Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases
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 Men...
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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 2019-06-25T16:15:40Z 2019-06-25T16:15:40Z 2017-08 3 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/pdf 10.1161/ STROKEAHA.117.017322. 1524-4628 0039-2499 https://repositorio.udes.edu.co/handle/001/3201 eng Stroke Derechos Reservados - American Heart Association, Inc., 2017 info:eu-repo/semantics/openAccess Atribución 4.0 Internacional (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/ https://www.ahajournals.org/doi/pdf/10.1161/STROKEAHA.117.017322 CADASIL Case–control studies Genetics Prevalence Stroke Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases Artículo de revista http://purl.org/coar/resource_type/c_6501 Text info:eu-repo/semantics/article http://purl.org/redcol/resource_type/ART info:eu-repo/semantics/draft Publication http://purl.org/coar/access_right/c_abf2 http://purl.org/coar/version/c_b1a7d7d4d402bcce |
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Universidad EIA |
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d_repositorio.udes.edu.co-DSPACE |
| 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 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 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 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 |
| author |
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 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 |
| author_facet |
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 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 |
| building |
Repositorio digital |
| topic |
CADASIL Case–control studies Genetics Prevalence Stroke |
| topic_facet |
CADASIL Case–control studies Genetics Prevalence Stroke |
| publishDate |
2017-08 |
| language |
English |
| format |
Artículo de revista |
| description |
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.
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| issn |
1524-4628 |
| url |
https://repositorio.udes.edu.co/handle/001/3201 |
| url_str_mv |
https://repositorio.udes.edu.co/handle/001/3201 |
| _version_ |
1763138239740248064 |
| score |
11.23617 |
