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

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Stroke Pharmacogenomics and Genetics Group, Institut de Recerca de l’Hospital de la Santa Creu i Sant Pau, 08041 Barcelona, Spain
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Neurovascular Research Laboratory, VHIR, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain
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Department of Neurology, Hospital de la Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain
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Stroke Pharmacogenomics and Genetics, Fundació MútuaTerrassa per la Docència i la Recerca, 08221 Terrassa, Spain
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Clinical Neurosciences Research Laboratories, Health Research Institute of Santiago de Compostela (IDIS), 15706 Santiago de Compostela, Spain
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Department of Neurology, CHUS, 15706 Santiago de Compostela, Spain
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Department of Neuroscience, HUGTP, 08025 Badalona, Spain
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Stroke Unit, HUCA, 33011 Oviedo, Spain
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Stroke Unit, HUVH, 08025 Barcelona, Spain
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Department of Neurology, HUVH, UAB, 08025 Barcelona, Spain
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Department of Neurology, Neurovascular Research Group, IMIM-Hospital del Mar, 08025 Barcelona, Spain
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Neurobiology Laboratory, IdISPa, 07120 Mallorca, Spain
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Department of Neurology, HUSE, 07120 Mallorca, Spain
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Department of Neurology, Hospital Clínic i Provincial de Barcelona, 08025 Barcelona, Spain
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Department of Neurology, Hospital Clínico Universitario, University of Valladolid, 47003 Valladolid, Spain
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Department of Neurology, CHUA, 02006 Albacete, Spain
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Experimental Research Unit, CHUA, 02006 Albacete, Spain
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Neurovascular Unit, Biocruces Bizkaia Health Research Institute, 48903 Bilbao, Spain
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Department of Neurology, Virgen del Rocío, IBIS, 41013 Seville, Spain
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Department of Neurology, CHUAC, 15006 A Coruña, Spain
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School of Healthcare Science, Manchester Metropolitan University, Manchester M15 6BH, UK
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Neurology Unit, Hospital Universitari Mútua Terrassa, 08221 Terrassa, Spain
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Department of Neurology, Helsinki University Hospital, FI-00029 Helsinki, Finland
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Department of Clinical Neuroscience, Institute of Neurosciences and Physiology, Sahlgrenska Academy at University of Gothenburg, 41345 Gothenburg, Sweden
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Department of Neurology, Sahlgrenska University Hospital, 41345 Gothenburg, Sweden
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Stroke Division, Florey Institute of Neuroscience and Mental Health, University of Melbourne, Heidelberg, VIC 3072, Australia
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Department of Neurology, Austin Health, Heidelberg, VIC 3072, Australia
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Department of Neurology, University Hospitals Leuven, Campus Gasthuisberg, 3000 Leuven, Belgium
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Department of Neurology, Jagiellonian University Medical College, 31-007 Kraków, Poland
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Division of Emergency Medicine, Washington University School of Medicine, St. Louis, MO 63110-1010, USA
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Department of Neurology, Washington University School of Medicine, St. Louis MO 63110-1010, USA
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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; https://doi.org/10.3390/jcm10143137
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. https://doi.org/10.3390/jcm10143137

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. https://doi.org/10.3390/jcm10143137

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. https://doi.org/10.3390/jcm10143137

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