2024
Health-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk
Marini S, Kimball T, Mayerhofer E, Tack R, Senff J, Prapiadou S, Rivier C, Duskin J, Kourkoulis C, Falcone G, Yechoor N, Tanzi R, Rosand J, Singh S, Parodi L, Anderson C. Health-Related Behaviors and Risk of Common Age-Related Brain Diseases Across Severities of Genetic Risk. Neurology 2024, 103: e210014. PMID: 39504504, DOI: 10.1212/wnl.0000000000210014.Peer-Reviewed Original ResearchConceptsLate-life depressionGenetic riskDementia riskUK Biobank (UKBEffects of healthy lifestylesHealth-related behaviorsGenetic predispositionElevated genetic riskProspective cohort studyHazard of strokeCox proportional hazards modelsAge-related brain diseasesLifestyle behaviorsCare scoresUKB participantsProportional hazards modelHealthy lifestyleIncidence of strokeMultivariate Cox proportional hazards modelPolygenic scoresTargeted interventionsLifestyle adjustmentsAggregate risk estimatesRisk estimatesCohort study
2019
Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity
Marini S, Crawford K, Morotti A, Lee MJ, Pezzini A, Moomaw CJ, Flaherty ML, Montaner J, Roquer J, Jimenez-Conde J, Giralt-Steinhauer E, Elosua R, Cuadrado-Godia E, Soriano-Tarraga C, Slowik A, Jagiella JM, Pera J, Urbanik A, Pichler A, Hansen BM, McCauley JL, Tirschwell DL, Selim M, Brown DL, Silliman SL, Worrall BB, Meschia JF, Kidwell CS, Testai FD, Kittner SJ, Schmidt H, Enzinger C, Deary IJ, Rannikmae K, Samarasekera N, Salman RA, Sudlow CL, Klijn CJM, van Nieuwenhuizen KM, Fernandez-Cadenas I, Delgado P, Norrving B, Lindgren A, Goldstein JN, Viswanathan A, Greenberg SM, Falcone GJ, Biffi A, Langefeld CD, Woo D, Rosand J, Anderson CD. Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity. JAMA Neurology 2019, 76: 480-491. PMID: 30726504, PMCID: PMC6459133, DOI: 10.1001/jamaneurol.2018.4519.Peer-Reviewed Original ResearchConceptsRace/ethnicityIntracerebral hemorrhageICH riskPotent genetic risk factorApolipoprotein E (APOE) ε4 alleleAPOE allele statusBurden of hypertensionPopulation-based studyPrimary intracerebral hemorrhageIntracerebral hemorrhage riskCase-control studyAssociation of APOEPropensity score analysisGenetic risk factorsWhite participantsRace/ethnic groupsHypertension burdenHemorrhage riskClinical variablesInternational Stroke Genetics ConsortiumRisk factorsSecondary causesΕ2 alleleICH casesApolipoprotein E
2016
Cortical superficial siderosis predicts early recurrent lobar hemorrhage
Roongpiboonsopit D, Charidimou A, William CM, Lauer A, Falcone GJ, Martinez-Ramirez S, Biffi A, Ayres A, Vashkevich A, Awosika OO, Rosand J, Gurol ME, Silverman SB, Greenberg SM, Viswanathan A. Cortical superficial siderosis predicts early recurrent lobar hemorrhage. Neurology 2016, 87: 1863-1870. PMID: 27694268, PMCID: PMC5100711, DOI: 10.1212/wnl.0000000000003281.Peer-Reviewed Original ResearchConceptsCortical superficial siderosisConvexity subarachnoid hemorrhageCerebral amyloid angiopathyRecurrent ICHSuperficial siderosisAcute convexity subarachnoid hemorrhageDisseminated cortical superficial siderosisSingle-center cohort studyBaseline ICH volumeRecurrent lobar hemorrhageProportional hazards modelWhite matter hyperintensitiesIntracerebral hemorrhage recurrenceLobar hemorrhageLobar ICHSymptomatic ICHBoston criteriaConsecutive survivorsCohort studyAmyloid angiopathyHemorrhage recurrenceIndependent predictorsUnivariable analysisCerebral microbleedsIndex event
2014
Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy
Shoamanesh A, Martinez-Ramirez S, Oliveira-Filho J, Reijmer Y, Falcone GJ, Ayres A, Schwab K, Goldstein JN, Rosand J, Gurol ME, Viswanathan A, Greenberg SM. Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy. Neurology 2014, 83: 1838-1843. PMID: 25320098, PMCID: PMC4240429, DOI: 10.1212/wnl.0000000000000984.Peer-Reviewed Original ResearchConceptsCortical superficial siderosisCerebral amyloid angiopathyCMB countCerebral microbleedsSuperficial siderosisAmyloid angiopathyΕ4 allele frequencyCross-sectional analysisCSS presenceAPOE genotypeAPOE ε4MRI scansAngiopathyMicrobleedsSiderosisCountSeverityGenetic associationLongitudinal research studyCS relativeDistinct patternsAllele frequenciesSubjectsIndividualsTertileAccuracy 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
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 riskHeritability 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 subjectsGenomeGenesLociVariants