Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke
(2023) In European Journal of Human Genetics 31(2). p.239-242- Abstract
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... (More)
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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- author
- Ilinca, Andreea LU ; Puschmann, Andreas LU ; Putaala, Jukka ; de Leeuw, Frank Erik ; Cole, John ; Kittner, Stephen ; Kristoffersson, Ulf LU and Lindgren, Arne G LU
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Human Genetics
- volume
- 31
- issue
- 2
- pages
- 239 - 242
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:36253534
- scopus:85139995985
- ISSN
- 1476-5438
- DOI
- 10.1038/s41431-022-01207-6
- project
- Young patients with Stroke in Skane
- language
- English
- LU publication?
- yes
- additional info
- © 2022. The Author(s).
- id
- 881c4787-5432-4298-93be-0736d22fd51d
- date added to LUP
- 2022-10-28 14:32:34
- date last changed
- 2024-06-27 21:52:46
@article{881c4787-5432-4298-93be-0736d22fd51d, abstract = {{<p>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.</p>}}, author = {{Ilinca, Andreea and Puschmann, Andreas and Putaala, Jukka and de Leeuw, Frank Erik and Cole, John and Kittner, Stephen and Kristoffersson, Ulf and Lindgren, Arne G}}, issn = {{1476-5438}}, language = {{eng}}, number = {{2}}, pages = {{239--242}}, publisher = {{Nature Publishing Group}}, series = {{European Journal of Human Genetics}}, title = {{Updated Stroke Gene Panels : Rapid evolution of knowledge on monogenic causes of stroke}}, url = {{http://dx.doi.org/10.1038/s41431-022-01207-6}}, doi = {{10.1038/s41431-022-01207-6}}, volume = {{31}}, year = {{2023}}, }