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 Research
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
Genetics of Spontaneous Intracerebral Hemorrhage
Falcone GJ, Woo D. Genetics of Spontaneous Intracerebral Hemorrhage. Stroke 2017, 48: 3420-3424. PMID: 29114093, PMCID: PMC5777521, DOI: 10.1161/strokeaha.117.017072.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
APOE &egr; variants increase risk of warfarin-related intracerebral hemorrhage
Falcone GJ, Radmanesh F, Brouwers HB, Battey TW, Devan WJ, Valant V, Raffeld MR, Chitsike LP, Ayres AM, Schwab K, Goldstein JN, Viswanathan A, Greenberg SM, Selim M, Meschia JF, Brown DL, Worrall BB, Silliman SL, Tirschwell DL, Flaherty ML, Martini SR, Deka R, Biffi A, Kraft P, Woo D, Rosand J, Anderson CD. APOE &egr; variants increase risk of warfarin-related intracerebral hemorrhage. Neurology 2014, 83: 1139-1146. PMID: 25150286, PMCID: PMC4176027, DOI: 10.1212/wnl.0000000000000816.Peer-Reviewed Original ResearchDopamine Genetic Risk Score Predicts Depressive Symptoms in Healthy Adults and Adults with Depression
Pearson-Fuhrhop KM, Dunn EC, Mortero S, Devan WJ, Falcone GJ, Lee P, Holmes AJ, Hollinshead MO, Roffman JL, Smoller JW, Rosand J, Cramer SC. Dopamine Genetic Risk Score Predicts Depressive Symptoms in Healthy Adults and Adults with Depression. PLOS ONE 2014, 9: e93772. PMID: 24834916, PMCID: PMC4023941, DOI: 10.1371/journal.pone.0093772.Peer-Reviewed Original ResearchConceptsGenetic risk scoreRisk scoreHealthy adult participantsDepressive symptomatologyAdult participantsPathophysiology of depressionDopamine receptor bindingSynaptic dopamine availabilityDiscovery sampleReplication sampleDopamine-related genesDopamine metabolismMonoamine neurotransmissionDepressive symptomsDopamine neurotransmissionHealthy individualsHealthy adultsFunctional polymorphismsHuman disabilityDopamine availabilityReceptor bindingDepressionEtiologic insightsAdultsFurther studiesAccuracy 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-Wide Association StudyGenome, HumanGenotypeGenotyping 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
Apolipoprotein E, Statins, and Risk of Intracerebral Hemorrhage
Woo D, Deka R, Falcone GJ, Flaherty ML, Haverbusch M, Martini SR, Greenberg SM, Ayres AM, Sauerbeck L, Kissela BM, Kleindorfer DO, Moomaw CJ, Anderson CD, Broderick JP, Rosand J, Langefeld CD, Woo JG. Apolipoprotein E, Statins, and Risk of Intracerebral Hemorrhage. Stroke 2013, 44: 3013-3017. PMID: 24008570, PMCID: PMC3873717, DOI: 10.1161/strokeaha.113.001304.Peer-Reviewed Original ResearchConceptsRisk of ICHLobar intracerebral hemorrhageStatin useIntracerebral hemorrhageReplication cohortICH casesAssociation of hypercholesterolemiaHemorrhagic Stroke studyNonlobar intracerebral hemorrhageCase-control studyApolipoprotein E genotypeFisher's exact testEnvironmental risk factorsBreslow-Day testHemorrhagic strokeStroke StudyRisk factorsClinical changesE4 genotypeAPOE polymorphismE genotypeApolipoprotein EDiscovery cohortHigh riskLower riskEarly-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 ResearchConceptsAge 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 investigationRiskBalding17q25 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
2012
Burden of Risk Alleles for Hypertension Increases Risk of Intracerebral Hemorrhage
Falcone GJ, Biffi A, Devan WJ, Jagiella JM, Schmidt H, Kissela B, Hansen BM, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano C, Ayres AM, Schwab K, Pera J, Urbanik A, Rost NS, Goldstein JN, Viswanathan A, Pichler A, Enzinger C, Norrving B, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Montaner J, Fernandez-Cadenas I, Delgado P, Broderick JP, Greenberg SM, Roquer J, Lindgren A, Slowik A, Schmidt R, Flaherty ML, Kleindorfer DO, Langefeld CD, Woo D, Rosand J. Burden of Risk Alleles for Hypertension Increases Risk of Intracerebral Hemorrhage. Stroke 2012, 43: 2877-2883. PMID: 22933587, PMCID: PMC3479325, DOI: 10.1161/strokeaha.112.659755.Peer-Reviewed Original ResearchConceptsRisk of ICHBlood pressure levelsIntracerebral hemorrhageGenetic risk scoreUnweighted genetic risk scoreRisk scoreProspective multicenter case-control studyMulticenter case-control studyHistory of hypertensionLobar intracerebral hemorrhageDeep intracerebral hemorrhagePotent risk factorCase-control studyLogistic regression modelsControl subjectsRisk factorsICH casesHypertensionIncrease riskCumulative burden