2023
A 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 correlationsA 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 ResearchMeSH KeywordsCerebral HemorrhageFibrinolytic AgentsGenome-Wide Association StudyGenomicsHumansRisk FactorsConceptsClinical 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 riskMetaGRSWhole-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 variantsTraits
2022
Genetically‐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 DVitamins
2020
Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage
Falcone GJ, Kirsch E, Acosta JN, Noche RB, Leasure A, Marini S, Chung J, Selim M, Meschia JF, Brown DL, Worrall BB, Tirschwell DL, Jagiella JM, Schmidt H, Jimenez‐Conde J, Fernandez‐Cadenas I, Lindgren A, Slowik A, Gill D, Holmes M, Phuah C, Petersen NH, Matouk CN, Gunel M, Sansing L, Bennett D, Chen Z, Sun LL, Clarke R, Walters RG, Gill TM, Biffi A, Kathiresan S, Langefeld CD, Woo D, Rosand J, Sheth KN, Anderson CD, Consortium F. Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage. Annals Of Neurology 2020, 88: 56-66. PMID: 32277781, PMCID: PMC7523882, DOI: 10.1002/ana.25740.Peer-Reviewed Original ResearchConceptsIntracerebral hemorrhagePolygenic risk scoresLDL cholesterolLower riskTotal cholesterolICH riskLow-density lipoprotein cholesterol levelsRisk of ICHLipoprotein cholesterol levelsPotential causal roleMendelian randomization analysisAnn NeurolLDL levelsCholesterol levelsICH casesObservational studySD increaseSignificant single nucleotide polymorphismsRisk scoreSignificant associationCholesterolMR analysisInverse correlationRandomization analysisSingle nucleotide polymorphisms
2019
Subtype Specificity of Genetic Loci Associated With Stroke in 16 664 Cases and 32 792 Controls
Traylor M, Anderson CD, Rutten-Jacobs LCA, Falcone GJ, Comeau ME, Ay H, Sudlow CLM, Xu H, Mitchell BD, Cole JW, Rexrode K, Jimenez-Conde J, Schmidt R, Grewal RP, Sacco R, Ribases M, Rundek T, Rosand J, Dichgans M, Lee JM, Langefeld CD, Kittner SJ, Markus HS, Woo D, Malik R, Consortium O. Subtype Specificity of Genetic Loci Associated With Stroke in 16 664 Cases and 32 792 Controls. Circulation Genomic And Precision Medicine 2019, 12: e002338. PMID: 31306060, PMCID: PMC7477820, DOI: 10.1161/circgen.118.002338.Peer-Reviewed Original ResearchAgedAged, 80 and overBayes TheoremCase-Control StudiesEuropeFemaleGenetic LociGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedStroke
2018
Analysis of shared heritability in common disorders of the brain
Consortium T, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Schott J, Rossor M, Lupton M, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis J, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee S, De Jager P, Geschwind D, Riemenschneider M, Riedel-Heller S, Rotter J, Ransmayr G, Hyman B, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh K, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt G, Freilinger T, Ran C, Gordon S, Borck G, Adams H, Lehtimäki T, Wedenoja J, Buring J, Schürks M, Hrafnsdottir M, Hottenga J, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin N, Montgomery G, Kurki M, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari M, Belin A, van den Maagdenberg A, Zwart J, Boomsma D, Eriksson N, Olesen J, Chasman D, Nyholt D, Anney R, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino C, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro T, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz W, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller R, Molloy A, Ng P, Oliver K, Privitera M, Radtke R, Ruppert A, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya S, Smith P, Sperling M, Striano P, Surges R, Thomas G, Visscher F, Whelan C, Zara F, Heinzen E, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris H, Sharma M, Ryten M, Mok K, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen W, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Perica V, Thornton L, Huckins L, Rayner N, Lewis C, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson J, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker J, O’Toole J, Trace S, Davis O, Helder S, Ehrlich S, Herpertz-Dahlmann B, Danner U, van Elburg A, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick D, Ripatti S, Andreassen O, Espeseth T, Lundervold A, Steen V, Pinto D, Scherer S, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi K, Mitchell J, Strober M, Bergen A, Kaye W, Szatkiewicz J, Cormand B, Ramos-Quiroga J, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz M, Haavik J, Zayats T, Johansson S, Williams N, Elia J, Dempfle A, Rothenberger A, Kuntsi J, Oades R, Banaschewski T, Franke B, Buitelaar J, Vasquez A, Doyle A, Reif A, Lesch K, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt S, Dalsgaard S, Børglum A, Waldman I, Wilmot B, Molly N, Bau C, Crosbie J, Schachar R, Loo S, McGough J, Grevet E, Medland S, Robinson E, Weiss L, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck S, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze T, Thompson R, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen S, Schalling M, Jamain S, Maaser A, Fischer S, Reinbold C, Fullerton J, Grigoroiu-Serbanescu M, Guzman-Parra J, Mayoral F, Schofield P, Cichon S, Mühleisen T, Degenhardt F, Schumacher J, Bauer M, Mitchell P, Gershon E, Rice J, Potash J, Zandi P, Craddock N, Ferrier I, Alda M, Rouleau G, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski P, Edenberg H, Cruceanu C, Jones I, Posthuma D, Andlauer T, Forstner A, Streit F, Baune B, Air T, Sinnamon G, Wray N, MacIntyre D, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp C, Hickie I, Pergadia M, Mehta D, Smit J, Jansen R, de Geus E, Dunn E, Li Q, Nauck M, Schoevers R, Beekman A, Knowles J, Viktorin A, Arnold P, Barr C, Bedoya-Berrio G, Bienvenu O, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks E, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna G, Hartmann A, Hirschtritt M, Hoekstra P, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon G, Macciardi F, Madruga-Garrido M, Malaty I, Maras A, McGrath L, Miguel E, Mir P, Nestadt G, Nicolini H, Okun M, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos E, Reus V, Richter M, Riddle M, Robertson M, Roessner V, Rosário M, Samuels J, Sandor P, Stein D, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland J, Wolanczyk T, Worbe Y, Zai G, Goes F, McLaughlin N, Nestadt P, Grabe H, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong S, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy K, Murray R, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders A, Schall U, Schwab S, Sim K, So H, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman P, Henskens F, Mattingsdal M, Oh S, Scott R, Webb B, Breen G, Churchhouse C, Bulik C, Daly M, Dichgans M, Faraone S, Guerreiro R, Holmans P, Kendler K, Koeleman B, Mathews C, Price A, Scharf J, Sklar P, Williams J, Wood N, Cotsapas C, Palotie A, Smoller J, Sullivan P, Rosand J, Corvin A, Neale B. Analysis of shared heritability in common disorders of the brain. Science 2018, 360 PMID: 29930110, PMCID: PMC6097237, DOI: 10.1126/science.aap8757.Peer-Reviewed Original ResearchMeSH KeywordsBrain DiseasesGenetic VariationGenome-Wide Association StudyHumansMental DisordersPhenotypeQuantitative Trait, HeritableRisk FactorsConceptsPsychiatric disordersBrain disordersCommon variant riskRisk factorsCommon disorderNeurological disordersDiagnostic misclassificationBrain phenotypesCommon genetic variationControl participantsDisordersVariant riskPhenotypic heterogeneityBrainEtiologic overlapGenetic sharingGenome-wide association studiesCognitive measuresAssociation studiesPhenotype17p12 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 ResearchMeSH KeywordsAgedAged, 80 and overCerebral HemorrhageChromosomes, Human, Pair 17FemaleGenome-Wide Association StudyGenotypeHematomaHumansMaleMiddle AgedPolymorphism, Single NucleotideConceptsAssociation 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 controlMultiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, Amouyel P, Ay H, Bartz TM, Benavente OR, Bevan S, Boncoraglio GB, Brown RD, Butterworth AS, Carrera C, Carty CL, Chasman DI, Chen WM, Cole JW, Correa A, Cotlarciuc I, Cruchaga C, Danesh J, de Bakker PIW, DeStefano AL, den Hoed M, Duan Q, Engelter ST, Falcone GJ, Gottesman RF, Grewal RP, Gudnason V, Gustafsson S, Haessler J, Harris TB, Hassan A, Havulinna AS, Heckbert SR, Holliday EG, Howard G, Hsu FC, Hyacinth HI, Ikram MA, Ingelsson E, Irvin MR, Jian X, Jiménez-Conde J, Johnson JA, Jukema JW, Kanai M, Keene KL, Kissela BM, Kleindorfer DO, Kooperberg C, Kubo M, Lange LA, Langefeld CD, Langenberg C, Launer LJ, Lee JM, Lemmens R, Leys D, Lewis CM, Lin WY, Lindgren AG, Lorentzen E, Magnusson PK, Maguire J, Manichaikul A, McArdle PF, Meschia JF, Mitchell BD, Mosley TH, Nalls MA, Ninomiya T, O’Donnell M, Psaty BM, Pulit SL, Rannikmäe K, Reiner AP, Rexrode KM, Rice K, Rich SS, Ridker PM, Rost NS, Rothwell PM, Rotter JI, Rundek T, Sacco RL, Sakaue S, Sale MM, Salomaa V, Sapkota BR, Schmidt R, Schmidt CO, Schminke U, Sharma P, Slowik A, Sudlow CLM, Tanislav C, Tatlisumak T, Taylor KD, Thijs VNS, Thorleifsson G, Thorsteinsdottir U, Tiedt S, Trompet S, Tzourio C, van Duijn CM, Walters M, Wareham NJ, Wassertheil-Smoller S, Wilson JG, Wiggins KL, Yang Q, Yusuf S, Bis J, Pastinen T, Ruusalepp A, Schadt E, Koplev S, Björkegren J, Codoni V, Civelek M, Smith N, Trégouët D, Christophersen I, Roselli C, Lubitz S, Ellinor P, Tai E, Kooner J, Kato N, He J, van der Harst P, Elliott P, Chambers J, Takeuchi F, Johnson A, Sanghera D, Melander O, Jern C, Strbian D, Fernandez-Cadenas I, Longstreth W, Rolfs A, Hata J, Woo D, Rosand J, Pare G, Hopewell J, Saleheen D, Stefansson K, Worrall B, Kittner S, Seshadri S, Fornage M, Markus H, Howson J, Kamatani Y, Debette S, Dichgans M. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nature Genetics 2018, 50: 524-537. PMID: 29531354, PMCID: PMC5968830, DOI: 10.1038/s41588-018-0058-3.Peer-Reviewed Original ResearchConceptsStroke risk lociRisk lociGenome-wide association studiesNew susceptibility lociGenetic variationIndividual lociVascular traitsBioinformatics analysisAssociation studiesCardiac traitsSusceptibility lociDrug targetsLociRisk variantsScore regressionGenesFunctional datasetsTraitsGenetic risk scoreDistinct associationsPathwayVariantsTarget
2016
Low-frequency and common genetic variation in ischemic stroke
Malik R, Traylor M, Pulit SL, Bevan S, Hopewell JC, Holliday EG, Zhao W, Abrantes P, Amouyel P, Attia JR, Battey TW, Berger K, Boncoraglio GB, Chauhan G, Cheng YC, Chen WM, Clarke R, Cotlarciuc I, Debette S, Falcone GJ, Ferro JM, Gamble DM, Ilinca A, Kittner SJ, Kourkoulis CE, Lemmens R, Levi CR, Lichtner P, Lindgren A, Liu J, Meschia JF, Mitchell BD, Oliveira SA, Pera J, Reiner AP, Rothwell PM, Sharma P, Slowik A, Sudlow CL, Tatlisumak T, Thijs V, Vicente AM, Woo D, Seshadri S, Saleheen D, Rosand J, Markus HS, Worrall BB, Dichgans M. Low-frequency and common genetic variation in ischemic stroke. Neurology 2016, 86: 1217-1226. PMID: 26935894, PMCID: PMC4818561, DOI: 10.1212/wnl.0000000000002528.Peer-Reviewed Original ResearchMeSH KeywordsBrain IschemiaCase-Control StudiesCooperative BehaviorGenetic VariationGenome-Wide Association StudyHumansPolymorphism, Single NucleotideStrokeConceptsIndividual genome-wide association studiesLow-frequency genetic variantsGenome-wide association studiesCommon genetic variationHigh-frequency variantsGenomes Phase ILow-frequency variantsGenetic variationAssociation studiesFrequency variantsSignificant enrichmentGenetic variantsAllele frequenciesPITX2Rare variantsSouth Asian sampleWider significanceVariantsEnrichmentLociDiscovery phaseHDAC9P-value distributionsHeritabilityZFHX3
2015
Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke
Traylor M, Zhang CR, Adib-Samii P, Devan WJ, Parsons OE, Lanfranconi S, Gregory S, Cloonan L, Falcone GJ, Radmanesh F, Fitzpatrick K, Kanakis A, Barrick TR, Moynihan B, Lewis CM, Boncoraglio GB, Lemmens R, Thijs V, Sudlow C, Wardlaw J, Rothwell PM, Meschia JF, Worrall BB, Levi C, Bevan S, Furie KL, Dichgans M, Rosand J, Markus HS, Rost N, Smoller S, Sorkin J, Wang X, Selim M, Pikula A, Wolf P, Debette S, Seshadri S, de Bakker P, Chasman D, Rexrode K, Chen I, Rotter J, Luke M, Sale M, Lee T, Chang K, Elkind M, Goldstein L, James M, Breteler M, O'Donnell C, Leys D, Carty C, Kidwell C, Olesen J, Sharma P, Rich S, Tatlisumak T, Happola O, Bijlenga P, Soriano C, Giralt E, Roquer J, Jimenez-Conde J, Cotlarcius I, Hardy J, Korostynski M, Boncoraglio G, Ballabio E, Parati E, Mateusz A, Urbanik A, Dziedzic T, Jagiella J, Gasowski J, Wnuk M, Olszanecki R, Pera J, Slowik A, Juchniewicz K, Levi C, Nyquist P, Cendes I, Cabral N, Franca P, Goncalves A, Keller L, Crisby M, Kostulas K, Lemmens R, Ahmadi K, Opherk C, Duering M, Dichgans M, Malik R, Gonik M, Staals J, Melander O, Burri P, Sadr-Nabavi A, Romero J, Biffi A, Anderson C, Falcone G, Brouwers B, Rosand J, Rost N, Du R, Kourkoulis C, Battey T, Lubitz S, Mueller-Myhsok B, Meschia J, Brott T, Pare G, Pichler A, Enzinger C, Schmidt H, Schmidt R, Seiler S, Blanton S, Yamada Y, Bersano A, Rundek T, Sacco R, Yvonne Chan Y, Gschwendtner A, Deng Z, Barr T, Gwinn K, Corriveau R, Singleton A, Waddy S, Launer L, Chen C, Le K, Lee W, Tan E, Olugbodi A, Rothwell P, Schilling S, Mok V, Lebedeva E, Jern C, Jood K, Olsson S, Kim H, Lee C, Kilarski L, Markus H, Peycke J, Bevan S, Sheu W, Chiou H, Chern J, Giraldo E, Taqi M, Jain V, Lam O, Howard G, Woo D, Kittner S, Mitchell B, Cole J, O'Connell J, Milewicz D, Illoh K, Worrall B, Stine C, Karaszewski B, Werring D, Sofat R, Smalley J, Lindgren A, Hansen B, Norrving B, Smith G, Martín J, Thijs V, Klijn K, van't Hof F, Algra A, Macleod M, Perry R, Arnett D, Pezzini A, Padovani A, Cramer S, Fisher M, Saleheen D, Broderick J, Kissela B, Doney A, Sudlow C, Rannikmae K, Silliman S, McDonough C, Walters M, Pedersen A, Nakagawa K, Chang C, Dobbins M, McArdle P, Chang Y, Brown R, Brown D, Holliday E, Kalaria R, Maguire J, Attia J, Farrall M, Giese A, Fornage M, Majersik J, Cushman M, Keene K, Bennett S, Tirschwell D, Psaty B, Reiner A, Longstreth W, Spence D, Montaner J, Fernandez-Cadenas I, Langefeld C, Bushnell C, Heitsch L, Lee J, Sheth K. Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology 2015, 86: 146-153. PMID: 26674333, PMCID: PMC4731688, DOI: 10.1212/wnl.0000000000002263.Peer-Reviewed Original ResearchMeSH KeywordsCerebral Small Vessel DiseasesGenetic Predisposition to DiseaseGenetic TestingGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRisk FactorsStrokeWhite MatterConceptsGenome-wide significant associationGenetic associationGenome-wide levelGenome-wide significanceMeta-analysis testingIndependent lociSuggestive lociGenetic lociLociDisease mechanismsNovel associationsGenetic susceptibilityPopulationCommon genetic susceptibilityDirection of effectReference datasetRare Coding Variation and Risk of Intracerebral Hemorrhage
Radmanesh F, Falcone GJ, Anderson CD, McWilliams D, Devan WJ, Brown WM, Battey TW, Ayres AM, Raffeld MR, Schwab K, Sun G, Deka R, Viswanathan A, Goldstein JN, Greenberg SM, Tirschwell DL, Silliman SL, Selim M, Meschia JF, Brown DL, Worrall BB, Langefeld CD, Woo D, Rosand J. Rare Coding Variation and Risk of Intracerebral Hemorrhage. Stroke 2015, 46: 2299-2301. PMID: 26111891, PMCID: PMC4519408, DOI: 10.1161/strokeaha.115.009838.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCerebral HemorrhageFemaleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedRisk FactorsConceptsGenome-wide significance levelRare coding variationsGene-based association testingSusceptibility lociGene-based associationRare Coding VariantsGenome-wide significanceIllumina HumanExome BeadChipGenetic susceptibility lociSubstantial genetic componentCoding variationsChromosome 19q13APOE epsilon allelesHumanExome BeadChipGenetic componentCoding variantAssociation testingLociCommon variantsEpsilon allelesLarge effectVariantsBeadChipGenesTOMM40
2014
Genetic Architecture of White Matter Hyperintensities Differs in Hypertensive and Nonhypertensive Ischemic Stroke
Adib-Samii P, Devan W, Traylor M, Lanfranconi S, Zhang CR, Cloonan L, Falcone GJ, Radmanesh F, Fitzpatrick K, Kanakis A, Rothwell PM, Sudlow C, Boncoraglio GB, Meschia JF, Levi C, Dichgans M, Bevan S, Rosand J, Rost NS, Markus HS. Genetic Architecture of White Matter Hyperintensities Differs in Hypertensive and Nonhypertensive Ischemic Stroke. Stroke 2014, 46: 348-353. PMID: 25550368, PMCID: PMC4306538, DOI: 10.1161/strokeaha.114.006849.Peer-Reviewed Original ResearchMeta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage
Woo D, Falcone GJ, Devan WJ, Brown WM, Biffi A, Howard TD, Anderson CD, Brouwers HB, Valant V, Battey TW, Radmanesh F, Raffeld MR, Baedorf-Kassis S, Deka R, Woo JG, Martin LJ, Haverbusch M, Moomaw CJ, Sun G, Broderick JP, Flaherty ML, Martini SR, Kleindorfer DO, Kissela B, Comeau ME, Jagiella JM, Schmidt H, Freudenberger P, Pichler A, Enzinger C, Hansen BM, Norrving B, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Roquer J, Kraft P, Ayres AM, Schwab K, McCauley JL, Pera J, Urbanik A, Rost NS, Goldstein JN, Viswanathan A, Stögerer EM, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Montaner J, Fernandez-Cadenas I, Delgado P, Malik R, Dichgans M, Greenberg SM, Rothwell PM, Lindgren A, Slowik A, Schmidt R, Langefeld CD, Rosand J, Consortium T. Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage. American Journal Of Human Genetics 2014, 94: 511-521. PMID: 24656865, PMCID: PMC3980413, DOI: 10.1016/j.ajhg.2014.02.012.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesCerebral HemorrhageChromosomes, Human, Pair 1Genetic Predisposition to DiseaseGenome-Wide Association StudyHumansQuantitative Trait LociConceptsIntracerebral hemorrhageControl cohortCase cohortRisk of ICHUnderlying vascular pathologyLobar intracerebral hemorrhageNonlobar intracerebral hemorrhageRandom digit dialingRuptured blood vesselsReplication of signalsStroke subtypesAcute treatmentWorse prognosisControl subjectsAmbulatory clinicsICH casesMeta-analyzed dataVascular pathologyDiscovery cohortCase subjectsSusceptibility lociCohortICH subtypesBlood vesselsNonlobarAccuracy 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
2013
Early-Onset Alopecia and Amyotrophic Lateral Sclerosis: A Cohort Study
Fondell E, Fitzgerald KC, Falcone GJ, O'Reilly É, Ascherio A. Early-Onset Alopecia and Amyotrophic Lateral Sclerosis: A Cohort Study. American Journal Of Epidemiology 2013, 178: 1146-1149. PMID: 23942216, PMCID: PMC3783095, DOI: 10.1093/aje/kwt096.Peer-Reviewed Original ResearchMeSH KeywordsAge FactorsAgedAged, 80 and overAlopeciaAmyotrophic Lateral SclerosisCohort StudiesDNA-Binding ProteinsGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideConceptsAge 45 yearsEarly-onset alopeciaRisk of ALSExtensive alopeciaTAR DNA-binding protein 43DNA-binding protein 43Health Professionals FollowAmyotrophic lateral sclerosisEarly baldingProfessionals FollowCohort studyModerate alopeciaProtein 43Large cohortHigh riskLateral sclerosisUS menAlopeciaSingle nucleotide polymorphism (SNP) variantsPolymorphism variantsALSMenFurther investigationRiskBaldingNovel Insights Into the Genetics of Intracerebral Hemorrhage
Biffi A, Anderson CD, Falcone GJ, Kissela B, Norrving B, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Broderick JP, Greenberg SM, Roquer J, Lindgren A, Slowik A, Schmidt R, Woo D, Rosand J. Novel Insights Into the Genetics of Intracerebral Hemorrhage. Stroke 2013, 44: s137. PMID: 23709713, DOI: 10.1161/strokeaha.113.001912.Peer-Reviewed Original ResearchApolipoprotein E2Cerebral Amyloid AngiopathyCerebral HemorrhageGenome-Wide Association StudyHumansHypertensionRisk Factors17q25 Locus Is Associated With White Matter Hyperintensity Volume in Ischemic Stroke, But Not With Lacunar Stroke Status
Adib-Samii P, Rost N, Traylor M, Devan W, Biffi A, Lanfranconi S, Fitzpatrick K, Bevan S, Kanakis A, Valant V, Gschwendtner A, Malik R, Richie A, Gamble D, Segal H, Parati EA, Ciusani E, Holliday EG, Maguire J, Wardlaw J, Worrall B, Bis J, Wiggins KL, Longstreth W, Kittner SJ, Cheng YC, Mosley T, Falcone GJ, Furie KL, Leiva-Salinas C, Lau BC, Khan M, Sharma P, Fornage M, Mitchell B, Psaty B, Sudlow C, Levi C, Boncoraglio G, Rothwell P, Meschia J, Dichgans M, Rosand J, Markus H. 17q25 Locus Is Associated With White Matter Hyperintensity Volume in Ischemic Stroke, But Not With Lacunar Stroke Status. Stroke 2013, 44: 1609-1615. PMID: 23674528, PMCID: PMC3771337, DOI: 10.1161/strokeaha.113.679936.Peer-Reviewed Original ResearchHeritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage
Devan WJ, Falcone GJ, Anderson CD, Jagiella JM, Schmidt H, Hansen BM, Jimenez-Conde J, Giralt-Steinhauer E, Cuadrado-Godia E, Soriano C, Ayres AM, Schwab K, Kassis SB, Valant V, Pera J, Urbanik A, Viswanathan A, Rost NS, Goldstein JN, Freudenberger P, Stögerer EM, Norrving B, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Montaner J, Fernandez-Cadenas I, Delgado P, Greenberg SM, Roquer J, Lindgren A, Slowik A, Schmidt R, Woo D, Rosand J, Biffi A. Heritability Estimates Identify a Substantial Genetic Contribution to Risk and Outcome of Intracerebral Hemorrhage. Stroke 2013, 44: 1578-1583. PMID: 23559261, PMCID: PMC3684199, DOI: 10.1161/strokeaha.111.000089.Peer-Reviewed Original ResearchConceptsGenetic variationGenome-wide genotype dataGenome-wide dataGenetic contributionHeritability estimatesPedigree-based studiesSubstantial genetic contributionFamily-based dataAdditional lociGenotype dataRisk variantsGenetic variantsHeritabilityGenetic influencesHeritability estimationProportion of variationNovel analytic toolGenetic risk factorsPhenotypeSubstantial roleUnrelated subjectsGenomeGenesLociVariantsBurden of Blood Pressure–Related Alleles Is Associated With Larger Hematoma Volume and Worse Outcome in Intracerebral Hemorrhage
Falcone GJ, Biffi A, Devan WJ, Brouwers HB, Anderson CD, Valant V, Ayres AM, Schwab K, Rost NS, Goldstein JN, Viswanathan A, Greenberg SM, Selim M, Meschia JF, Brown DL, Worrall BB, Silliman SL, Tirschwell DL, Rosand J. Burden of Blood Pressure–Related Alleles Is Associated With Larger Hematoma Volume and Worse Outcome in Intracerebral Hemorrhage. Stroke 2013, 44: 321-326. PMID: 23321443, PMCID: PMC3560332, DOI: 10.1161/strokeaha.112.675181.Peer-Reviewed Original ResearchConceptsPoor clinical outcomeBaseline hematoma volumeIntracerebral hemorrhageClinical outcomesHematoma volumeGenetic risk scoreBlood pressureICH volumeRisk scoreHypertension-related end-organ damageRisk of ICHAdmission ICH volumeEnd-organ damageLarger hematoma volumeSupratentorial intracerebral hemorrhageHigh blood pressureCerebral small vesselsDeep intracerebral hemorrhageSmall vesselsSingle nucleotide polymorphismsMultivariate regression analysisProgressive diseaseProspective studyAcute manifestationsWorse outcomes