2026-05-04T16:55:45Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/233012024-11-28T16:48:25Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16958col_20.500.12105_16966col_20.500.12105_16967col_20.500.12105_16976col_20.500.12105_16983col_20.500.12105_16972
Repisalud
author
Muiño, Elena
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Carcel-Marquez, Jara
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Carrera, Caty
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Llucia-Carol, Laia
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Gallego-Fabrega, Cristina
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Cullell, Natalia
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Lledos, Miquel
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Castillo, Jose
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Sobrino, Tomas
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Campos, Francisco
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Rodriguez-Castro, Emilio
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Millan, Monica
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Muñoz-Narbona, Lucia
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Bustamante, Alejandro
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Lopez-Cancio, Elena
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Ribo, Marc
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Alvarez-Sabin, Jose
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Jimenez-Conde, Jordi
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Roquer, Jaume
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Giralt-Steinhauer, Eva
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Soriano-Tarraga, Carolina
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Vives-Bauza, Cristofol
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Diaz Navarro, Rosa
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Tur Campos, Silvia
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Obach, Victor
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Arenillas, Juan Francisco
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Segura, Tomas
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Serrano-Heras, Gemma
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Marti-Fabregas, Joan
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Delgado-Mederos, Raquel
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Camps-Renom, Pol
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Prats-Sanchez, Luis
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Guisado, Daniel
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Guasch, Marina
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Marin, Rebeca
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Martinez-Domeno, Alejandro
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Freijo Guerrero, Maria del Mar
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Moniche, Francisco
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Cabezas, Juan Antonio
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Castellanos, Mar
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Krupinsky, Jerzy
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Strbian, Daniel
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Tatlisumak, Turgut
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Thijs, Vincent
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Lemmens, Robin
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Slowik, Agnieszka
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Pera, Joanna
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Heitsch, Laura
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Ibañez, Laura
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Cruchaga, Carlos
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Dhar, Rajat
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Lee, Jin-Moo
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Montaner, Joan
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Fernandez-Cadenas, Israel
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International Stroke Genetic Consortium
author
Spanish Stroke Genetic Consortium
2024-09-18T06:43:57Z
2024-09-18T06:43:57Z
2021-07
Muino E, Carcel-Marquez J, Carrera C, Llucia-Carol L, Gallego-Fabrega C, Cullell N, et al. RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis. J Clin Med. 2021 Jul;10(14):3137.
10.3390/jcm10143137
2077-0383
Journal of Clinical Medicine
https://hdl.handle.net/20.500.13003/19802
34300314
L2007816849
2-s2.0-85114075653
https://hdl.handle.net/20.500.12105/23301
676723600001
Stroke is one of the most common causes of death and disability. Reperfusion therapies are the only treatment available during the acute phase of stroke. Due to recent clinical trials, these therapies may increase their frequency of use by extending the time-window administration, which may lead to an increase in complications such as hemorrhagic transformation, with parenchymal hematoma (PH) being the more severe subtype, associated with higher mortality and disability rates. Our aim was to find genetic risk factors associated with PH, as that could provide molecular targets/pathways for their prevention/treatment and study its genetic correlations to find traits sharing genetic background. We performed a GWAS and meta-analysis, following standard quality controls and association analysis (fastGWAS), adjusting age, NIHSS, and principal components. FUMA was used to annotate, prioritize, visualize, and interpret the meta-analysis results. The total number of patients in the meta-analysis was 2034 (216 cases and 1818 controls). We found rs79770152 having a genome-wide significant association (beta 0.09, p-value 3.90 x 10(-8)) located in the RP11-362K2.2:RP11-767I20.1 gene and a suggestive variant (rs13297983: beta 0.07, p-value 6.10 x 10(-8)) located in PCSK5 associated with PH occurrence. The genetic correlation showed a shared genetic background of PH with Alzheimer's disease and white matter hyperintensities. In addition, genes containing the ten most significant associations have been related to aggregated amyloid-beta, tau protein, white matter microstructure, inflammation, and matrix metalloproteinases.
eng
Hemorrhagic transformation
Parenchymal hematoma
GWAS
Single nucleotide variants
RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis
research article