Featured Publications
Tuning 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 ResearchSDPRX: 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 ResearchConceptsStatistical methodsJoint distributionWide association study (GWAS) summary statisticsNon-European populationsReal traitsSummary statisticsCross-population predictionPrediction accuracyGenome-wide association study summary statisticsLinkage disequilibrium differencesPrediction performancePolygenic risk scoresComplex traitsStatisticsSimulationsApplicationsTraitsSUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits
Zhang Y, Lu Q, Ye Y, Huang K, Liu W, Wu Y, Zhong X, Li B, Yu Z, Travers BG, Werling DM, Li JJ, Zhao H. SUPERGNOVA: local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits. Genome Biology 2021, 22: 262. PMID: 34493297, PMCID: PMC8422619, DOI: 10.1186/s13059-021-02478-w.Peer-Reviewed Original ResearchConceptsLocal genetic correlationsComplex traitsGenetic correlationsGenomic regionsLocal genetic correlation analysisGenome-wide association studiesLocal genomic regionsSpecific genomic regionsGenetic correlation analysisDistinct genetic signaturesGenetic similarityGenetic signaturesAssociation studiesTraitsSample overlapStatistical frameworkSummary statisticsDisequilibriumRegionAccurate estimationSimilarityA fast and robust Bayesian nonparametric method for prediction of complex traits using summary statistics
Zhou G, Zhao H. A fast and robust Bayesian nonparametric method for prediction of complex traits using summary statistics. PLOS Genetics 2021, 17: e1009697. PMID: 34310601, PMCID: PMC8341714, DOI: 10.1371/journal.pgen.1009697.Peer-Reviewed Original ResearchConceptsBayesian nonparametric methodParameter tuningNonparametric methodsExternal reference panelSummary statisticsComputational resourcesParallel algorithmBlock structureExplicit assumptionsExisting methodsStatisticsSeparate validation dataAccurate risk prediction modelsAssumptionPrediction modelPredictionAlgorithm
2023
Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning
Tao L, Ye Y, Zhao H. Early breast cancer risk detection: a novel framework leveraging polygenic risk scores and machine learning. Journal Of Medical Genetics 2023, 60: 960-964. PMID: 37055164, DOI: 10.1136/jmg-2022-108582.Peer-Reviewed Original ResearchMeSH KeywordsArtificial IntelligenceBreast NeoplasmsFemaleGenetic Predisposition to DiseaseHumansMachine LearningRisk FactorsConceptsBreast cancerPolygenic risk scoresRisk scoreBC risk assessmentClinical breast examNon-genetic risk factorsHigh-risk individualsFemale participantsBreast examCancer deathCommon cancerBC screeningRisk factorsBC diagnosisDisease risk predictionDiagnostic stepsPopulation screeningGenetic riskRisk predictionUK BiobankCancerDiagnosisDiagnostic pipelineWomenDetection testOTTERS: a powerful TWAS framework leveraging summary-level reference data
Dai Q, Zhou G, Zhao H, Võsa U, Franke L, Battle A, Teumer A, Lehtimäki T, Raitakari O, Esko T, Epstein M, Yang J. OTTERS: a powerful TWAS framework leveraging summary-level reference data. Nature Communications 2023, 14: 1271. PMID: 36882394, PMCID: PMC9992663, DOI: 10.1038/s41467-023-36862-w.Peer-Reviewed Original Research
2022
Fibromuscular 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 ResearchSex-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 ResearchConceptsCognitive functionFluid intelligenceCognitive traitsAdolescent Brain Cognitive Development (ABCD) studyPsychiatric disordersCognitive Development StudyMediation effectMost psychiatric disordersPolygenic risk scoresBrain functionBrain structuresBrain imagingEarly etiologySex differencesDevelopment studiesPsychiatric traitsChildrenIntelligenceDisordersSchizophreniaGenetic riskAdultsTraitsCognitionAutismGlaucoma 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 ResearchConceptsPrimary 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
2021
Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
Mullins N, Kang J, Campos AI, Coleman JRI, Edwards AC, Galfalvy H, Levey DF, Lori A, Shabalin A, Starnawska A, Su MH, Watson HJ, Adams M, Awasthi S, Gandal M, Hafferty JD, Hishimoto A, Kim M, Okazaki S, Otsuka I, Ripke S, Ware EB, Bergen AW, Berrettini WH, Bohus M, Brandt H, Chang X, Chen WJ, Chen HC, Crawford S, Crow S, DiBlasi E, Duriez P, Fernández-Aranda F, Fichter MM, Gallinger S, Glatt SJ, Gorwood P, Guo Y, Hakonarson H, Halmi KA, Hwu HG, Jain S, Jamain S, Jiménez-Murcia S, Johnson C, Kaplan AS, Kaye WH, Keel PK, Kennedy JL, Klump KL, Li D, Liao SC, Lieb K, Lilenfeld L, Liu CM, Magistretti PJ, Marshall CR, Mitchell JE, Monson ET, Myers RM, Pinto D, Powers A, Ramoz N, Roepke S, Rozanov V, Scherer SW, Schmahl C, Sokolowski M, Strober M, Thornton LM, Treasure J, Tsuang MT, Witt SH, Woodside DB, Yilmaz Z, Zillich L, Adolfsson R, Agartz I, Air TM, Alda M, Alfredsson L, Andreassen OA, Anjorin A, Appadurai V, Artigas M, Van der Auwera S, Azevedo MH, Bass N, Bau CHD, Baune BT, Bellivier F, Berger K, Biernacka JM, Bigdeli TB, Binder EB, Boehnke M, Boks MP, Bosch R, Braff DL, Bryant R, Budde M, Byrne EM, Cahn W, Casas M, Castelao E, Cervilla JA, Chaumette B, Cichon S, Corvin A, Craddock N, Craig D, Degenhardt F, Djurovic S, Edenberg HJ, Fanous AH, Foo JC, Forstner AJ, Frye M, Fullerton JM, Gatt JM, Gejman PV, Giegling I, Grabe HJ, Green MJ, Grevet EH, Grigoroiu-Serbanescu M, Gutierrez B, Guzman-Parra J, Hamilton SP, Hamshere ML, Hartmann A, Hauser J, Heilmann-Heimbach S, Hoffmann P, Ising M, Jones I, Jones LA, Jonsson L, Kahn RS, Kelsoe JR, Kendler KS, Kloiber S, Koenen KC, Kogevinas M, Konte B, Krebs MO, Landén M, Lawrence J, Leboyer M, Lee PH, Levinson DF, Liao C, Lissowska J, Lucae S, Mayoral F, McElroy SL, McGrath P, McGuffin P, McQuillin A, Medland SE, Mehta D, Melle I, Milaneschi Y, Mitchell PB, Molina E, Morken G, Mortensen PB, Müller-Myhsok B, Nievergelt C, Nimgaonkar V, Nöthen MM, O’Donovan M, Ophoff RA, Owen MJ, Pato C, Pato MT, Penninx BWJH, Pimm J, Pistis G, Potash JB, Power RA, Preisig M, Quested D, Ramos-Quiroga JA, Reif A, Ribasés M, Richarte V, Rietschel M, Rivera M, Roberts A, Roberts G, Rouleau GA, Rovaris DL, Rujescu D, Sánchez-Mora C, Sanders AR, Schofield PR, Schulze TG, Scott LJ, Serretti A, Shi J, Shyn SI, Sirignano L, Sklar P, Smeland OB, Smoller JW, Sonuga-Barke EJS, Spalletta G, Strauss JS, Świątkowska B, Trzaskowski M, Turecki G, Vilar-Ribó L, Vincent JB, Völzke H, Walters JTR, Weickert C, Weickert TW, Weissman MM, Williams LM, Wray NR, Zai CC, Ashley-Koch AE, Beckham JC, Hauser ER, Hauser MA, Kimbrel NA, Lindquist JH, McMahon B, Oslin DW, Qin X, Agerbo E, Børglum A, Breen G, Erlangsen A, Esko T, Gelernter J, Hougaard D, Kessler R, Kranzler H, Li Y, Martin N, McIntosh A, Mors O, Nordentoft M, Olsen C, Porteous D, Ursano R, Wasserman D, Werge T, Whiteman D, Bulik C, Coon H, Demontis D, Docherty A, Kuo P, Lewis G, Mann J, Rentería M, Smith D, Stahl E, Stein D, Streit F, Willour V, Ruderfer D, Wray N, Ripke S, Mattheisen M, Trzaskowski M, Byrne E, Abdellaoui A, Adams M, Agerbo E, Air T, Andlauer T, Bacanu S, Bækvad-Hansen M, Beekman A, Bigdeli T, Binder E, Bryois J, Buttenschøn H, Bybjerg-Grauholm J, Cai N, Castelao E, Christensen J, Clarke T, Coleman J, Colodro-Conde L, Couvy-Duchesne B, Craddock N, Crawford G, Davies G, Degenhardt F, Derks E, Direk N, Dolan C, Dunn E, Eley T, Escott-Price V, Kiadeh F, Finucane H, Foo J, Forstner A, Frank J, Gaspar H, Gill M, Goes F, Gordon S, Weinsheimer S, Wellmann J, Willemsen G, Witt S, Wu Y, Xi H, Yang J, Zhang F, Arolt V, Baune B, Berger K, Boomsma D, Cichon S, Dannlowski U, de Geus E, Depaulo J, Domenici E, Domschke K, Esko T, Grabe H, Hamilton S, Grove J, Hall L, Hansen C, Hansen T, Herms S, Hickie I, Hoffmann P, Homuth G, Horn C, Hottenga J, Hougaard D, Howard D, Ising M, Jansen R, Jones I, Jones L, Jorgenson E, Knowles J, Kohane I, Kraft J, Kretzschmar W, Kutalik Z, Li Q, Lind P, MacIntyre D, MacKinnon D, Maier R, Maier W, Marchini J, Mbarek H, McGrath P, McGuffin P, Medland S, Mehta D, Middeldorp C, Mihailov E, Milaneschi Y, Milani L, Mondimore F, Montgomery G, Mostafavi S, Mullins N, Nauck M, Ng B, Nivard M, Nyholt D, O’Reilly P, Oskarsson H, Hayward C, Heath A, Kendler K, Kloiber S, Lewis C, Li D, Lucae S, Madden P, Magnusson P, Martin N, McIntosh A, Metspalu A, Mors O, Mortensen P, Müller-Myhsok B, Nordentoft M, Nöthen M, O’Donovan M, Paciga S, Pedersen N, Owen M, Painter J, Pedersen C, Pedersen M, Peterson R, Peyrot W, Pistis G, Posthuma D, Quiroz J, Qvist P, Rice J, Riley B, Rivera M, Mirza S, Schoevers R, Schulte E, Shen L, Shi J, Shyn S, Sigurdsson E, Sinnamon G, Smit J, Smith D, Stefansson H, Steinberg S, Streit F, Strohmaier J, Tansey K, Teismann H, Teumer A, Thompson W, Thomson P, Thorgeirsson T, Traylor M, Treutlein J, Trubetskoy V, Uitterlinden A, Umbricht D, Van der Auwera S, van Hemert A, Viktorin A, Visscher P, Wang Y, Webb B, Penninx B, Perlis R, Porteous D, Potash J, Preisig M, Rietschel M, Schaefer C, Schulze T, Smoller J, Stefansson K, Tiemeier H, Uher R, Völzke H, Weissman M, Werge T, Lewis C, Levinson D, Breen G, Børglum A, Sullivan P, Mullins N, Forstner A, O’Connell K, Coombes B, Coleman J, Qiao Z, Als T, Bigdeli T, Børte S, Bryois J, Charney A, Drange O, Gandal M, Hagenaars S, Ikeda M, Kamitaki N, Kim M, Krebs K, Panagiotaropoulou G, Schilder B, Sloofman L, Steinberg S, Trubetskoy V, Winsvold B, Won H, Abramova L, Adorjan K, Agerbo E, Al Eissa M, Albani D, Alliey-Rodriguez N, Anjorin A, Antilla V, Antoniou A, Awasthi S, Baek J, Bækvad-Hansen M, Bass N, Bauer M, Beins E, Bergen S, Birner A, Pedersen C, Bøen E, Boks M, Bosch R, Brum M, Brumpton B, Brunkhorst-Kanaan N, Budde M, Bybjerg-Grauholm J, Byerley W, Cairns M, Casas M, Cervantes P, Clarke T, Cruceanu C, Cuellar-Barboza A, Cunningham J, Curtis D, Czerski P, Dale A, Dalkner N, David F, Degenhardt F, Djurovic S, Dobbyn A, Douzenis A, Elvsåshagen T, Escott-Price V, Ferrier I, Fiorentino A, Foroud T, Forty L, Frank J, Frei O, Freimer N, Frisén L, Gade K, Garnham J, Gelernter J, Pedersen M, Gizer I, Gordon S, Gordon-Smith K, Greenwood T, Grove J, Guzman-Parra J, Ha K, Haraldsson M, Hautzinger M, Heilbronner U, Hellgren D, Herms S, Hoffmann P, Holmans P, Huckins L, Jamain S, Johnson J, Kalman J, Kamatani Y, Kennedy J, Kittel-Schneider S, Knowles J, Kogevinas M, Koromina M, Kranz T, Kranzler H, Kubo M, Kupka R, Kushner S, Lavebratt C, Lawrence J, Leber M, Lee H, Lee P, Levy S, Lewis C, Liao C, Lucae S, Lundberg M, MacIntyre D, Magnusson S, Maier W, Maihofer A, Malaspina D, Maratou E, Martinsson L, Mattheisen M, McGregor N, McGuffin P, McKay J, Medeiros H, Medland S, Millischer V, Montgomery G, Moran J, Morris D, Mühleisen T, O’Brien N, O’Donovan C, Loohuis L, Oruc L, Papiol S, Pardiñas A, Perry A, Pfennig A, Porichi E, Potash J, Quested D, Raj T, Rapaport M, DePaulo J, Regeer E, Rice J, Rivas F, Rivera M, Roth J, Roussos P, Ruderfer D, Sánchez-Mora C, Schulte E, Senner F, Sharp S, Shilling P, Sigurdsson E, Sirignano L, Slaney C, Smeland O, Smith D, Sobell J, Hansen C, Artigas M, Spijker A, Stein M, Strauss J, Świątkowska B, Terao C, Thorgeirsson T, Toma C, Tooney P, Tsermpini E, Vawter P, Vedder H, Walters J, Witt S, Xi S, Xu W, Yang J, Young A, Young H, Zandi P, Zhou H, Zillich L, Psychiatry H, Adolfsson R, Agartz I, Alda M, Alfredsson L, Babadjanova G, Backlund L, Baune B, Bellivier F, Bengesser S, Berrettini W, Blackwood D, Boehnke M, Børglum A, Breen G, Carr V, Catts S, Corvin A, Craddock N, Dannlowski U, Dikeos D, Esko T, Etain B, Ferentinos P, Frye M, Fullerton J, Gawlik M, Gershon E, Goes F, Green M, Grigoroiu-Serbanescu M, Hauser J, Henskens F, Hillert J, Hong K, Hougaard D, Hultman C, Hveem K, Iwata N, Jablensky A, Jones I, Jones L, Kahn R, Kelsoe J, Kirov G, Landén M, Leboyer M, Lewis C, Li Q, Lissowska J, Lochner C, Loughland C, Martin N, Mathews C, Mayoral F, McElroy S, McIntosh A, McMahon F, Melle I, Michie P, Milani L, Mitchell P, Morken G, Mors O, Mortensen P, Mowry B, Müller-Myhsok B, Myers R, Neale B, Nievergelt C, Nordentoft M, Nöthen M, O’Donovan M, Oedegaard K, Olsson T, Owen M, Paciga S, Pantelis C, Pato C, Pato M, Patrinos G, Perlis R, Posthuma D, Ramos-Quiroga J, Reif A, Reininghaus E, Ribasés M, Rietschel M, Ripke S, Rouleau G, Saito T, Schall U, Schalling M, Schofield P, Schulze T, Scott L, Scott R, Serretti A, Weickert C, Smoller J, Stefansson H, Stefansson K, Stordal E, Streit F, Sullivan P, Turecki G, Vaaler A, Vieta E, Vincent J, Waldman I, Weickert T, Werge T, Wray N, Zwart J, Biernacka J, Nurnberger J, Cichon S, Edenberg H, Stahl E, McQuillin A, Di Florio A, Ophoff R, Andreassen O, Adan R, Alfredsson L, Ando T, Andreassen O, Aschauer H, Baker J, Bencko V, Bergen A, Berrettini W, Birgegård A, Boden J, Boehm I, Boni C, Perica V, Brandt H, Breen G, Bryois J, Buehren K, Bulik C, Burghardt R, Carlberg L, Cassina M, Cichon S, Clementi M, Coleman J, Cone R, Courtet P, Crawford S, Crow S, Crowley J, Danner U, Davis O, de Zwaan M, Dedoussis G, Degortes D, DeSocio J, Dick D, Dikeos D, Dina C, Dmitrzak-Weglarz M, Martinez E, Duncan L, Egberts K, Marshall C, Martin N, Mattheisen M, Mattingsdal M, McDevitt S, McGuffin P, Medland S, Metspalu A, Meulenbelt I, Micali N, Mitchell J, Mitchell K, Monteleone P, Monteleone A, Montgomery G, Mortensen P, Munn-Chernoff M, Nacmias B, Navratilova M, Ntalla I, Olsen M, Ophoff R, O’Toole J, Padyukov L, Palotie A, Pantel J, Papezova H, Parker R, Pearson J, Pedersen N, Ehrlich S, Escaramís G, Esko T, Espeseth T, Estivill X, Farmer A, Favaro A, Fernández-Aranda F, Fichter M, Fischer K, Floyd J, Föcker M, Foretova L, Forstner A, Forzan M, Franklin C, Gallinger S, Gambaro G, Gaspar H, Giegling I, Giuranna J, Giusti-Rodríquez P, Gonidakis F, Gordon S, Gorwood P, Mayora M, Grove J, Guillaume S, Guo Y, Hakonarson H, Halmi K, Hanscombe K, Hatzikotoulas K, Hauser E, Hebebrand J, Helder S, Henders A, Herms S, Herpertz-Dahlmann B, Herzog W, Hinney A, Horwood L, Hübel C, Petersen L, Pinto D, Purves K, Raevuori A, Ramoz N, Reichborn-Kjennerud T, Ricca V, Ripatti S, Ripke S, Ritschel F, Roberts M, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer S, Schmidt U, Schork N, Schosser A, Seitz J, Slachtova L, Slagboom P, Landt M, Slopien A, Soranzo N, Sorbi S, Southam L, Steen V, Strober M, Huckins L, Hudson J, Imgart H, Inoko H, Janout V, Jiménez-Murcia S, Johnson C, Jordan J, Julià A, Kalsi G, Kaminská D, Kaplan A, Kaprio J, Karhunen L, Karwautz A, Kas M, Kaye W, Kennedy M, Kennedy M, Keski-Rahkonen A, Kiezebrink K, Kim Y, Kirk K, Klareskog L, Klump K, Knudsen G, Landén M, Larsen J, Le Hellard S, Leppä V, Li D, Lichtenstein P, Lilenfeld L, Lin B, Lissowska J, Lundervold A, Luykx J, Magistretti P, Maj M, Mannik K, Marsal S, Stuber G, Sullivan P, Świątkowska B, Szatkiewicz J, Tachmazidou I, Tenconi E, Thornton L, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz-Nwafor M, Tziouvas K, van Elburg A, van Furth E, Wade T, Wagner G, Walton E, Watson H, Werge T, Whiteman D, Wichmann H, Widen E, Woodside D, Yao S, Yilmaz Z, Zeggini E, Zerwas S, Zipfel S, Witt S, Streit F, Jungkunz M, Frank J, Awasthi S, Treutlein J, Dietl L, Schwarze C, Dahmen N, Schott B, Nöthen M, Ripke S, Mobascher A, Rujescu D, Lieb K, Roepke S, Schmahl C, Bohus M, Rietschel M, Crivelli S, Dennis M, Harvey P, Carter B, Huffman J, Jacobson D, Madduri R, Olsen C, Pestian J, Gaziano J, Muralidhar S, Ramoni R, Beckham J, Chang K, O’Donnell C, Tsao P, Breeling J, Huang G, Romero 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, O’Donnell C, O’Donnell C, Pyarajan S, Tsao P, Cho K, Pyarajan S, Hauser E, Sun Y, Zhao H, Wilson P, McArdle R, Dellitalia L, Mattocks K, Harley J, Zablocki C, Whittle J, Jacono F, Beckham 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. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors. Biological Psychiatry 2021, 91: 313-327. PMID: 34861974, PMCID: PMC8851871, DOI: 10.1016/j.biopsych.2021.05.029.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesGenetic architecturePsychiatric disordersGenetic correlationsRisk factorsGenome-wide significanceDivergent genetic architecturesGWAS summary statisticsShared genetic architectureStrong genetic correlationIntergenic lociSuicide attemptsReproductive traitsKnown Risk FactorsRisk lociPoor general healthChromosome 7Association studiesRelated psychiatric disordersMillion Veteran ProgramSuicide attempt casesLow socioeconomic statusLociNonfatal suicide attemptsGenetic effectsHematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert B, Reilly M, Ganna A, Machiela M, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nature Medicine 2021, 27: 1012-1024. PMID: 34099924, PMCID: PMC8245201, DOI: 10.1038/s41591-021-01371-0.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAgingBiological Specimen BanksChromosome AberrationsCommunicable DiseasesDigestive System DiseasesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHematologic NeoplasmsHumansMaleMiddle AgedMosaicismPneumoniaRisk FactorsSepsisUrogenital AbnormalitiesYoung AdultConceptsMosaic chromosomal alterationsLeukocyte cell countDominant risk factorChromosomal alterationsBlood-derived DNAInfectious disease riskIncident infectionsSystem infectionGenitourinary infectionsImmune cellsRisk factorsHematological malignanciesHematological cancersCell countDisease riskInfectionInfectious diseasesClonal hematopoiesisSomatic variantsAgeRiskAlterationsWide association studyAutosomal mosaic chromosomal alterationsAssociation studiesInteractions Between Enhanced Polygenic Risk Scores and Lifestyle for Cardiovascular Disease, Diabetes, and Lipid Levels
Ye Y, Chen X, Han J, Jiang W, Natarajan P, Zhao H. Interactions Between Enhanced Polygenic Risk Scores and Lifestyle for Cardiovascular Disease, Diabetes, and Lipid Levels. Circulation Genomic And Precision Medicine 2021, 14: e003128. PMID: 33433237, PMCID: PMC7887077, DOI: 10.1161/circgen.120.003128.Peer-Reviewed Original ResearchConceptsType 2 diabetesAbsolute risk reductionPolygenic risk scoresLifestyle adherenceCardiovascular diseaseGenetic riskRisk scoreCoronary artery diseaseBody mass indexGreater absolute benefitHigher polygenic risk scoreHigh genetic riskAdditive interactionRisk reductionArtery diseaseLDL cholesterolTotal cholesterolAtrial fibrillationMass indexAbsolute benefitTriglyceride levelsRisk factorsLipid levelsPhysical activityLifestyle status
2020
Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies
Munn‐Chernoff M, Johnson EC, Chou Y, Coleman JRI, Thornton LM, Walters RK, Yilmaz Z, Baker JH, Hübel C, Gordon S, Medland SE, Watson HJ, Gaspar HA, Bryois J, Hinney A, Leppä VM, Mattheisen M, Ripke S, Yao S, Giusti‐Rodríguez P, Hanscombe KB, Adan RAH, Alfredsson L, Ando T, Andreassen OA, Berrettini WH, Boehm I, Boni C, Perica V, Buehren K, Burghardt R, Cassina M, Cichon S, Clementi M, Cone RD, Courtet P, Crow S, Crowley JJ, Danner UN, Davis OSP, de Zwaan M, Dedoussis G, Degortes D, DeSocio JE, Dick DM, Dikeos D, Dina C, Dmitrzak‐Weglarz M, Docampo E, Duncan LE, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Farmer A, Favaro A, Fernández‐Aranda F, Fichter MM, Fischer K, Föcker M, Foretova L, Forstner AJ, Forzan M, Franklin CS, Gallinger S, Giegling I, Giuranna J, Gonidakis F, Gorwood P, Mayora M, Guillaume S, Guo Y, Hakonarson H, Hatzikotoulas K, Hauser J, Hebebrand J, Helder SG, Herms S, Herpertz‐Dahlmann B, Herzog W, Huckins LM, Hudson JI, Imgart H, Inoko H, Janout V, Jiménez‐Murcia S, Julià A, Kalsi G, Kaminská D, Karhunen L, Karwautz A, Kas MJH, Kennedy JL, Keski‐Rahkonen A, Kiezebrink K, Kim Y, Klump KL, Knudsen GPS, La Via MC, Le Hellard S, Levitan RD, Li D, Lilenfeld L, Lin BD, Lissowska J, Luykx J, Magistretti PJ, Maj M, Mannik K, Marsal S, Marshall CR, Mattingsdal M, McDevitt S, McGuffin P, Metspalu A, Meulenbelt I, Micali N, Mitchell K, Monteleone AM, Monteleone P, Nacmias B, Navratilova M, Ntalla I, O'Toole JK, Ophoff RA, Padyukov L, Palotie A, Pantel J, Papezova H, Pinto D, Rabionet R, Raevuori A, Ramoz N, Reichborn‐Kjennerud T, Ricca V, Ripatti S, Ritschel F, Roberts M, Rotondo A, Rujescu D, Rybakowski F, Santonastaso P, Scherag A, Scherer SW, Schmidt U, Schork NJ, Schosser A, Seitz J, Slachtova L, Slagboom PE, Landt M, Slopien A, Sorbi S, Świątkowska B, Szatkiewicz JP, Tachmazidou I, Tenconi E, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tyszkiewicz‐Nwafor M, Tziouvas K, van Elburg A, van Furth E, Wagner G, Walton E, Widen E, Zeggini E, Zerwas S, Zipfel S, Bergen AW, Boden JM, Brandt H, Crawford S, Halmi KA, Horwood LJ, Johnson C, Kaplan AS, Kaye WH, Mitchell J, Olsen CM, Pearson JF, Pedersen NL, Strober M, Werge T, Whiteman DC, Woodside DB, Grove J, Henders AK, Larsen JT, Parker R, Petersen LV, Jordan J, Kennedy MA, Birgegård A, Lichtenstein P, Norring C, Landén M, Mortensen PB, Polimanti R, McClintick JN, Adkins AE, Aliev F, Bacanu S, Batzler A, Bertelsen S, Biernacka JM, Bigdeli TB, Chen L, Clarke T, Degenhardt F, Docherty AR, Edwards AC, Foo JC, Fox L, Frank J, Hack LM, Hartmann AM, Hartz SM, Heilmann‐Heimbach S, Hodgkinson C, Hoffmann P, Hottenga J, Konte B, Lahti J, Lahti‐Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher BS, Mbarek H, McIntosh AM, McQueen MB, Meyers JL, Milaneschi Y, Palviainen T, Peterson RE, Ryu E, Saccone NL, Salvatore JE, Sanchez‐Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang J, Webb BT, Wedow R, Wetherill L, Wills AG, Zhou H, Boardman JD, Chen D, Choi D, Copeland WE, Culverhouse RC, Dahmen N, Degenhardt L, Domingue BW, Frye MA, Gäebel W, Hayward C, Ising M, Keyes M, Kiefer F, Koller G, Kramer J, Kuperman S, Lucae S, Lynskey MT, Maier W, Mann K, Männistö S, Müller‐Myhsok B, Murray AD, Nurnberger JI, Preuss U, Räikkönen K, Reynolds MD, Ridinger M, Scherbaum N, Schuckit MA, Soyka M, Treutlein J, Witt SH, Wodarz N, Zill P, Adkins DE, Boomsma DI, Bierut LJ, Brown SA, Bucholz KK, Costello EJ, de Wit H, Diazgranados N, Eriksson JG, Farrer LA, Foroud TM, Gillespie NA, Goate AM, Goldman D, Grucza RA, Hancock DB, Harris KM, Hesselbrock V, Hewitt JK, Hopfer CJ, Iacono WG, Johnson EO, Karpyak VM, Kendler KS, Kranzler HR, Krauter K, Lind PA, McGue M, MacKillop J, Madden PAF, Maes HH, Magnusson PKE, Nelson EC, Nöthen MM, Palmer AA, Penninx BWJH, Porjesz B, Rice JP, Rietschel M, Riley BP, Rose RJ, Shen P, Silberg J, Stallings MC, Tarter RE, Vanyukov MM, Vrieze S, Wall TL, Whitfield JB, Zhao H, Neale BM, Wade TD, Heath AC, Montgomery GW, Martin NG, Sullivan PF, Kaprio J, Breen G, Gelernter J, Edenberg HJ, Bulik CM, Agrawal A. Shared genetic risk between eating disorder‐ and substance‐use‐related phenotypes: Evidence from genome‐wide association studies. Addiction Biology 2020, 26: e12880. PMID: 32064741, PMCID: PMC7429266, DOI: 10.1111/adb.12880.Peer-Reviewed Original Research
2018
Translational studies support a role for serotonin 2B receptor (HTR2B) gene in aggression-related cannabis response
Montalvo-Ortiz JL, Zhou H, D’Andrea I, Maroteaux L, Lori A, Smith A, Ressler KJ, Nuñez YZ, Farrer LA, Zhao H, Kranzler HR, Gelernter J. Translational studies support a role for serotonin 2B receptor (HTR2B) gene in aggression-related cannabis response. Molecular Psychiatry 2018, 23: 2277-2286. PMID: 29875475, PMCID: PMC6281782, DOI: 10.1038/s41380-018-0077-6.Peer-Reviewed Original ResearchConceptsGrady Trauma ProjectAfrican AmericansWild-type miceReceptor geneEffects of cannabisWide significant risk lociResident-intruder paradigmImpulsivity/aggressionConcordant findingsTHC administrationKnockout miceTranslational studiesAA subjectsCannabis useStudy designTrauma ProjectAdverse effectsMiceCannabisAggressive behaviorEuropean AmericansNominal associationAdverse consequencesGenome-wide association study (GWAS) designRisk loci
2017
Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction
Hu Y, Lu Q, Liu W, Zhang Y, Li M, Zhao H. Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction. PLOS Genetics 2017, 13: e1006836. PMID: 28598966, PMCID: PMC5482506, DOI: 10.1371/journal.pgen.1006836.Peer-Reviewed Original Research