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, 55: 2835-2843. 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 variants
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
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 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 ResearchConceptsIndividual 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
2014
Current concepts and clinical applications of stroke genetics
Falcone GJ, Malik R, Dichgans M, Rosand J. Current concepts and clinical applications of stroke genetics. The Lancet Neurology 2014, 13: 405-418. PMID: 24646874, DOI: 10.1016/s1474-4422(14)70029-8.Peer-Reviewed Original Research
2013
Heritability 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