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 ResearchConceptsPost-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
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 ResearchConceptsIntracerebral 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
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
Common 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 ResearchConceptsDeep 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
Accuracy 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
Burden 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