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17p12 Influences He...
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Marini, SandroMassachusetts General Hospital
(author)
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
- Article/chapterEnglish2018
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LIBRIS-ID:oai:lup.lub.lu.se:09e4fb26-3135-4d8f-ae83-c8c40e1b0c21
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https://lup.lub.lu.se/record/09e4fb26-3135-4d8f-ae83-c8c40e1b0c21URI
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https://doi.org/10.1161/STROKEAHA.117.020091DOI
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Background and Purpose-Hematoma volume is an important determinant of clinical outcome in spontaneous intracerebral hemorrhage (ICH). We performed a genome-wide association study (GWAS) of hematoma volume with the aim of identifying novel biological pathways involved in the pathophysiology of primary brain injury in ICH. Methods-We conducted a 2-stage (discovery and replication) case-only genome-wide association study in patients with ICH of European ancestry. We utilized the admission head computed tomography to calculate hematoma volume via semiautomated computer-Assisted technique. After quality control and imputation, 7 million genetic variants were available for association testing with ICH volume, which was performed separately in lobar and nonlobar ICH cases using linear regression. Signals with P<5×10- 8 were pursued in replication and tested for association with admission Glasgow coma scale and 3-month post-ICH dichotomized (0-2 versus 3-6) modified Rankin Scale using ordinal and logistic regression, respectively. Results-The discovery phase included 394 ICH cases (228 lobar and 166 nonlobar) and identified 2 susceptibility loci: A genomic region on 22q13 encompassing PARVB (top single-nucleotide polymorphism rs9614326: β, 1.84; SE, 0.32; P=4.4×10-8) for lobar ICH volume and an intergenic region overlying numerous copy number variants on 17p12 (top single-nucleotide polymorphism rs11655160: β, 0.95; SE, 0.17; P=4.3×10-8) for nonlobar ICH volume. The replication included 240 ICH cases (71 lobar and 169 nonlobar) and corroborated the association for 17p12 (P=0.04; meta-Analysis P=2.5×10-9; heterogeneity, P=0.16) but not for 22q13 (P=0.49). In multivariable analysis, rs11655160 was also associated with lower admission Glasgow coma scale (odds ratio, 0.17; P=0.004) and increased risk of poor 3-month modified Rankin Scale (odds ratio, 1.94; P=0.045). Conclusions-We identified 17p12 as a novel susceptibility risk locus for hematoma volume, clinical severity, and functional outcome in nonlobar ICH. Replication in other ethnicities and follow-up translational studies are needed to elucidate the mechanism mediating the observed association.
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Devan, William J.Massachusetts General Hospital
(author)
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Radmanesh, FaridMassachusetts General Hospital
(author)
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Miyares, LauraYale University,Massachusetts General Hospital
(author)
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Poterba, TimothyHarvard University
(author)
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Hansen, Björn M.Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital(Swepub:lu)med-bhe
(author)
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Norrving, BoLund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital(Swepub:lu)neur-bno
(author)
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Jimenez-Conde, JordiHospital del Mar Medical Research Institute
(author)
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Giralt-Steinhauer, EvaHospital del Mar Medical Research Institute
(author)
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Elosua, RobertoHospital del Mar Medical Research Institute
(author)
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Cuadrado-Godia, ElisaHospital del Mar Medical Research Institute
(author)
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Soriano, CarolinaHospital del Mar Medical Research Institute
(author)
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Roquer, JaumeHospital del Mar Medical Research Institute
(author)
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Kourkoulis, Christina E.Massachusetts General Hospital
(author)
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Ayres, Alison M.Autonomous University of Barcelona,Massachusetts General Hospital
(author)
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Schwab, KristinAutonomous University of Barcelona,Massachusetts General Hospital
(author)
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Tirschwell, David L.University of Washington
(author)
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Selim, MagdyBeth Israel Deaconess Medical Center
(author)
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Brown, Devin L.University of Michigan
(author)
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Silliman, Scott L.University of Florida
(author)
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Worrall, Bradford B.University of Virginia Health System
(author)
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Meschia, James F.Mayo Clinic Florida
(author)
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Kidwell, Chelsea S.University of Arizona
(author)
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Montaner, JoanVall d'Hebron University Hospital
(author)
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Fernandez-Cadenas, IsraelVall d'Hebron University Hospital,Hospital de Sant Pau
(author)
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Delgado, PilarVall d'Hebron University Hospital
(author)
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Greenberg, Steven M.Massachusetts General Hospital,Autonomous University of Barcelona
(author)
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Lindgren, ArneLund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital(Swepub:lu)neur-ali
(author)
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Matouk, CharlesMassachusetts General Hospital,Yale University
(author)
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Sheth, Kevin N.Yale University,Massachusetts General Hospital
(author)
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Woo, DanielUniversity of Cincinnati
(author)
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Anderson, Christopher D.Massachusetts General Hospital,Broad Institute
(author)
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Rosand, JonathanBroad Institute,Massachusetts General Hospital
(author)
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Falcone, Guido J.Yale University,Massachusetts General Hospital
(author)
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Massachusetts General HospitalYale University
(creator_code:org_t)
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In:Stroke49:7, s. 1618-16250039-2499
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Devan, William J ...
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Radmanesh, Farid
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Miyares, Laura
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Poterba, Timothy
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Hansen, Björn M.
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Norrving, Bo
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Jimenez-Conde, J ...
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Roquer, Jaume
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Selim, Magdy
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