{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:08:01Z","timestamp":1792624081401,"version":"4.5.0"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec>\n            <jats:title>Background and Purpose\u2014<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods\u2014<\/jats:title>\n            <jats:p>We sequenced 8 genes responsible for Mendelian stroke in a case\u2013control study of sporadic stroke cases (\u226470 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).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results\u2014<\/jats:title>\n            <jats:p>\n              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\u20137.57;\n              <jats:italic>P<\/jats:italic>\n              =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\u20138.02;\n              <jats:italic>P<\/jats:italic>\n              =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\u20131.16;\n              <jats:italic>P<\/jats:italic>\n              =0.55).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/strokeaha.117.017322","type":"journal-article","created":{"date-parts":[[2017,7,6]],"date-time":"2017-07-06T01:10:36Z","timestamp":1499303436000},"page":"2263-2265","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Mendelian Genes and Risk of Intracerebral Hemorrhage and Small-Vessel Ischemic Stroke in Sporadic Cases"],"prefix":"10.1161","volume":"48","author":[{"given":"Michael","family":"Chong","sequence":"first","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"O\u2019Donnell","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Thijs","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Dans","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricio","family":"L\u00f3pez-Jaramillo","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"G\u00f3mez-Arbel\u00e1ez","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Mondo","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Czlonkowska","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Skowronska","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Oveisgharan","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salim","family":"Yusuf","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillaume","family":"Par\u00e9","sequence":"additional","affiliation":[{"name":"From the Population Health Research Institute, Hamilton, Ontario, Canada (M.C., S.Y., G.P.); HRB Clinical Research Facility, NUI Galway, University Hospital Galway, Ireland (M.O.); Vlaams Instituut voor Biotechnologie, Vesalius Research Center, Department of Neurology, University Hospitals KU Leuven, Belgium (V.T.); Philippine General Hospital, Manila (A.D.); Fundaci\u00f3n Oftalmol\u00f3gica de Santander, Medical School, Universidad de Santander, Bucaramanga, Colombia (P.L.-J., D.G.-A.); Division of..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-015-7794-4"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.051847"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31824d586c"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0075035"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0136352"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(16)30506-2"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.344"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.109.568402"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053727"}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.117.017322","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T15:23:23Z","timestamp":1715613803000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.117.017322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1161\/STROKEAHA.117.017322"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.117.017322","relation":{},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"2017-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-06-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-07-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}