Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke

This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery...

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Autores principales: Ilinca, Andreea, Puschmann, Andreas, Putaala, Jukka, de Leeuw, Frank Erik, Cole, John, Kittner, Stephen, Kristoffersson, Ulf, Lindgren, Arne G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905069/
https://www.ncbi.nlm.nih.gov/pubmed/36253534
http://dx.doi.org/10.1038/s41431-022-01207-6
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author Ilinca, Andreea
Puschmann, Andreas
Putaala, Jukka
de Leeuw, Frank Erik
Cole, John
Kittner, Stephen
Kristoffersson, Ulf
Lindgren, Arne G.
author_facet Ilinca, Andreea
Puschmann, Andreas
Putaala, Jukka
de Leeuw, Frank Erik
Cole, John
Kittner, Stephen
Kristoffersson, Ulf
Lindgren, Arne G.
author_sort Ilinca, Andreea
collection PubMed
description This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes related to diseases that may predispose to stroke. We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use.
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spelling pubmed-99050692023-02-08 Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke Ilinca, Andreea Puschmann, Andreas Putaala, Jukka de Leeuw, Frank Erik Cole, John Kittner, Stephen Kristoffersson, Ulf Lindgren, Arne G. Eur J Hum Genet Brief Communication This article updates our previous Stroke Gene Panels (SGP) from 2017. Online Mendelian Inheritance in Man and PubMed were searched. We divided detected genes into two SGP groups, SGP1: genes reported in at least one person with stroke and associated with one or more clinical subgroups: large artery atherosclerotic, large artery non-atherosclerotic (tortuosity, dolichoectasia, aneurysm, non-atherosclerotic dissection or occlusion), cerebral small vessel diseases, cardio-embolic (arrhythmia, heart defect, cardiomyopathy), coagulation dysfunctions (venous thrombosis, arterial thrombosis, bleeding tendency), intracerebral hemorrhage, vascular malformations (cavernoma, arteriovenous malformations) and metabolism disorders; and SGP2: genes related to diseases that may predispose to stroke. We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use. Springer International Publishing 2022-10-17 2023-02 /pmc/articles/PMC9905069/ /pubmed/36253534 http://dx.doi.org/10.1038/s41431-022-01207-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Brief Communication
Ilinca, Andreea
Puschmann, Andreas
Putaala, Jukka
de Leeuw, Frank Erik
Cole, John
Kittner, Stephen
Kristoffersson, Ulf
Lindgren, Arne G.
Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
title Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
title_full Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
title_fullStr Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
title_full_unstemmed Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
title_short Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
title_sort updated stroke gene panels: rapid evolution of knowledge on monogenic causes of stroke
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905069/
https://www.ncbi.nlm.nih.gov/pubmed/36253534
http://dx.doi.org/10.1038/s41431-022-01207-6
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