2022
Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits
Pathak GA, Singh K, Wendt FR, Fleming TW, Overstreet C, Koller D, Tylee DS, De Angelis F, Cabrera Mendoza B, Levey DF, Koenen KC, Krystal JH, Pietrzak RH, O’ Donell C, Gaziano JM, Falcone G, Stein MB, Gelernter J, Pasaniuc B, Mancuso N, Davis LK, Polimanti R. Genetically regulated multi-omics study for symptom clusters of posttraumatic stress disorder highlights pleiotropy with hematologic and cardio-metabolic traits. Molecular Psychiatry 2022, 27: 1394-1404. PMID: 35241783, PMCID: PMC9210390, DOI: 10.1038/s41380-022-01488-9.Peer-Reviewed Original ResearchConceptsLocal genetic correlationsCell type-specific expressionVanderbilt University biorepositoryMulti-omics studiesMulti-omics investigationsDorsolateral prefrontal cortex tissueGenomic evidenceLaboratory traitsSpecific expressionCardio-metabolic traitsMillion Veteran ProgramPrefrontal cortex tissueMiR-148GenesGenetic correlationsRegulatory profileTraitsProtein expressionCardiometabolic traitsExpressionVeteran ProgramCortex tissueBiological heterogeneitySplicingPrioritization approach
2018
Multiancestry 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 Research
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
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