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 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
2015
Rare 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 ResearchConceptsGenome-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
Meta-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 ResearchConceptsIntracerebral 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 vesselsNonlobar