RT info:eu-repo/semantics/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 Sánchez, José
A1 Sobrino Moreiras, Tomás
A1 Campos Pérez, 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 Lara, Juan Francisco
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, María del Mar
A1 Moniche, Francisco
A1 Cabezas, Juan Antonio
A1 Castellanos Rodríguez, María del 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
A1 Consortium, the
K1 Genoma humano
K1 Genomics
K1 Genómica
K1 Hemorrhagic transformation
K1 Parenchymal hematoma
K1 Genome-wide association study (GWAS)
K1 Single nucleotide variants
K1 32 Ciencias Médicas
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.
PB MDPI
SN 2077-0383
YR 2021
FD 2021
LK https://uvadoc.uva.es/handle/10324/59473
UL https://uvadoc.uva.es/handle/10324/59473
LA eng
NO Journal of Clinical Medicine, 2021, Vol. 10, Nº. 14, 3137
NO Producción Científica
DS UVaDOC
RD 17-jul-2024