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 PMID: 39502073, 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 variantsAPOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation
Renedo D, Rivier C, Koo A, Sujijantarat N, Clocchiatti-Tuozzo S, Wu K, Torres-Lopez V, Huo S, Gunel M, de Havenon A, Sheth K, Matouk C, Falcone G. APOE ε4 and Intracerebral Hemorrhage in Patients With Brain Arteriovenous Malformation. JAMA Network Open 2024, 7: e2355368. PMID: 38363572, PMCID: PMC10873768, DOI: 10.1001/jamanetworkopen.2023.55368.Peer-Reviewed Original ResearchConceptsApolipoprotein E e4Participants of European ancestryRisk of intracerebral hemorrhageHigh risk of intracerebral hemorrhageCross-sectional studyUK BiobankEuropean ancestryHigh riskUs Research ProgramUK Biobank participantsInternational Classification of DiseasesAssociated with higher risk of ICHCross-sectional study of patientsAPOE e4 statusClassification of DiseasesApolipoprotein ENinth Revision and Tenth RevisionAssociated with higher riskIndividual-level dataMultivariate logistic regressionIntracerebral hemorrhage riskBrain arteriovenous malformationsIntracerebral hemorrhageBiobank participantsTenth Revision
2023
A Genomic Risk Score Identifies Individuals at High Risk for Intracerebral Hemorrhage
Myserlis E, Georgakis M, Demel S, Sekar P, Chung J, Malik R, Hyacinth H, Comeau M, Falcone G, Langefeld C, Rosand J, Woo D, Anderson C. A Genomic Risk Score Identifies Individuals at High Risk for Intracerebral Hemorrhage. Stroke 2023, 54: 973-982. PMID: 36799223, PMCID: PMC10050100, DOI: 10.1161/strokeaha.122.041701.Peer-Reviewed Original ResearchConceptsClinical risk factorsIncident intracerebral hemorrhageIntracerebral hemorrhageHigh-risk populationRisk factorsGenomic risk scoresRisk scoreHigher oddsHigh riskRisk factor-adjusted modelsStandard clinical risk factorsVascular risk factorsLobar intracerebral hemorrhageLow-risk populationNonlobar intracerebral hemorrhageUse of anticoagulantsPopulation-based UK Biobank cohortUK Biobank cohortEuropean ancestryAntithrombotic treatmentClinical predictorsSD incrementMedication usersLifetime riskMetaGRS
2018
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
Marini S, Devan WJ, Radmanesh F, Miyares L, Poterba T, Hansen BM, Norrving B, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Roquer J, Kourkoulis CE, Ayres AM, Schwab K, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Montaner J, Fernandez-Cadenas I, Delgado P, Greenberg SM, Lindgren A, Matouk C, Sheth KN, Woo D, Anderson CD, Rosand J, Falcone GJ. 17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage. Stroke 2018, 49: 1618-1625. PMID: 29915124, PMCID: PMC6085089, DOI: 10.1161/strokeaha.117.020091.Peer-Reviewed Original ResearchConceptsAssociation studiesGenome-wide association studiesNumerous copy number variantsSusceptibility risk lociWide association studyNovel biological pathwaysGenomic regionsIntergenic regionCopy number variantsRisk lociBiological pathwaysSusceptibility lociAssociation testingGenetic variantsNumber variantsEuropean ancestryLociReplicationDiscovery phaseVariantsAncestryImportant determinantPathwayTranslational studiesQuality control
2017
COL4A2 is associated with lacunar ischemic stroke and deep ICH
Rannikmäe K, Sivakumaran V, Millar H, Malik R, Anderson CD, Chong M, Dave T, Falcone GJ, Fernandez-Cadenas I, Jimenez-Conde J, Lindgren A, Montaner J, O'Donnell M, Paré G, Radmanesh F, Rost NS, Slowik A, Söderholm M, Traylor M, Pulit SL, Seshadri S, Worrall BB, Woo D, Markus HS, Mitchell BD, Dichgans M, Rosand J, Sudlow CLM, McArdle P, Wong Q, Gwinn K, Achterberg S, Algra A, Amouyel P, Arnett D, Arsava E, Attia J, Ay H, Bartz T, Battey T, Benavente O, Bevan S, Biffi A, Bis J, Blanton S, P J, Boncoraglio G, Brown R, Burgess A, Carrera C, Chapman Smith S, Chasman D, Chauhan G, Wei-Min Chen F, Cheng Y, Cloonan L, Cole J, Cotlarciuc I, Cruchaga C, Cuadrado-Godia E, Dawson J, Debette S, Delavaran H, Dell C, Doheny K, Dong C, Duggan D, Engström G, Evans M, Pallejà X, Faul J, Fornage M, Frossard P, Furie K, Gamble D, Gieger C, Giese A, Giralt-Steinhauer E, González H, Goris A, Gretarsdottir S, Grewal R, Grittner U, Gustafsson S, Han B, Hankey G, Heitsch L, Higgins P, Hochberg M, Holliday E, Hopewell J, Horenstein R, Howard G, Ikram M, Ilinca A, Ingelsson E, Irvin M, Jackson R, Jern C, Johnson J, Jood K, Kahn M, Kaplan R, Kappelle L, Kardia S, Keene K, Kissela B, Kleindorfer D, Koblar S, Labovitz D, Launer L, Laurie C, Laurie C, Lee C, Lee J, Lemmens R, Levi C, Leys D, Longstreth W, Maguire J, Manichaikul A, McClure L, McDonough C, Meisinger C, Melander O, Meschia J, Mola-Caminal M, Mosley T, Müller-Nurasyid M, Nalls M, O’Connell J, Ois Á, Papanicolaou G, Peddareddygari L, Pedersén A, Pera J, Peters A, Poole D, Psaty B, Rabionet R, Raffeld M, Rasheed A, Redfors P, Reiner A, Rexrode K, Ribasés M, Rich S, Robberecht W, Rodríguez-Campello A, Rolfs A, Roquer J, Rose L, Rosenbaum D, Rost N, Rothwell P, Rundek T, Ryan K, Sacco R, Sale M, Saleheen D, Salomaa V, Sánchez-Mora C, Schmidt C, Schmidt H, Schmidt R, Schürks M, Scott R, Segal H, Seiler S, Sharma P, Shuldiner A, Silver B, Smith J, Bsc C, Sparks M, Stanne T, Stefansson K, Stine O, Strauch K, Sturm J, Tajuddin S, Talbert R, Tatlisumak T, Thijs V, Thorleifsson G, Thorsteindottir U, Trompet S, Valant V, Waldenberger M, Walters M, Wang L, P J, Wang X, Wassertheil-Smoller S, Weir D, Wiggins K, Williams S, Wloch-Kopec D, Woodfield R, Wu O, Xu H, Zonderman A, de Bakker P, Kittner S, Bevan S, Hopewell J, Holliday E, Zhao W, Abrantes P, Amouyel P, Attia J, Battey T, Berger K, Boncoraglio G, Chauhan G, Cheng Y, Chen W, Clarke R, Cotlarciuc I, Debette S, Ferro J, Gamble D, Ilinca A, Kittner S, Lemmens R, Levi C, Lichtner P, Liu J, Meschia J, Oliveira S, Pera J, Reiner A, Rothwell P, Sharma P, Tatlisumak T, Thijs V, Vicente A, Saleheen D, Thorsteinsdottir U, DeStefano A, Gretarsdottir S, Donnelly P, Barroso I, Blackwell J, Bramon E, Brown M, Casas J, Corvin A, Deloukas P, Duncanson A, Jankowski J, Markus H, Mathew C, Palmer C, Plomin R, Rautanen A, sawcer S, Trembath R, Viswanathan A, Wood N, Spencer C. COL4A2 is associated with lacunar ischemic stroke and deep ICH. Neurology 2017, 89: 1829-1839. PMID: 28954878, PMCID: PMC5664302, DOI: 10.1212/wnl.0000000000004560.Peer-Reviewed Original Research
2016
Genetic variants in CETP increase risk of intracerebral hemorrhage
Anderson CD, Falcone GJ, Phuah C, Radmanesh F, Brouwers HB, Battey TW, Biffi A, Peloso GM, Liu DJ, Ayres AM, Goldstein JN, Viswanathan A, Greenberg SM, Selim M, Meschia JF, Brown DL, Worrall BB, Silliman SL, Tirschwell DL, Flaherty ML, Kraft P, Jagiella JM, Schmidt H, Hansen BM, Jimenez‐Conde J, Giralt‐Steinhauer E, Elosua R, Cuadrado‐Godia E, Soriano C, van Nieuwenhuizen K, Klijn CJ, Rannikmae K, Samarasekera N, Salman R, Sudlow CL, Deary IJ, Morotti A, Pezzini A, Pera J, Urbanik A, Pichler A, Enzinger C, Norrving B, Montaner J, Fernandez‐Cadenas I, Delgado P, Roquer J, Lindgren A, Slowik A, Schmidt R, Kidwell CS, Kittner SJ, Waddy SP, Langefeld CD, Abecasis G, Willer CJ, Kathiresan S, Woo D, Rosand J, Consortium O. Genetic variants in CETP increase risk of intracerebral hemorrhage. Annals Of Neurology 2016, 80: 730-740. PMID: 27717122, PMCID: PMC5115931, DOI: 10.1002/ana.24780.Peer-Reviewed Original ResearchConceptsGenetic variantsCandidate gene analysisDNA sequence variantsGlobal Lipids Genetics ConsortiumDNA sequencesOngoing therapeutic developmentsSequence variantsIndependent variantsNominal associationCETP locusGenetics ConsortiumEuropean ancestryCETP variantsLociTherapeutic developmentVariantsGenetic risk scoreCETPDiscovery cohortGenetic scoreAncestryReplicationSequenceAnn NeurolAdverse cerebrovascular outcomes
2014
Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data
Radmanesh F, Devan WJ, Anderson CD, Rosand J, Falcone GJ. Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data. European Journal Of Human Genetics 2014, 22: 1239-1242. PMID: 24448547, PMCID: PMC4169533, DOI: 10.1038/ejhg.2013.308.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAlzheimer DiseaseApolipoproteins ECase-Control StudiesCerebral HemorrhageGene FrequencyGenome, HumanGenome-Wide Association StudyGenotypeGenotyping TechniquesHapMap ProjectHumansLogistic ModelsLongitudinal StudiesPolymorphism, Single NucleotidePrincipal Component AnalysisProspective StudiesQuality ControlWhite PeopleConceptsIntracerebral hemorrhageAlzheimer's diseaseSingle nucleotide polymorphismsEpsilon allelesAPOE epsilon allelesCerebral amyloid angiopathyLate-onset Alzheimer's diseaseCatabolism of chylomicronsLow-density lipoproteinGenetic risk factorsAmyloid angiopathyCommon single nucleotide polymorphismsRisk factorsApolipoprotein EDensity lipoproteinControl groupMain apoproteinApoEDiseaseGenome-wide genotyping dataEuropean ancestryImproved balanceHapMap reference panelsGenome-wide genotyping arraysAlleles