Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases
3 p.
- Autores:
-
Lopez-Jaramillo, Patricio
Chong, Michael
O’Donnell, Martin J.
Thijs, Vincent
Dans, Antonio
Gómez Arbeláez, Diego
Mondo, Charles
Czlonkowska, Anna
Skowronska, Marta
Oveisgharan, Shahram
Yusuf, Salim
Paré, Guillaume
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2017
- Institución:
- Universidad de Santander
- Repositorio:
- Repositorio Universidad de Santander
- Idioma:
- eng
- OAI Identifier:
- oai:repositorio.udes.edu.co:001/3201
- Acceso en línea:
- https://repositorio.udes.edu.co/handle/001/3201
- Palabra clave:
- CADASIL
Case–control studies
Genetics
Prevalence
Stroke
- Rights
- openAccess
- License
- Derechos Reservados - American Heart Association, Inc., 2017
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Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| title |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| spellingShingle |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases CADASIL Case–control studies Genetics Prevalence Stroke |
| title_short |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| title_full |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| title_fullStr |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| title_full_unstemmed |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| title_sort |
Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases |
| dc.creator.fl_str_mv |
Lopez-Jaramillo, Patricio Chong, Michael O’Donnell, Martin J. Thijs, Vincent Dans, Antonio Gómez Arbeláez, Diego Mondo, Charles Czlonkowska, Anna Skowronska, Marta Oveisgharan, Shahram Yusuf, Salim Paré, Guillaume |
| dc.contributor.author.spa.fl_str_mv |
Lopez-Jaramillo, Patricio Chong, Michael O’Donnell, Martin J. Thijs, Vincent Dans, Antonio Gómez Arbeláez, Diego Mondo, Charles Czlonkowska, Anna Skowronska, Marta Oveisgharan, Shahram Yusuf, Salim Paré, Guillaume |
| dc.subject.proposal.eng.fl_str_mv |
CADASIL Case–control studies Genetics Prevalence Stroke |
| topic |
CADASIL Case–control studies Genetics Prevalence Stroke |
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3 p. |
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2017 |
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2017-08 |
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2019-06-25T16:15:40Z |
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10.1161/ STROKEAHA.117.017322. |
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1524-4628 0039-2499 |
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https://repositorio.udes.edu.co/handle/001/3201 |
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10.1161/ STROKEAHA.117.017322. 1524-4628 0039-2499 |
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eng |
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eng |
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Stroke |
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Derechos Reservados - American Heart Association, Inc., 2017 |
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info:eu-repo/semantics/openAccess |
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Atribución 4.0 Internacional (CC BY 4.0) |
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openAccess |
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application/pdf |
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Lopez-Jaramillo, Patricio9a71267b-dcb0-4d31-b37d-2d30be58d4d2-1Chong, Michaelb0118448-333d-4991-9a21-62042f10bbfd-1O’Donnell, Martin J.87baff49-ae1d-46bd-ad8a-0cbd6aecbacd-1Thijs, Vincent6aa606cf-21c8-4f0b-8174-d0430e09b094-1Dans, Antoniof365ef5a-7610-4022-8485-31d6d3879cd6-1Gómez Arbeláez, Diego89445da2-03b8-41d2-864e-c68aee5f2fc1-1Mondo, Charles7aafecbd-7e11-4e0b-8dc7-ddb7ded2b812-1Czlonkowska, Anna124b7f21-8a3d-4bf2-900c-bc38601f1982-1Skowronska, Marta3713c7ee-f888-43e7-9882-b5897e904de2-1Oveisgharan, Shahram1cab3836-9975-4db6-baef-f66f100c6178-1Yusuf, Salim06a836b5-f5e3-41d9-a516-9cc46e5d7948-1Paré, Guillaume4945b341-3adf-49b8-831e-c83f9fae1ccc-12019-06-25T16:15:40Z2019-06-25T16:15:40Z2017-083 p.Background and Purpose—Mendelian strokes are rare genetic disorders characterized by early-onset small-vessel stroke. Although extensively studied among families with syndromic features, whether these genes affect risk among sporadic cases is unknown. Methods—We sequenced 8 genes responsible for Mendelian stroke in a case–control study of sporadic stroke cases (≤70 years). Participants included 1251 primary stroke cases of small-vessel pathology (637 intracerebral hemorrhage and 614 small-vessel ischemic stroke cases) and 1716 controls from the INTERSTROKE study (Study of the Importance of Conventional and Emerging Risk Factors of Stroke in Different Regions and Ethnic Groups of the World). Results—Overall, the prevalence of canonical disease-causing mutations was 0.56% in cases and 0.23% in controls (odds ratio=1.89; 95% confidence interval, 0.54–7.57; P=0.33). CADASIL (Cerebral Autosomal Dominant Arteriopathies with Subcortical Infarcts and Leukoencephalopathies) mutations were more frequent among cases (0.48%) than controls (0.23%) but were not significantly associated with stroke risk (odds ratio=2.03; 95% confidence interval, 0.58–8.02; P=0.27). Next, we included all rare nonsynonymous mutations to investigate whether other types of mutations may contribute to stroke risk. Overall, 13.5% of cases and 14.2% of controls were carriers of at least one rare nonsynonymous mutation among the 8 Mendelian stroke genes. Mutation carriers were not at elevated risk of stroke (odds ratio=0.93; 95% confidence interval, 0.75–1.16; P=0.55). Conclusions—In the absence of syndromic features and family history of stroke, screening for Mendelian mutations among small-vessel stroke patients is unlikely to have high diagnostic utility.application/pdf10.1161/ STROKEAHA.117.017322.1524-46280039-2499https://repositorio.udes.edu.co/handle/001/3201engStrokeDerechos Reservados - American Heart Association, Inc., 2017info:eu-repo/semantics/openAccessAtribución 4.0 Internacional (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/http://purl.org/coar/access_right/c_abf2https://www.ahajournals.org/doi/pdf/10.1161/STROKEAHA.117.017322CADASILCase–control studiesGeneticsPrevalenceStrokeMendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic CasesArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1Textinfo:eu-repo/semantics/articlehttp://purl.org/redcol/resource_type/ARTinfo:eu-repo/semantics/drafthttp://purl.org/coar/version/c_b1a7d7d4d402bccePublicationTHUMBNAILMendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.pdf.jpgMendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.pdf.jpgGenerated Thumbnailimage/jpeg1903https://repositorio.udes.edu.co/bitstreams/c7222dda-0fbd-452c-8c65-c0b6263388b7/download26bd5c281e65c529af1b5614cb386cadMD54LICENSElicense.txtlicense.txttext/plain; charset=utf-859https://repositorio.udes.edu.co/bitstreams/57d59b67-5582-4be0-bf4f-697ddbdbbcc5/download38d94cf55aa1bf2dac1a736ac45c881cMD52ORIGINALMendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.pdfArtículo Principalapplication/pdf107545https://repositorio.udes.edu.co/bitstreams/2e2b45d7-2b79-4854-878b-2147813a7530/download66f52c3dd329e744c74aecee956e6595MD55TEXTMendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.pdf.txtMendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases.pdf.txtExtracted texttext/plain16901https://repositorio.udes.edu.co/bitstreams/032fd697-b176-440b-84f2-b513cf23801c/download7c8516dd9f076f5c05ae6a7b6e33804eMD53001/3201oai:repositorio.udes.edu.co:001/32012023-10-10 09:08:07.897https://creativecommons.org/licenses/by/4.0/Derechos Reservados - American Heart Association, Inc., 2017https://repositorio.udes.edu.coRepositorio Universidad de Santandersoporte@metabiblioteca.comTGljZW5jaWEgZGUgUHVibGljYWNpw7NuIFVERVMKRGlyZWN0cmljZXMgZGUgVVNPIHkgQUNDRVNPCgo= |