Dataset Information

Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.

ABSTRACT: BACKGROUND AND PURPOSE:NINDS (National Institute of Neurological Disorders and Stroke)-SiGN (Stroke Genetics Network) is an international consortium of ischemic stroke studies that aims to generate high-quality phenotype data to identify the genetic basis of pathogenic stroke subtypes. This analysis characterizes the etiopathogenetic basis of ischemic stroke and reliability of stroke classification in the consortium. METHODS:Fifty-two trained and certified adjudicators determined both phenotypic (abnormal test findings categorized in major pathogenic groups without weighting toward the most likely cause) and causative ischemic stroke subtypes in 16 954 subjects with imaging-confirmed ischemic stroke from 12 US studies and 11 studies from 8 European countries using the web-based Causative Classification of Stroke System. Classification reliability was assessed with blinded readjudication of 1509 randomly selected cases. RESULTS:The distribution of pathogenic categories varied by study, age, sex, and race (P<0.001 for each). Overall, only 40% to 54% of cases with a given major ischemic stroke pathogenesis (phenotypic subtype) were classified into the same final causative category with high confidence. There was good agreement for both causative (? 0.72; 95% confidence interval, 0.69-0.75) and phenotypic classifications (? 0.73; 95% confidence interval, 0.70-0.75). CONCLUSIONS:This study demonstrates that pathogenic subtypes can be determined with good reliability in studies that include investigators with different expertise and background, institutions with different stroke evaluation protocols and geographic location, and patient populations with different epidemiological characteristics. The discordance between phenotypic and causative stroke subtypes highlights the fact that the presence of an abnormality in a patient with stroke does not necessarily mean that it is the cause of stroke.

SUBMITTER: Ay H

PROVIDER: S-EPMC4286169 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.

Ay Hakan H Arsava Ethem Murat EM Andsberg Gunnar G Benner Thomas T Brown Robert D RD Chapman Sherita N SN Cole John W JW Delavaran Hossein H Dichgans Martin M Engström Gunnar G Giralt-Steinhauer Eva E Grewal Raji P RP Gwinn Katrina K Jern Christina C Jimenez-Conde Jordi J Jood Katarina K Katsnelson Michael M Kissela Brett B Kittner Steven J SJ Kleindorfer Dawn O DO Labovitz Daniel L DL Lanfranconi Silvia S Lee Jin-Moo JM Lehm Manuel M Lemmens Robin R Levi Chris C Li Linxin L Lindgren Arne A Markus Hugh S HS McArdle Patrick F PF Melander Olle O Norrving Bo B Peddareddygari Leema Reddy LR Pedersén Annie A Pera Joanna J Rannikmäe Kristiina K Rexrode Kathryn M KM Rhodes David D Rich Stephen S SS Roquer Jaume J Rosand Jonathan J Rothwell Peter M PM Rundek Tatjana T Sacco Ralph L RL Schmidt Reinhold R Schürks Markus M Seiler Stephan S Sharma Pankaj P Slowik Agnieszka A Sudlow Cathie C Thijs Vincent V Woodfield Rebecca R Worrall Bradford B BB Meschia James F JF

Stroke 20141106 12

<h4>Background and purpose</h4>NINDS (National Institute of Neurological Disorders and Stroke)-SiGN (Stroke Genetics Network) is an international consortium of ischemic stroke studies that aims to generate high-quality phenotype data to identify the genetic basis of pathogenic stroke subtypes. This analysis characterizes the etiopathogenetic basis of ischemic stroke and reliability of stroke classification in the consortium.<h4>Methods</h4>Fifty-two trained and certified adjudicators determined ...[more]

PMID: 25378430

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Project description:<p>The third leading cause of death in the United States, stroke is an acute neurological event leading to death of neural tissues. Although the majority of strokes are ischemic strokes, meaning there is oxygen deprivation to the brain, almost 20% of strokes are hemorrhagic, resulting from bleeding into the brain. Stroke is a complex disorder and likely multigenic in nature, resulting from a combination of genetic and environmental factors. These well characterized risk factors that contribute to the incidence of stroke include hypertension, cardiac disease, sickle cell disease, hyperhomocysteinemia, family history of stroke and smoking. </p> <p>ISGS aim is to perform a prospective genetic association study of ischemic stroke focusing on the hemostatic system. ISGS is a 5-center case-control study of first-ever ischemic stroke cases and concurrent controls individually matched for age, sex and recruitment site. </p> <p>This data includes that from subjects both banked in the <a href="http://ccr.coriell.org/Sections/Collections/NINDS/?SsId=10"> NINDS repository</a> with biologicals publicly available, and those whose samples are not banked/not available. </p>  <p>This study utilized the <a href="./study.cgi?id=phs000005">NINDS Repository Cerebrovascular/Stroke Study</a>, and <a href="./study.cgi?id=phs000004">neurologically normal controls</a> from the sample population which are banked in the National Institute of Neurological Disorders and Stroke (NINDS Repository) collection for a first stage whole genome analysis.</p>

Dataset Information

Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.

Publications

Pathogenic ischemic stroke phenotypes in the NINDS-stroke genetics network.

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