2021
Mendelian Randomization in Stroke: A Powerful Approach to Causal Inference and Drug Target Validation
Acosta JN, Szejko N, Falcone GJ. Mendelian Randomization in Stroke: A Powerful Approach to Causal Inference and Drug Target Validation. Frontiers In Genetics 2021, 12: 683082. PMID: 34456968, PMCID: PMC8387928, DOI: 10.3389/fgene.2021.683082.Peer-Reviewed Original ResearchMendelian randomizationCardiovascular risk factorsRisk of strokeAvailable treatment optionsInflammation-related mechanismsIschemic strokeHemorrhagic strokeTreatment optionsRisk factorsLeading causeCurrent evidenceTherapeutic targetStrokeMR studiesNovel biological pathwaysDrug repurposingDrug developmentDrug target validationRandomizationTarget validationExposureBiological pathwaysCausal relationshipDisease
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