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17p12 Influences He...
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
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- Marini, Sandro (författare)
- Massachusetts General Hospital
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- Devan, William J. (författare)
- Massachusetts General Hospital
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- Radmanesh, Farid (författare)
- Massachusetts General Hospital
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- Miyares, Laura (författare)
- Yale University,Massachusetts General Hospital
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- Poterba, Timothy (författare)
- Harvard University
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- Hansen, Björn M. (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital
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- Norrving, Bo (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital
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- Jimenez-Conde, Jordi (författare)
- Hospital del Mar Medical Research Institute
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- Giralt-Steinhauer, Eva (författare)
- Hospital del Mar Medical Research Institute
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- Elosua, Roberto (författare)
- Hospital del Mar Medical Research Institute
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- Cuadrado-Godia, Elisa (författare)
- Hospital del Mar Medical Research Institute
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- Soriano, Carolina (författare)
- Hospital del Mar Medical Research Institute
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- Roquer, Jaume (författare)
- Hospital del Mar Medical Research Institute
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- Kourkoulis, Christina E. (författare)
- Massachusetts General Hospital
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- Ayres, Alison M. (författare)
- Autonomous University of Barcelona,Massachusetts General Hospital
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- Schwab, Kristin (författare)
- Autonomous University of Barcelona,Massachusetts General Hospital
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- Tirschwell, David L. (författare)
- University of Washington
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- Selim, Magdy (författare)
- Beth Israel Deaconess Medical Center
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- Brown, Devin L. (författare)
- University of Michigan
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- Silliman, Scott L. (författare)
- University of Florida
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- Worrall, Bradford B. (författare)
- University of Virginia Health System
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- Meschia, James F. (författare)
- Mayo Clinic Florida
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- Kidwell, Chelsea S. (författare)
- University of Arizona
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- Montaner, Joan (författare)
- Vall d'Hebron University Hospital
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- Fernandez-Cadenas, Israel (författare)
- Vall d'Hebron University Hospital,Hospital de Sant Pau
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- Delgado, Pilar (författare)
- Vall d'Hebron University Hospital
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- Greenberg, Steven M. (författare)
- Massachusetts General Hospital,Autonomous University of Barcelona
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- Lindgren, Arne (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital
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- Matouk, Charles (författare)
- Massachusetts General Hospital,Yale University
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- Sheth, Kevin N. (författare)
- Yale University,Massachusetts General Hospital
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- Woo, Daniel (författare)
- University of Cincinnati
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- Anderson, Christopher D. (författare)
- Massachusetts General Hospital,Broad Institute
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- Rosand, Jonathan (författare)
- Broad Institute,Massachusetts General Hospital
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- Falcone, Guido J. (författare)
- Yale University,Massachusetts General Hospital
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(creator_code:org_t)
- 2018
- 2018
- Engelska 8 s.
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Ingår i: Stroke. - 0039-2499. ; 49:7, s. 1618-1625
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- cerebral hemorrhage
- genetics
- genome-wide association study
- humans
- neuroimaging
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- art (ämneskategori)
- ref (ämneskategori)
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Stroke
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Marini, Sandro
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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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visa fler...
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Norrving, Bo
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Jimenez-Conde, J ...
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Giralt-Steinhaue ...
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Elosua, Roberto
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Cuadrado-Godia, ...
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Soriano, Carolin ...
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Roquer, Jaume
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Kourkoulis, Chri ...
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Ayres, Alison M.
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Schwab, Kristin
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Tirschwell, Davi ...
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Selim, Magdy
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Brown, Devin L.
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Silliman, Scott ...
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Worrall, Bradfor ...
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Meschia, James F ...
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Kidwell, Chelsea ...
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Montaner, Joan
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Fernandez-Cadena ...
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Delgado, Pilar
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Greenberg, Steve ...
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Lindgren, Arne
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Matouk, Charles
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Sheth, Kevin N.
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Woo, Daniel
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Anderson, Christ ...
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Rosand, Jonathan
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Falcone, Guido J ...
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och Neurologi
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