuning parameters for polygenic risk score methods using GWAS summary statistics from training data
Jiang W, Chen L, Girgenti M, Zhao H. Tuning parameters for polygenic risk score methods using GWAS summary statistics from training data. Nature Communications 2024, 15: 24. PMID: 38169469, PMCID: PMC10762162, DOI: 10.1038/s41467-023-44009-0.Peer-Reviewed Original Research
2023
Benchmarking of local genetic correlation estimation methods using summary statistics from genome-wide association studies
Zhang C, Zhang Y, Zhang Y, Zhao H. Benchmarking of local genetic correlation estimation methods using summary statistics from genome-wide association studies. Briefings In Bioinformatics 2023, 24: bbad407. PMID: 37974509, PMCID: PMC10654488, DOI: 10.1093/bib/bbad407.Peer-Reviewed Original ResearchBenchmarkingComputer SimulationGenome-Wide Association StudyLinkage DisequilibriumPhenotypePolymorphism, Single NucleotideA statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases
Liu W, Deng W, Chen M, Dong Z, Zhu B, Yu Z, Tang D, Sauler M, Lin C, Wain L, Cho M, Kaminski N, Zhao H. A statistical framework to identify cell types whose genetically regulated proportions are associated with complex diseases. PLOS Genetics 2023, 19: e1010825. PMID: 37523391, PMCID: PMC10414598, DOI: 10.1371/journal.pgen.1010825.Peer-Reviewed Original ResearchMeSH KeywordsBreast NeoplasmsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansLungPolymorphism, Single NucleotidePulmonary Disease, Chronic ObstructiveConceptsCell typesDisease-associated tissuesWide association studyComplex diseasesCell type proportionsDisease-relevant tissuesReal GWAS dataFunctional genesTranscriptomic dataGWAS dataGenetic dataAssociation studiesNovel statistical frameworkChronic obstructive pulmonary diseaseStatistical frameworkObstructive pulmonary diseaseIdiopathic pulmonary fibrosisBreast cancer riskType proportionsBlood CD8Pulmonary diseasePulmonary fibrosisPredictive biomarkersLung tissueBreast cancereQTL studies: from bulk tissues to single cells
Zhang J, Zhao H. eQTL studies: from bulk tissues to single cells. Journal Of Genetics And Genomics 2023, 50: 925-933. PMID: 37207929, PMCID: PMC10656365, DOI: 10.1016/j.jgg.2023.05.003.Peer-Reviewed Original ResearchMeSH KeywordsGene Expression RegulationGenome-Wide Association StudyPolymorphism, Single NucleotideQuantitative Trait LociConceptsExpression quantitative trait lociBulk tissueIdentification of eQTLContext-dependent gene regulationCell typesQuantitative trait lociMost eQTL studiesSingle cellsComplex traitsGene regulationEQTL studiesFunctional genesTrait lociSpecific genesChromosomal regionsDynamic regulationGene expressionBiological processesDifferent tissuesGenetic variantsExpression levelsDisease mechanismsGenesRegulationRecent studiesMulti-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program
Cheng Y, Dao C, Zhou H, Li B, Kember R, Toikumo S, Zhao H, Gelernter J, Kranzler H, Justice A, Xu K. Multi-trait genome-wide association analyses leveraging alcohol use disorder findings identify novel loci for smoking behaviors in the Million Veteran Program. Translational Psychiatry 2023, 13: 148. PMID: 37147289, PMCID: PMC10162964, DOI: 10.1038/s41398-023-02409-2.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DrinkingAlcoholismGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideSmokingVeteransConceptsSingle-trait genome-wide association studiesGenome-wide association studiesNovel lociPower of GWASJoint genome-wide association studyGenome-wide significant lociMillion Veteran ProgramGenome-wide associationSubstance use traitsGWAS summary statisticsNovel genetic variantsMulti-trait analysisFunctional annotationUse traitsSignificant lociHeritable traitMultiple lociAssociation studiesColocalization analysisLociPleiotropic effectsMTAgVeteran ProgramGenetic variantsTraitsA genome-wide association study of frailty identifies significant genetic correlation with neuropsychiatric, cardiovascular, and inflammation pathways
Ye Y, Noche R, Szejko N, Both C, Acosta J, Leasure A, Brown S, Sheth K, Gill T, Zhao H, Falcone G. A genome-wide association study of frailty identifies significant genetic correlation with neuropsychiatric, cardiovascular, and inflammation pathways. GeroScience 2023, 45: 2511-2523. PMID: 36928559, PMCID: PMC10651618, DOI: 10.1007/s11357-023-00771-z.Peer-Reviewed Original ResearchConceptsFried frailty scoreBiology of frailtyEuropean descent participantsOccurrence of frailtyGenome-wide association studiesMendelian randomization analysisFrailty scoreChronic painJoint disordersPolygenic risk scoresRespiratory diseaseInflammation pathwaysRisk scoreClinical phenotypeBrain tissueCausal associationFrailtyAge-related pathwaysRandomization analysisGenetic factorsAssociation studiesUK BiobankRetirement StudyPerson's vulnerabilitySignificant genetic correlationsWhole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke
Xie Y, Acosta J, Ye Y, Demarais Z, Conlon C, Chen M, Zhao H, Falcone G. Whole-Exome Sequencing Analyses Support a Role of Vitamin D Metabolism in Ischemic Stroke. Stroke 2023, 54: 800-809. PMID: 36762557, PMCID: PMC10467223, DOI: 10.1161/strokeaha.122.040883.Peer-Reviewed Original ResearchMeSH KeywordsExome SequencingGenetic TestingGenome-Wide Association StudyHumansIschemic StrokePhenotypeConceptsGene-based testingRare genetic variationGene-based analysisGenetic variationAssociation studiesGenome-wide association studiesSingle-variant association analysisWide significance levelSusceptibility risk lociWide association studyDeleterious missense variantsMissense rare variantsBonferroni-corrected thresholdWhole-exome sequencing dataRare variantsSingle variant analysisHeritable traitRisk lociExome-wide studySequencing dataExome sequencing analysisAssociation analysisSequencing analysisMissense variantsTraitsIdentification 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
An unbiased kinship estimation method for genetic data analysis
Jiang W, Zhang X, Li S, Song S, Zhao H. An unbiased kinship estimation method for genetic data analysis. BMC Bioinformatics 2022, 23: 525. PMID: 36474154, PMCID: PMC9727941, DOI: 10.1186/s12859-022-05082-2.Peer-Reviewed Original ResearchConceptsRigorous mathematical proofGenetic data analysisReal data analysisUnbiased estimation methodEstimation methodIndividual-level genotype dataSample correlation coefficientMathematical proofMathematical derivationMean square errorCoefficient estimationMatrix methodEstimation accuracyEstimation biasHeritability estimationRoot mean square errorData analysisSquare errorAccurate estimatesEstimationUKINVariances of genotypesSpurious associationsKinship coefficientsEstimatesSDPRX: A statistical method for cross-population prediction of complex traits
Zhou G, Chen T, Zhao H. SDPRX: A statistical method for cross-population prediction of complex traits. American Journal Of Human Genetics 2022, 110: 13-22. PMID: 36460009, PMCID: PMC9892700, DOI: 10.1016/j.ajhg.2022.11.007.Peer-Reviewed Original ResearchMeSH KeywordsGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMultifactorial InheritanceRisk FactorsConceptsStatistical methodsJoint distributionWide association study (GWAS) summary statisticsNon-European populationsReal traitsSummary statisticsCross-population predictionPrediction accuracyGenome-wide association study summary statisticsLinkage disequilibrium differencesPrediction performancePolygenic risk scoresComplex traitsStatisticsSimulationsApplicationsTraitsFibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture
Katz A, Yang M, Levin M, Tcheandjieu C, Mathis M, Hunker K, Blackburn S, Eliason J, Coleman D, Fendrikova-Mahlay N, Gornik H, Karmakar M, Hill H, Xu C, Zawistowski M, Brummett C, Zoellner S, Zhou X, O’Donnell C, Douglas J, Assimes T, Tsao P, Li J, Damrauer S, Stanley J, Ganesh S, Gaziano J, Muralidhar S, Ramoni R, Beckham J, Chang K, O’Donnell C, Tsao P, Breeling J, Huang G, Casas J, Muralidhar S, Moser J, Whitbourne S, Brewer J, Aslan M, Connor T, Argyres D, Tsao P, Gaziano J, Stephens B, Brophy M, Humphries D, Selva L, Do N, Shayan S, Cho K, Churby L, O’Donnell C, O’Donnell C, Pyarajan S, Tsao P, Cho K, DuVall S, Pyarajan S, Hauser E, Sun Y, Zhao H, Wilson P, McArdle R, Dellitalia L, Mattocks K, Harley J, Whittle J, Jacono F, Beckham J, 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, Aguayo S, Cohen D, Sharma S, 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, Tsao P, Strollo P, Boyko E, Meyer L, Gupta S, Huq M, Fayad J, Hung A, Lichy J, Hurley R, Robey B, Striker R. Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture. Circulation Genomic And Precision Medicine 2022, 15: e003496. PMID: 36374587, PMCID: PMC9772208, DOI: 10.1161/circgen.121.003496.Peer-Reviewed Original ResearchMeSH KeywordsAortic Aneurysm, AbdominalArteriesFemaleFibromuscular DysplasiaGenome-Wide Association StudyHumansMaleRisk FactorsGenome-Wide Investigation of Maximum Habitual Alcohol Intake in US Veterans in Relation to Alcohol Consumption Traits and Alcohol Use Disorder
Deak JD, Levey DF, Wendt FR, Zhou H, Galimberti M, Kranzler HR, Gaziano JM, Stein MB, Polimanti R, Gelernter J, Muralidhar S, Moser J, Deen J, Gaziano J, Beckham J, Chang K, Tsao P, Luoh S, Casas J, Churby L, Whitbourne S, Brewer J, Brophy M, Selva L, Shayan S, Cho K, Pyarajan S, DuVall S, Connor T, Argyres D, Aslan M, Stephens B, Concato J, Gelernter J, Gleason T, Huang G, Koenen K, Marx C, Radhakrishnan K, Schork N, Stein M, Zhao H, Kaufman J, Nunez Y, Pietrzak R, Beck D, Cissell S, Crutchfield P, Lance W, Cheung K, Li Y, Sun N, Chen Q, Rajeevan N, Sayward F, Gagnon D, Harrington K, Quaden R, O'Leary T, Ramoni R. Genome-Wide Investigation of Maximum Habitual Alcohol Intake in US Veterans in Relation to Alcohol Consumption Traits and Alcohol Use Disorder. JAMA Network Open 2022, 5: e2238880. PMID: 36301540, PMCID: PMC9614582, DOI: 10.1001/jamanetworkopen.2022.38880.Peer-Reviewed Original ResearchMeSH KeywordsAgedAlcohol DrinkingAlcoholismFemaleGenome-Wide Association StudyHumansMaleVeteransWhite PeopleConceptsGenome-wide association studiesGenome-wide significant lociGenomic structural equation modelingSignificant lociAlcohol traitsAssociation studiesAfrican ancestry participantsGenome-wide investigationAncestry-specific genome-wide association studiesGenetic correlationsPsychiatric traitsLinkage disequilibrium score regressionGenetic associationStrong genetic correlationSingle nucleotide variantsGenetic architectureGenetic association studiesGenetic lociTop associationsNegative rgEuropean ancestry participantsNucleotide variantsFunctional variantsScore regressionTraitsSex-specific genetic association between psychiatric disorders and cognition, behavior and brain imaging in children and adults
Gui Y, Zhou X, Wang Z, Zhang Y, Wang Z, Zhou G, Zhao Y, Liu M, Lu H, Zhao H. Sex-specific genetic association between psychiatric disorders and cognition, behavior and brain imaging in children and adults. Translational Psychiatry 2022, 12: 347. PMID: 36028495, PMCID: PMC9418275, DOI: 10.1038/s41398-022-02041-6.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildCognitionFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMental DisordersMultifactorial InheritanceNeuroimagingRisk FactorsConceptsCognitive functionFluid intelligenceCognitive traitsAdolescent Brain Cognitive Development (ABCD) studyPsychiatric disordersCognitive Development StudyMediation effectMost psychiatric disordersPolygenic risk scoresBrain functionBrain structuresBrain imagingEarly etiologySex differencesDevelopment studiesPsychiatric traitsChildrenIntelligenceDisordersSchizophreniaGenetic riskAdultsTraitsCognitionAutismThe Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study
Wendt FR, Garcia-Argibay M, Cabrera-Mendoza B, Valdimarsdóttir UA, Gelernter J, Stein MB, Nivard MG, Maihofer AX, Consortium P, Maihofer A, Choi K, Coleman J, Daskalakis N, Denckla C, Ketema E, Morey R, Polimanti R, Ratanatharathorn A, Torres K, Wingo A, Zai C, Aiello A, Almli L, Amstadter A, Andersen S, Andreassen O, Arbisi P, Ashley-Koch A, Austin S, Avdibegovic E, Borglum A, Babic D, Bækvad-Hansen M, Baker D, Beckham J, Bierut L, Bisson J, Boks M, Bolger E, Bradley B, Brashear M, Breen G, Bryant R, Bustamante A, Bybjerg-Grauholm J, Calabrese J, Caldas-de-Almeida J, Chen C, Dale A, Dalvie S, Deckert J, Delahanty D, Dennis M, Disner S, Domschke K, Duncan L, Kulenovic A, Erbes C, Evans A, Farrer L, Feeny N, Flory J, Forbes D, Franz C, Galea S, Garrett M, Gautam A, Gelaye B, Gelernter J, Geuze E, Gillespie C, Uka A, Gordon S, Guffanti G, Hammamieh R, Hauser M, Heath A, Hemmings S, Hougaard D, Jakovljevic M, Jett M, Johnson E, Jones I, Jovanovic T, Qin X, Karstoft K, Kaufman M, Kessler R, Khan A, Kimbrel N, King A, Koen N, Kranzler H, Kremen W, Lawford B, Lebois L, Lewis C, Liberzon I, Linnstaedt S, Logue M, Lori A, Lugonja B, Luykx J, Lyons M, Maples-Keller J, Marmar C, Martin N, Maurer D, Mavissakalian M, McFarlane A, McGlinchey R, McLaughlin K, McLean S, Mehta D, Mellor R, Michopoulos V, Milberg W, Miller M, Morris C, Mors O, Mortensen P, Nelson E, Nordentoft M, Norman S, O’Donnell M, Orcutt H, Panizzon M, Peters E, Peterson A, Peverill M, Pietrzak R, Polusny M, Rice J, Risbrough V, Roberts A, Rothbaum A, Rothbaum B, Roy-Byrne P, Ruggiero K, Rung A, Rutten B, Saccone N, Sanchez S, Schijven D, Seedat S, Seligowski A, Seng J, Sheerin C, Silove D, Smith A, Smoller J, Sponheim S, Stein D, Stevens J, Teicher M, Thompson W, Trapido E, Uddin M, Ursano R, van den Heuvel L, Van Hooff M, Vermetten E, Vinkers C, Voisey J, Wang Y, Wang Z, Werge T, Williams M, Williamson D, Winternitz S, Wolf C, Wolf E, Yehuda R, Young K, Young R, Zhao H, Zoellner L, Haas M, Lasseter H, Provost A, Salem R, Sebat J, Shaffer R, Wu T, Ripke S, Daly M, Ressler K, Koenen K, Stein M, Nievergelt C, Nievergelt C, Larsson H, Mattheisen M, Polimanti R, Meier S. The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study. Biological Psychiatry 2022, 93: 362-369. PMID: 36335070, PMCID: PMC10496427, DOI: 10.1016/j.biopsych.2022.08.012.Peer-Reviewed Original ResearchMendelian randomization for causal inference accounting for pleiotropy and sample structure using genome-wide summary statistics
Hu X, Zhao J, Lin Z, Wang Y, Peng H, Zhao H, Wan X, Yang C. Mendelian randomization for causal inference accounting for pleiotropy and sample structure using genome-wide summary statistics. Proceedings Of The National Academy Of Sciences Of The United States Of America 2022, 119: e2106858119. PMID: 35787050, PMCID: PMC9282238, DOI: 10.1073/pnas.2106858119.Peer-Reviewed Original ResearchMeSH KeywordsCausalityGenetic PleiotropyGenome-Wide Association StudyMendelian Randomization AnalysisPhenotypeReproducibility of ResultsGenetically‐Proxied Levels of Vitamin D and Risk of Intracerebral Hemorrhage
Szejko N, Acosta JN, Both CP, Leasure A, Matouk C, Sansing L, Gill TM, Hongyu Z, Sheth K, Falcone GJ. Genetically‐Proxied Levels of Vitamin D and Risk of Intracerebral Hemorrhage. Journal Of The American Heart Association 2022, 11: e024141. PMID: 35730641, PMCID: PMC9333362, DOI: 10.1161/jaha.121.024141.Peer-Reviewed Original ResearchCausalityCerebral HemorrhageGenome-Wide Association StudyHumansMendelian Randomization AnalysisPolymorphism, Single NucleotideVitamin DVitaminsGlaucoma Genetic Risk Scores in the Million Veteran Program
Waksmunski A, Kinzy T, Cruz L, Nealon C, Halladay C, Simpson P, Canania R, Anthony S, Roncone D, Rogers L, Leber J, Dougherty J, Greenberg P, Sullivan J, Wu W, Iyengar S, Crawford D, Peachey N, Bailey J, Gaziano J, Ramoni R, Breeling J, Chang K, Huang G, Muralidhar S, O’Donnell C, Tsao P, Muralidhar S, Moser J, Whitbourne S, Brewer J, Concato J, Warren S, Argyres D, Tsao P, Stephens B, Brophy M, Humphries D, Do N, Shayan S, Nguyen X, O’Donnell C, Pyarajan S, Cho K, Pyarajan S, Hauser E, Sun Y, Zhao H, Wilson P, McArdle R, Dellitalia L, Harley J, Whittle J, Beckham J, Wells J, Gutierrez S, Gibson G, Kaminsky L, Villareal G, Kinlay S, Xu J, Hamner M, Haddock K, Bhushan S, Iruvanti P, Godschalk M, Ballas Z, Buford M, Mastorides S, Klein J, Ratcliffe N, Florez H, Swann A, Murdoch M, Sriram P, Yeh S, Washburn R, Jhala D, Aguayo S, Cohen D, Sharma S, Callaghan J, Oursler K, Whooley M, Ahuja S, Gutierrez A, Schifman R, Greco J, Rauchman M, Servatius R, Oehlert M, Wallbom A, Fernando R, Morgan T, Stapley T, Sherman S, Anderson G, Tsao P, Sonel E, Boyko E, Meyer L, Gupta S, Fayad J, Hung A, Lichy J, Hurley R, Robey B, Striker R. Glaucoma Genetic Risk Scores in the Million Veteran Program. Ophthalmology 2022, 129: 1263-1274. PMID: 35718050, PMCID: PMC9997524, DOI: 10.1016/j.ophtha.2022.06.012.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCross-Sectional StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyGlaucoma, Open-AngleHumansPolymorphism, Single NucleotideRisk FactorsVeteransConceptsPrimary open-angle glaucomaInvasive glaucoma surgeryRisk stratificationMillion Veteran ProgramEffect estimatesPOAG casesEuropean ancestryOpen-angle glaucomaCross-sectional studyDegenerative eye diseasesAfrican ancestryVeteran ProgramGenetic risk scoreAggressive treatmentGlaucoma surgeryEarly treatmentIrreversible blindnessEye diseaseHigh riskRisk scoreIncremental riskVisual impairmentGenetic riskVeteransRisk variants