2022
Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits
Lencz T, Sabatello M, Docherty A, Peterson R, Soda T, Austin J, Bierut L, Crepaz-Keay D, Curtis D, Degenhardt F, Huckins L, Lazaro-Munoz G, Mattheisen M, Meiser B, Peay H, Rietschel M, Walss-Bass C, Davis L. Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits. The Lancet Psychiatry 2022, 9: 838-844. PMID: 35931093, PMCID: PMC9930635, DOI: 10.1016/s2215-0366(22)00157-2.Peer-Reviewed Original ResearchConceptsRisk of complex diseasesPolygenic risk scoresEthical issuesEthical implicationsPersonal viewEmbryo screeningGenetic riskRisk scorePolygenic embryo screeningPsychiatric geneticsInternational Society of Psychiatric GeneticsComplex diseasesViewsPsychiatric disordersRelevant stakeholdersScreeningIn vitro fertilisationScreen embryosInternational SocietyPersonsPrivate companiesSocietyClinical applicationExploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk study
Xu J, Johnson JS, Signer R, Consortium E, Birgegård A, Jordan J, Kennedy MA, Landén M, Maguire SL, Martin NG, Mortensen PB, Petersen LV, Thornton LM, Bulik CM, Huckins LM. Exploring the clinical and genetic associations of adult weight trajectories using electronic health records in a racially diverse biobank: a phenome-wide and polygenic risk study. The Lancet Digital Health 2022, 4: e604-e614. PMID: 35780037, PMCID: PMC9612590, DOI: 10.1016/s2589-7500(22)00099-1.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiological Specimen BanksBody-Weight TrajectoryElectronic Health RecordsGenome-Wide Association StudyHumansMultifactorial InheritanceConceptsElectronic health recordsPolygenic risk scoresWeight trajectoriesDepression polygenic risk scoresObesity polygenic risk scoresHealth recordsWeight changeUK BiobankIndividual health statusLower disease riskGenetic associationPatient populationUS National InstitutesWeight managementStable weightRisk scoreHealthy populationHealth statusAnorexia nervosaBioMe BiobankDisease riskDisorder diagnosisMental healthWeight lossPhenome-wide association study
2021
Examining Sex-Differentiated Genetic Effects Across Neuropsychiatric and Behavioral Traits
Martin J, Khramtsova E, Goleva S, Blokland G, Traglia M, Walters R, Hübel C, Coleman J, Breen G, Børglum A, Demontis D, Grove J, Werge T, Bralten J, Bulik C, Lee P, Mathews C, Peterson R, Winham S, Wray N, Edenberg H, Guo W, Yao Y, Neale B, Faraone S, Petryshen T, Weiss L, Duncan L, Goldstein J, Smoller J, Stranger B, Davis L, Consortium S, Alda M, Bortolato M, Burton C, Byrne E, Carey C, Erdman L, Huckins L, Mattheisen M, Robinson E, Stahl E. Examining Sex-Differentiated Genetic Effects Across Neuropsychiatric and Behavioral Traits. Biological Psychiatry 2021, 89: 1127-1137. PMID: 33648717, PMCID: PMC8163257, DOI: 10.1016/j.biopsych.2020.12.024.Peer-Reviewed Original ResearchMeSH KeywordsFemaleGenome-Wide Association StudyHumansMaleMultifactorial InheritancePhenotypePolymorphism, Single NucleotideSex CharacteristicsConceptsSex-differential effectsSex differencesGenetic architectureBehavioral traitsSingle nucleotide polymorphism (SNP)-based heritabilityGenetic correlationsGenome-wide association summary statisticsSNP-based heritabilityMultiple gene setsOrigins of sex differencesAssociation summary statisticsIdentified 4 genesGene-based approachRisk-taking behaviorIdentified genesGene setsWell-powered studiesBehavioral phenotypesBiological functionsGenetic contributionBetween-sexGenetic effectsTrait pairsGenetic correlation estimatesNeuron-related
2019
Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems
Zheutlin A, Dennis J, Karlsson Linnér R, Moscati A, Restrepo N, Straub P, Ruderfer D, Castro V, Chen C, Ge T, Huckins L, Charney A, Kirchner H, Stahl E, Chabris C, Davis L, Smoller J. Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems. American Journal Of Psychiatry 2019, 176: 846-855. PMID: 31416338, PMCID: PMC6961974, DOI: 10.1176/appi.ajp.2019.18091085.Peer-Reviewed Original ResearchMeSH KeywordsDelivery of Health CareFemaleGenetic PleiotropyGenetic Predisposition to DiseaseHumansMaleMiddle AgedMultifactorial InheritancePenetranceRisk FactorsSchizophreniaConceptsPolygenic risk scoresHealth care systemCare systemGenetic riskAssociated with schizophreniaPolygenic risk score distributionPhenome-wide association studyMeasures of genetic riskRisk scoreHighest risk decileHealth care settingsElectronic health recordsOdds of schizophreniaAssociated with other phenotypesCare settingsRisk decileHealth recordsHigher oddsHealth consequencesResearch cohortAssociation studiesHealthEarly interventionMeta-analysisPersonality disorderGenetic analyses of diverse populations improves discovery for complex traits
Wojcik G, Graff M, Nishimura K, Tao R, Haessler J, Gignoux C, Highland H, Patel Y, Sorokin E, Avery C, Belbin G, Bien S, Cheng I, Cullina S, Hodonsky C, Hu Y, Huckins L, Jeff J, Justice A, Kocarnik J, Lim U, Lin B, Lu Y, Nelson S, Park S, Poisner H, Preuss M, Richard M, Schurmann C, Setiawan V, Sockell A, Vahi K, Verbanck M, Vishnu A, Walker R, Young K, Zubair N, Acuña-Alonso V, Ambite J, Barnes K, Boerwinkle E, Bottinger E, Bustamante C, Caberto C, Canizales-Quinteros S, Conomos M, Deelman E, Do R, Doheny K, Fernández-Rhodes L, Fornage M, Hailu B, Heiss G, Henn B, Hindorff L, Jackson R, Laurie C, Laurie C, Li Y, Lin D, Moreno-Estrada A, Nadkarni G, Norman P, Pooler L, Reiner A, Romm J, Sabatti C, Sandoval K, Sheng X, Stahl E, Stram D, Thornton T, Wassel C, Wilkens L, Winkler C, Yoneyama S, Buyske S, Haiman C, Kooperberg C, Le Marchand L, Loos R, Matise T, North K, Peters U, Kenny E, Carlson C. Genetic analyses of diverse populations improves discovery for complex traits. Nature 2019, 570: 514-518. PMID: 31217584, PMCID: PMC6785182, DOI: 10.1038/s41586-019-1310-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesComplex traitsBiology of complex traitsDiverse populationsEvidence of effect-size heterogeneityGenome-wide effortsLarge-scale genomic studiesReduce health disparitiesNon-European individualsHighest burden of diseaseMulti-ethnic participantsEffect-size heterogeneityBurden of diseaseRepresentation of diverse populationsGWAS associationsNovel lociRisk prediction scoreAdmixed populationsFine-mappingGenetic architectureAssociation studiesGenomic studiesHealth disparitiesHealthcare disparitiesPopulation ArchitectureAssociations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches
Yao S, Kuja-Halkola R, Martin J, Lu Y, Lichtenstein P, Norring C, Birgegård A, Yilmaz Z, Hübel C, Watson H, Baker J, Almqvist C, Consortium E, Adan R, Ando T, Baker J, Bergen A, Berrettini W, Birgegård A, Boni C, Perica V, Brandt H, Burghardt R, Cassina M, Cesta C, 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, Dmitrzak-Weglarz M, Docampo E, Egberts K, Ehrlich S, Escaramís G, Esko T, Estivill X, Favaro A, Fernández-Aranda F, Fichter M, Finan C, Fischer K, Föcker M, Foretova L, Forzan M, Franklin C, Gaspar H, Gonidakis F, Gorwood P, Gratacos M, Guillaume S, Guo Y, Hakonarson H, Halmi K, Hatzikotoulas K, Hauser J, Hebebrand J, Helder S, Hendriks J, Herpertz-Dahlmann B, Herzog W, Hilliard C, Hinney A, Huckins L, Hudson J, Huemer J, Imgart H, Inoko H, Jiménez-Murcia S, Johnson C, Jordan J, Juréus A, Kalsi G, Kaminska D, Kaplan A, Kaprio J, Karhunen L, Karwautz A, Kas M, Kaye W, Kennedy J, Kennedy M, Keski-Rahkonen A, Kiezebrink K, Kim Y, Klump K, Knudsen G, Koeleman B, Koubek D, La Via M, Landén M, Levitan R, Li D, Lichtenstein P, Lilenfeld L, Lissowska J, Magistretti P, Maj M, Mannik K, Martin N, McDevitt S, McGuffin P, Merl E, Metspalu A, Meulenbelt I, Micali N, Mitchell J, Mitchell K, Monteleone P, Monteleone A, Mortensen P, Munn-Chernoff M, Nacmias B, Nilsson I, Norring C, Ntalla I, O’Toole J, Pantel J, Papezova H, Parker R, Rabionet R, Raevuori A, Rajewski A, Ramoz N, Rayner N, Reichborn-Kjennerud T, Ricca V, Ripke S, Ritschel F, Roberts M, Rotondo A, Rybakowski F, Santonastaso P, Scherag A, Schmidt U, Schork N, Schosser A, Seitz J, Slachtova L, Slagboom P, Landt M, Slopien A, Smith T, Sorbi S, Strengman E, Strober M, Sullivan P, Szatkiewicz J, Szeszenia-Dabrowska N, Tachmazidou I, Tenconi E, Thornton L, Tortorella A, Tozzi F, Treasure J, Tsitsika A, Tziouvas K, van Elburg A, van Furth E, Wade T, Wagner G, Walton E, Watson H, Woodside D, Yao S, Yilmaz Z, Zeggini E, Zerwas S, Zipfel S, Alfredsson L, Andreassen O, Aschauer H, Barrett J, Bencko V, Carlberg L, Cichon S, Cohen-Woods S, Dina C, Ding B, Espeseth T, Floyd J, Gallinger S, Gambaro G, Giegling I, Herms S, Janout V, Julià A, Klareskog L, Le Hellard S, Leboyer M, Lundervold A, Marsal S, Mattingsdal M, Navratilova M, Ophoff R, Palotie A, Pinto D, Ripatti S, Rujescu D, Scherer S, Scott L, Sladek R, Soranzo N, Southam L, Steen V, Wichmann H, Widen E, Breen G, Bulik C, Thornton L, Magnusson P, Bulik C, Larsson H. Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches. Biological Psychiatry 2019, 86: 577-586. PMID: 31301758, PMCID: PMC6776821, DOI: 10.1016/j.biopsych.2019.04.036.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityChildFeeding and Eating DisordersFemaleHumansMaleMultifactorial InheritanceRegistriesRisk FactorsSwedenYoung AdultConceptsPolygenic risk scoresAttention-deficit/hyperactivity disorder polygenic risk scoresAttention-deficit/hyperactivity disorderQuantitative genetic modelRisk scoreGenetic associationGenetic correlationsEating disordersRegister-based informationAnorexia nervosaPopulation-based sampleGenetic modelsDegree of relatednessGenetically informed approachesAttention-deficit/hyperactivityNationwide population studyMaternal half-sistersCorrelates of attention-deficit/hyperactivity disorderFull-sistersAttention-deficit/hyperactivity disorder symptomsFamilial coaggregationNationwide populationGenetically informative designsShared etiologySubscales Drive