RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis
| Autor: | Elena Muiño, Jara Cárcel-Márquez, Caty Carrera, Laia Llucià-Carol, Cristina Gallego-Fabrega, Natalia Cullell, Miquel Lledós, José Castillo, Tomás Sobrino, Francisco Campos, Emilio Rodríguez-Castro, Mònica Millán, Lucía Muñoz-Narbona, Alejandro Bustamante, Elena López-Cancio, Marc Ribó, José Álvarez-Sabín, Jordi Jiménez-Conde, Jaume Roquer, Eva Giralt-Steinhauer, Carolina Soriano-Tárraga, Cristófol Vives-Bauza, Rosa Díaz-Navarro, Silvia Tur, Victor Obach, Juan Arenillas, Tomás Segura, Gemma Serrano-Heras, Joan Martí-Fàbregas, Raquel Delgado-Mederos, Pol Camps-Renom, Luis Prats-Sánchez, Daniel Guisado, Marina Guasch, Rebeca Marin, Alejandro Martínez-Domeño, Maria Freijo-Guerrero, Francisco Moniche, Juan Cabezas, Mar Castellanos, Jerzy Krupinsky, Daniel Strbian, Turgut Tatlisumak, Vincent Thijs, Robin Lemmens, Agnieszka Slowik, Joanna Pera, Laura Heitsch, Laura Ibañez, Carlos Cruchaga, Rajat Dhar, Jin-Moo Lee, Joan Montaner, Israel Fernández-Cadenas, on Consortium, the Consortium |
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| Přispěvatelé: | Institut Català de la Salut, [Muiño E, Cárcel-Márquez J, Llucià-Carol L] Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain. [Carrera C] Laboratori de Recerca Neurovascular, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Gallego-Fabrega C] Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain. Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain. [Cullell N] Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain. Stroke Pharmacogenomics and Genetics, Fundació MútuaTerrassa per la Docència i la Recerca, 08221 Terrassa, Spain. [Ribó M] Unitat d'Ictus, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Álvarez-Sabín J] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Neurologia, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Instituto de Salud Carlos III, European Commission, Fundació La Marató de TV3, Agència de Gestió d'Ajuts Universitaris i de Recerca, Neurologian yksikkö, HUS Neurocenter |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Oncology Parenchymal hematoma Genoma humano Malalties cerebrovasculars - Tractament Genome-wide association study Disease Other subheadings::Other subheadings::/drug therapy [Other subheadings] Otros calificadores::Otros calificadores::/efectos adversos [Otros calificadores] 3124 Neurology and psychiatry DISEASE 0302 clinical medicine GWAS Stroke RISK Genome-wide association study (GWAS) Genomics General Medicine parenchymal hematoma 3. Good health Meta-analysis Medicine DETERIORATION Life Sciences & Biomedicine ACUTE STROKE medicine.medical_specialty Genómica education single nucleotide variants Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores] enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::trastornos cerebrovasculares::accidente cerebrovascular [ENFERMEDADES] Genetic correlation Article 03 medical and health sciences Medicine General & Internal 32 Ciencias Médicas Internal medicine General & Internal Medicine Genetic variation medicine Other subheadings::Other subheadings::/adverse effects [Other subheadings] cardiovascular diseases GENOME-WIDE ASSOCIATION Genetic association THROMBOLYSIS Science & Technology técnicas de investigación::perfusión::reperfusión [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS] Reperfusió miocardíaca - Complicacions business.industry Hemorrhagic transformation medicine.disease Hyperintensity MODEL hemorrhagic transformation Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebrovascular Disorders::Stroke [DISEASES] 030104 developmental biology Single nucleotide variants Investigative Techniques::Perfusion::Reperfusion [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT] business 030217 neurology & neurosurgery |
| Zdroj: | Scientia Digital.CSIC. Repositorio Institucional del CSIC instname Journal of Clinical Medicine Volume 10 Issue 14 r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau Instituto de Salud Carlos III (ISCIII) r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol Journal of Clinical Medicine, Vol 10, Iss 3137, p 3137 (2021) |
| ISSN: | 2077-0383 |
| Popis: | Producción Científica 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. Instituto de Salud Carlos III y Fondo Europeo de Desarrollo Regional (FEDER) - ( Projects PI 11/0176 and PI18/01338) Instituto de Salud Carlos III - (Project CM18/00198) Agencia de Gestión de Ayudas Universitarias y de Investigación (AGAUR) y Fondo Social Europeo - (Grant 2020FI_B1 00157) Instituto de Salud Carlos III y Fondo Europeo de Desarrollo Regional (FEDER) - (Project CD20/00043) Instituto de Salud Carlos III - (Projects FI19/00309, CP12/03298, CPII17/00027, CPII19/00020) |
| Databáze: | OpenAIRE |
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