RT Journal Article
T1 RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis.
A1 Muiño, Elena
A1 Cárcel-Márquez, Jara
A1 Carrera, Caty
A1 Llucià-Carol, Laia
A1 Gallego-Fabrega, Cristina
A1 Cullell, Natalia
A1 Lledós, Miquel
A1 Castillo, José
A1 Sobrino, Tomás
A1 Campos, Francisco
A1 Rodríguez-Castro, Emilio
A1 Millán, Mònica
A1 Muñoz-Narbona, Lucía
A1 Bustamante, Alejandro
A1 López-Cancio, Elena
A1 Ribó, Marc
A1 Álvarez-Sabín, José
A1 Jiménez-Conde, Jordi
A1 Roquer, Jaume
A1 Giralt-Steinhauer, Eva
A1 Soriano-Tárraga, Carolina
A1 Vives-Bauza, Cristófol
A1 Díaz-Navarro, Rosa
A1 Tur, Silvia
A1 Obach, Victor
A1 Arenillas, Juan F
A1 Segura, Tomás
A1 Serrano-Heras, Gemma
A1 Martí-Fàbregas, Joan
A1 Delgado-Mederos, Raquel
A1 Camps-Renom, Pol
A1 Prats-Sánchez, Luis
A1 Guisado, Daniel
A1 Guasch, Marina
A1 Marin, Rebeca
A1 Martínez-Domeño, Alejandro
A1 Freijo-Guerrero, Maria Del Mar
A1 Moniche, Francisco
A1 Cabezas, Juan Antonio
A1 Castellanos, Mar
A1 Krupinsky, Jerzy
A1 Strbian, Daniel
A1 Tatlisumak, Turgut
A1 Thijs, Vincent
A1 Lemmens, Robin
A1 Slowik, Agnieszka
A1 Pera, Joanna
A1 Heitsch, Laura
A1 Ibañez, Laura
A1 Cruchaga, Carlos
A1 Dhar, Rajat
A1 Lee, Jin-Moo
A1 Montaner, Joan
A1 Fernández-Cadenas, Israel
A1 Consortium, On Behalf Of International Stroke Genetic
A1 Consortium, The Spanish Stroke Genetic
K1 GWAS
K1 hemorrhagic transformation
K1 parenchymal hematoma
K1 single nucleotide variants
AB 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 × 10-8) located in the RP11-362K2.2:RP11-767I20.1 gene and a suggestive variant (rs13297983: beta 0.07, p-value 6.10 × 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-β, tau protein, white matter microstructure, inflammation, and matrix metalloproteinases.
SN 2077-0383
YR 2021
FD 2021-07-16
LK http://hdl.handle.net/10668/18251
UL http://hdl.handle.net/10668/18251
LA en
DS RISalud
RD Apr 7, 2025