2016
Low-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
Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy
Shoamanesh A, Martinez-Ramirez S, Oliveira-Filho J, Reijmer Y, Falcone GJ, Ayres A, Schwab K, Goldstein JN, Rosand J, Gurol ME, Viswanathan A, Greenberg SM. Interrelationship of superficial siderosis and microbleeds in cerebral amyloid angiopathy. Neurology 2014, 83: 1838-1843. PMID: 25320098, PMCID: PMC4240429, DOI: 10.1212/wnl.0000000000000984.Peer-Reviewed Original ResearchConceptsCortical superficial siderosisCerebral amyloid angiopathyCMB countCerebral microbleedsSuperficial siderosisAmyloid angiopathyΕ4 allele frequencyCross-sectional analysisCSS presenceAPOE genotypeAPOE ε4MRI scansAngiopathyMicrobleedsSiderosisCountSeverityGenetic associationLongitudinal research studyCS relativeDistinct patternsAllele frequenciesSubjectsIndividualsTertile