2023
W22. DISENTANGLING THE ROLES OF GENETICS AND BODY MASS INDEX ACROSS PSYCHIATRIC DISORDERS
Signer R, Seah C, Young H, de Pins A, Johnson J, Cote A, Huckins L. W22. DISENTANGLING THE ROLES OF GENETICS AND BODY MASS INDEX ACROSS PSYCHIATRIC DISORDERS. European Neuropsychopharmacology 2023, 75: s116. DOI: 10.1016/j.euroneuro.2023.08.213.Peer-Reviewed Original ResearchExpression quantitative trait lociBody mass indexGenome-wide association studiesEffect of body mass indexAssociation studiesAvailability of genome-wide association studyGenetic riskPhenome-wide association studyIndirect effect of body mass indexPsychiatric disordersBody mass index spectrumStatistical fine-mappingQuantitative trait lociGenetic risk modelsCell-type specific mannerTissue enrichmentImpact of body mass indexGWAS lociTranscriptome imputationGenomic lociWhole genomeFine-mappingTrait lociGenomic underpinningsPhenotypic consequences
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 applicationChapter 14 Integration with systems biology approaches and -omics data to characterize risk variation
Young H, Cote A, Huckins L. Chapter 14 Integration with systems biology approaches and -omics data to characterize risk variation. 2022, 289-315. DOI: 10.1016/b978-0-12-819602-1.00017-6.Peer-Reviewed Original ResearchAssociation studiesPatterns of linkage disequilibriumTranscriptome-wide association studyGenome-wide association studiesFunctional genomic annotationsSystems biology approachGenome annotationNoncoding variantsNoncoding regionsLinkage disequilibriumGene regulationRegulatory regionsGene networksGenetic variantsBiology approachFunctional pathwaysRisk variationDevelopmental stagesGenetic riskGenesPathwayUnique considerationsVariantsVariation researchPsychiatric disorders
2020
Massively parallel techniques for cataloguing the regulome of the human brain
Townsley KG, Brennand KJ, Huckins LM. Massively parallel techniques for cataloguing the regulome of the human brain. Nature Neuroscience 2020, 23: 1509-1521. PMID: 33199899, PMCID: PMC8018778, DOI: 10.1038/s41593-020-00740-1.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsRegulatory elementsTarget genesParallel reporter assaysPutative regulatory elementsNon-coding regionsDisease-associated lociSpecific expression patternsCandidate risk lociPluripotent stem cellsHigh-throughput assaysRelevant molecular pathwaysTranscriptional responseRegulatory architectureRisk lociExpression patternsReporter assaysComplex brain disordersMolecular pathwaysRegulomeStem cellsRisk architectureGenetic riskGenesLociGenetic diagnosis
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 ResearchConceptsPolygenic 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 disorder