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RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis

Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain
Neurovascular Research Laboratory, VHIR, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain
Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain
Stroke Pharmacogenomics and Genetics, Fundació MútuaTerrassa per la Docència i la Recerca, 08221 Terrassa, Spain
Clinical Neurosciences Research Laboratories, Health Research Institute of Santiago de Compostela (IDIS), 15706 Santiago de Compostela, Spain
Department of Neurology, CHUS, 15706 Santiago de Compostela, Spain
Department of Neuroscience, HUGTP, 08025 Badalona, Spain
Stroke Unit, HUCA, 33011 Oviedo, Spain
Stroke Unit, HUVH, 08025 Barcelona, Spain
Department of Neurology, HUVH, UAB, 08025 Barcelona, Spain
Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, 08025 Barcelona, Spain
Neurobiology Laboratory, IdISPa, 07120 Mallorca, Spain
Department of Neurology, HUSE, 07120 Mallorca, Spain
Department of Neurology, Hospital Clínic i Provincial de Barcelona, 08025 Barcelona, Spain
Department of Neurology, Hospital Clínico Universitario, University of Valladolid, 47003 Valladolid, Spain
Department of Neurology, CHUA, 02006 Albacete, Spain
Experimental Research Unit, CHUA, 02006 Albacete, Spain
Neurovascular Unit, Biocruces Bizkaia Health Research Institute, 48903 Bilbao, Spain
Department of Neurology, Virgen del Rocío, IBIS, 41013 Seville, Spain
Department of Neurology, CHUAC, 15006 A Coruña, Spain
School of Healthcare Science, Manchester Metropolitan University, Manchester M15 6BH, UK
Neurology Unit, Hospital Universitari Mútua Terrassa, 08221 Terrassa, Spain
Department of Neurology, Helsinki University Hospital, FI-00029 Helsinki, Finland
Department of Clinical Neuroscience, Institute of Neurosciences and Physiology, Sahlgrenska Academy at University of Gothenburg, 41345 Gothenburg, Sweden
Department of Neurology, Sahlgrenska University Hospital, 41345 Gothenburg, Sweden
Stroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, VIC 3072, Australia
Department of Neurology, Austin Health, Heidelberg, VIC 3072, Australia
Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, 3000 Leuven, Belgium
Department of Neurology, Jagiellonian University Medical College, 31-007 Kraków, Poland
Division of Emergency Medicine, Washington University School of Medicine, St. Louis, MO 63110-1010, USA
Department of Neurology, Washington University School of Medicine, St. Louis MO 63110-1010, USA
Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110-1010, USA
Author to whom correspondence should be addressed.
E.M. and J.C.-M. contributed equally to this work.
Academic Editor: Hyo Suk Nam
J. Clin. Med. 2021, 10(14), 3137;
Received: 7 June 2021 / Revised: 5 July 2021 / Accepted: 14 July 2021 / Published: 16 July 2021
(This article belongs to the Special Issue Thrombolysis and Thrombectomy in Acute Ischemic Stroke)
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. View Full-Text
Keywords: hemorrhagic transformation; parenchymal hematoma; GWAS; single nucleotide variants hemorrhagic transformation; parenchymal hematoma; GWAS; single nucleotide variants
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MDPI and ACS Style

Muiño, E.; Cárcel-Márquez, J.; Carrera, C.; Llucià-Carol, L.; Gallego-Fabrega, C.; Cullell, N.; Lledós, M.; Castillo, J.; Sobrino, T.; Campos, F.; Rodríguez-Castro, E.; Millán, M.; Muñoz-Narbona, L.; Bustamante, A.; López-Cancio, E.; Ribó, M.; Álvarez-Sabín, J.; Jiménez-Conde, J.; Roquer, J.; Giralt-Steinhauer, E.; Soriano-Tárraga, C.; Vives-Bauza, C.; Díaz-Navarro, R.; Tur, S.; Obach, V.; Arenillas, J.F.; Segura, T.; Serrano-Heras, G.; Martí-Fàbregas, J.; Delgado-Mederos, R.; Camps-Renom, P.; Prats-Sánchez, L.; Guisado, D.; Guasch, M.; Marin, R.; Martínez-Domeño, A.; Freijo-Guerrero, M.d.M.; Moniche, F.; Cabezas, J.A.; Castellanos, M.; Krupinsky, J.; Strbian, D.; Tatlisumak, T.; Thijs, V.; Lemmens, R.; Slowik, A.; Pera, J.; Heitsch, L.; Ibañez, L.; Cruchaga, C.; Dhar, R.; Lee, J.-M.; Montaner, J.; Fernández-Cadenas, I.; Consortium, o.b.o.I.S.G.; Consortium, t.S.S.G. RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis. J. Clin. Med. 2021, 10, 3137.

AMA Style

Muiño E, Cárcel-Márquez J, Carrera C, Llucià-Carol L, Gallego-Fabrega C, Cullell N, Lledós M, Castillo J, Sobrino T, Campos F, Rodríguez-Castro E, Millán M, Muñoz-Narbona L, Bustamante A, López-Cancio E, Ribó M, Álvarez-Sabín J, Jiménez-Conde J, Roquer J, Giralt-Steinhauer E, Soriano-Tárraga C, Vives-Bauza C, Díaz-Navarro R, Tur S, Obach V, Arenillas JF, Segura T, Serrano-Heras G, Martí-Fàbregas J, Delgado-Mederos R, Camps-Renom P, Prats-Sánchez L, Guisado D, Guasch M, Marin R, Martínez-Domeño A, Freijo-Guerrero MdM, Moniche F, Cabezas JA, Castellanos M, Krupinsky J, Strbian D, Tatlisumak T, Thijs V, Lemmens R, Slowik A, Pera J, Heitsch L, Ibañez L, Cruchaga C, Dhar R, Lee J-M, Montaner J, Fernández-Cadenas I, Consortium oboISG, Consortium tSSG. RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis. Journal of Clinical Medicine. 2021; 10(14):3137.

Chicago/Turabian Style

Muiño, Elena, 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 F. 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 d.M. Freijo-Guerrero, Francisco Moniche, Juan A. 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 b.o.I.S.G. Consortium, and the S.S.G. Consortium. 2021. "RP11-362K2.2:RP11-767I20.1 Genetic Variation Is Associated with Post-Reperfusion Therapy Parenchymal Hematoma. A GWAS Meta-Analysis" Journal of Clinical Medicine 10, no. 14: 3137.

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