2023
Impact of genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: A systematic review
Misra S, Quinn T, Falcone G, Sharma V, de Havenon A, Zhao Y, Eldem E, French J, Yasuda C, Dawson J, Liebeskind D, Kwan P, Mishra N. Impact of genetic polymorphisms on the risk of epilepsy amongst patients with acute brain injury: A systematic review. European Journal Of Neurology 2023, 30: 1791-1800. PMID: 36912749, DOI: 10.1111/ene.15777.Peer-Reviewed Original ResearchMeSH KeywordsAldehyde Dehydrogenase, MitochondrialBrain InjuriesBrain Injuries, TraumaticEpilepsyEpilepsy, Post-TraumaticHumansPolymorphism, Single NucleotideStrokeConceptsPost-traumatic epilepsyPost-stroke epilepsyTraumatic brain injuryRisk of epilepsySystematic reviewSingle nucleotide polymorphismsBrain injuryOdds ratioRisk of PSERisk of PTEAcute brain injuryGenetic polymorphismsConfidence intervalsAssociation of SNPsQ-Genie toolPSE patientsLate seizuresHazard ratioStroke patientsTBI patientsPrespecified protocolStudy qualityCurrent evidenceEpilepsyPatients
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
2021
Genetically Determined Low‐Density Lipoprotein Cholesterol and Risk of Subarachnoid Hemorrhage
Acosta JN, Both CP, Szejko N, Leasure AC, Abdelhakim S, Torres‐Lopez V, Brown SC, Matouk CC, Gunel M, Sheth KN, Falcone GJ. Genetically Determined Low‐Density Lipoprotein Cholesterol and Risk of Subarachnoid Hemorrhage. Annals Of Neurology 2021, 91: 145-149. PMID: 34709661, DOI: 10.1002/ana.26250.Peer-Reviewed Original ResearchMeSH KeywordsCholesterol, LDLHumansMendelian Randomization AnalysisPolymorphism, Single NucleotideSubarachnoid Hemorrhage
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 ResearchMeSH KeywordsAgedAged, 80 and overCerebral HemorrhageCholesterol, HDLCholesterol, LDLFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideTriglyceridesConceptsIntracerebral 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
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 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
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 ResearchMeSH KeywordsCerebral HemorrhageCollagen Type IVEuropeGenetic Association StudiesHumansPolymorphism, Single NucleotideStroke, Lacunar
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 ResearchMeSH KeywordsAdultAgedCerebral HemorrhageCholesterol Ester Transfer ProteinsCholesterol, HDLFemaleGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedPolymorphism, Single NucleotideConceptsGenetic 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 outcomesLow-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 datasetCommon variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease
Rannikmäe K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, Traylor M, Anderson CD, Battey TW, Radmanesh F, Deka R, Woo JG, Martin LJ, Jimenez-Conde J, Selim M, Brown DL, Silliman SL, Kidwell CS, Montaner J, Langefeld CD, Slowik A, Hansen BM, Lindgren AG, Meschia JF, Fornage M, Bis JC, Debette S, Ikram MA, Longstreth WT, Schmidt R, Zhang CR, Yang Q, Sharma P, Kittner SJ, Mitchell BD, Holliday EG, Levi CR, Attia J, Rothwell PM, Poole DL, Boncoraglio GB, Psaty BM, Malik R, Rost N, Worrall BB, Dichgans M, Van Agtmael T, Woo D, Markus HS, Seshadri S, Rosand J, Sudlow CL. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology 2015, 84: 918-926. PMID: 25653287, PMCID: PMC4351667, DOI: 10.1212/wnl.0000000000001309.Peer-Reviewed Original ResearchMeSH KeywordsCerebral Small Vessel DiseasesCollagen Type IVGenetic Association StudiesGenetic VariationHumansPolymorphism, Single NucleotideConceptsDeep intracerebral hemorrhageSmall vessel diseaseCerebral small vessel diseaseIntracerebral hemorrhageWhite matter hyperintensitiesVessel diseaseIschemic strokeSingle nucleotide polymorphismsMatter hyperintensitiesSymptomatic small vessel diseaseSporadic cerebral small vessel diseaseWhite matter hyperintensity volumeLacunar ischemic strokeIschemic stroke patientsPopulation-based studySymptomatic ischemic stroke patientsCOL4A1/COL4A2Common single nucleotide polymorphismsDirection of associationCommon variationStroke patientsHyperintensity volumeSporadic formsHemorrhageCerebrovascular phenotypes
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 ResearchAccuracy 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 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 ResearchBurden 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 ResearchMeSH KeywordsAgedAllelesCase-Control StudiesFemaleGenetic Predisposition to DiseaseGenotypeHumansHypertensionIntracranial Hemorrhage, HypertensiveMalePolymorphism, Single NucleotideRisk FactorsConceptsRisk 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