Sökning: onr:"swepub:oai:lup.lub.lu.se:09e4fb26-3135-4d8f-ae83-c8c40e1b0c21" >
17p12 Influences He...
17p12 Influences Hematoma Volume and Outcome in Spontaneous Intracerebral Hemorrhage
-
- Marini, Sandro (författare)
- Massachusetts General Hospital
-
- Devan, William J. (författare)
- Massachusetts General Hospital
-
- Radmanesh, Farid (författare)
- Massachusetts General Hospital
-
visa fler...
-
- Miyares, Laura (författare)
- Yale University,Massachusetts General Hospital
-
- Poterba, Timothy (författare)
- Harvard University
-
- 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
-
- Norrving, Bo (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital
-
- Jimenez-Conde, Jordi (författare)
- Hospital del Mar Medical Research Institute
-
- Giralt-Steinhauer, Eva (författare)
- Hospital del Mar Medical Research Institute
-
- Elosua, Roberto (författare)
- Hospital del Mar Medical Research Institute
-
- Cuadrado-Godia, Elisa (författare)
- Hospital del Mar Medical Research Institute
-
- Soriano, Carolina (författare)
- Hospital del Mar Medical Research Institute
-
- Roquer, Jaume (författare)
- Hospital del Mar Medical Research Institute
-
- Kourkoulis, Christina E. (författare)
- Massachusetts General Hospital
-
- Ayres, Alison M. (författare)
- Autonomous University of Barcelona,Massachusetts General Hospital
-
- Schwab, Kristin (författare)
- Massachusetts General Hospital,Autonomous University of Barcelona
-
- Tirschwell, David L. (författare)
- University of Washington
-
- Selim, Magdy (författare)
- Beth Israel Deaconess Medical Center
-
- Brown, Devin L. (författare)
- University of Michigan
-
- Silliman, Scott L. (författare)
- University of Florida
-
- Worrall, Bradford B. (författare)
- University of Virginia Health System
-
- Meschia, James F. (författare)
- Mayo Clinic Florida
-
- Kidwell, Chelsea S. (författare)
- University of Arizona
-
- Montaner, Joan (författare)
- Vall d'Hebron University Hospital
-
- Fernandez-Cadenas, Israel (författare)
- Hospital de Sant Pau,Vall d'Hebron University Hospital
-
- Delgado, Pilar (författare)
- Vall d'Hebron University Hospital
-
- Greenberg, Steven M. (författare)
- Massachusetts General Hospital,Autonomous University of Barcelona
-
- Lindgren, Arne (författare)
- Lund University,Lunds universitet,Klinisk strokeforskning,Forskargrupper vid Lunds universitet,Clinical Stroke Research Group,Lund University Research Groups,Skåne University Hospital
-
- Matouk, Charles (författare)
- Yale University,Massachusetts General Hospital
-
- Sheth, Kevin N. (författare)
- Yale University,Massachusetts General Hospital
-
- Woo, Daniel (författare)
- University of Cincinnati
-
- Anderson, Christopher D. (författare)
- Broad Institute,Massachusetts General Hospital
-
- Rosand, Jonathan (författare)
- Broad Institute,Massachusetts General Hospital
-
- Falcone, Guido J. (författare)
- Yale University,Massachusetts General Hospital
-
visa färre...
-
(creator_code:org_t)
- 2018
- 2018
- Engelska 8 s.
-
Ingår i: Stroke. - 0039-2499. ; 49:7, s. 1618-1625
- Relaterad länk:
-
http://dx.doi.org/10...
-
visa fler...
-
https://lup.lub.lu.s...
-
https://doi.org/10.1...
-
visa färre...
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
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
Hitta via bibliotek
-
Stroke
(Sök värdpublikationen i LIBRIS)
Till lärosätets databas
- Av författaren/redakt...
-
Marini, Sandro
-
Devan, William J ...
-
Radmanesh, Farid
-
Miyares, Laura
-
Poterba, Timothy
-
Hansen, Björn M.
-
visa fler...
-
Norrving, Bo
-
Jimenez-Conde, J ...
-
Giralt-Steinhaue ...
-
Elosua, Roberto
-
Cuadrado-Godia, ...
-
Soriano, Carolin ...
-
Roquer, Jaume
-
Kourkoulis, Chri ...
-
Ayres, Alison M.
-
Schwab, Kristin
-
Tirschwell, Davi ...
-
Selim, Magdy
-
Brown, Devin L.
-
Silliman, Scott ...
-
Worrall, Bradfor ...
-
Meschia, James F ...
-
Kidwell, Chelsea ...
-
Montaner, Joan
-
Fernandez-Cadena ...
-
Delgado, Pilar
-
Greenberg, Steve ...
-
Lindgren, Arne
-
Matouk, Charles
-
Sheth, Kevin N.
-
Woo, Daniel
-
Anderson, Christ ...
-
Rosand, Jonathan
-
Falcone, Guido J ...
-
visa färre...
- Om ämnet
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Klinisk medicin
-
och Neurologi
-
- MEDICIN OCH HÄLSOVETENSKAP
-
MEDICIN OCH HÄLS ...
-
och Medicinska och f ...
-
och Medicinsk geneti ...
- Artiklar i publikationen
-
Stroke
- Av lärosätet
-
Lunds universitet