ID

46173

Description

Principal Investigator: Steven Kittner, MD, University of Maryland School of Medicine, Baltimore, MD, USA MeSH: Cerebral infarction https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000615 The NINDS Stroke Genetics Network (SiGN) is a large international collaboration designed to detect genetic variants that predispose to subtypes of ischemic stroke. The study implements a genome wide association study (GWAS) methodology with all stroke cases undergoing phenotypic and stroke-subtype classification using the same web-based Causative Classification of Stroke (CCS) system, with data entered by trained and certified adjudicators at participating Research Centers (GRC's). SiGN includes ischemic stroke cases from 24 GRC's, 13 from the US and 11 from Europe. Each GRC has access to well-characterized ischemic stroke cases in which extensive phenotype data and high-quality DNA was available. Genome-wide data was available for many cases and for those without, new genome-wide genotyping, including exome chip genotyping of rare variants, was done through the Center for Inherited Diseases Research (CIDR). To maximize power for subtype analyses, genotyping resources were allocated almost exclusively to cases. With few exceptions, controls were drawn from studies with publicly available genome-wide data.

Link

dbGaP study=phs000615

Keywords

Versions (2)
  1. 11/15/22 11/15/22 - Simon Heim
  2. 1/29/25 1/29/25 - Akane Nishihara
Copyright Holder

Steven Kittner, MD, University of Maryland School of Medicine, Baltimore, MD, USA

Uploaded on

January 29, 2025

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000615 NINDS Stroke Genetics Network (SiGN)

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
*Inclusion Criteria:*Ischemic stroke
Description

*Inclusion Criteria:*Ischemic stroke

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0948008
Brain imaging with CT or MRI
Description

Brain imaging with CT or MRI

Data type

boolean

Alias
UMLS CUI [1,1]
C0412585
UMLS CUI [1,2]
C0412675
*Exclusion Criteria:*
Description

*Exclusion Criteria:*

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
Cases due to rare known causes (including: dilated cardiomyopathy, infective endocarditis, papillary fibroelastoma, left atrial myxoma, cerebral vasculitis, cerebral venous thrombosis, acute disseminated intravascular coagulation, drug-induced, heparin-induced thrombocytopenia type II, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, iatrogenic causes, MELAS, meningitis, primary infection of the arterial wall, and sickle cell disease).
Description

Cases due to rare known causes (including: dilated cardiomyopathy, infective endocarditis, papillary fibroelastoma, left atrial myxoma, cerebral vasculitis, cerebral venous thrombosis, acute disseminated intravascular coagulation, drug-induced, heparin-induced thrombocytopenia type II, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, iatrogenic causes, MELAS, meningitis, primary infection of the arterial wall, and sickle cell disease).

Data type

boolean

Alias
UMLS CUI [1,1]
C0007193
UMLS CUI [1,2]
C1541923
UMLS CUI [1,3]
C1947920
UMLS CUI [1,4]
C0518959
UMLS CUI [1,5]
C0012739
UMLS CUI [1,6]
C0238051
UMLS CUI [1,7]
C0151945
UMLS CUI [1,8]
C0272285
UMLS CUI [1,9]
C2956641
UMLS CUI [1,10]
C0162671
UMLS CUI [1,11]
C0025289
UMLS CUI [1,12]
C0340669
UMLS CUI [1,13]
C0002895
UMLS CUI [1,14]
C0020732
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
*Inclusion Criteria:*Ischemic stroke
Item
*Inclusion Criteria:*Ischemic stroke
boolean
C1512693 (UMLS CUI [1,1])
C0948008 (UMLS CUI [1,2])
Brain imaging with CT or MRI
Item
Brain imaging with CT or MRI
boolean
C0412585 (UMLS CUI [1,1])
C0412675 (UMLS CUI [1,2])
*Exclusion Criteria:*
Item
*Exclusion Criteria:*
boolean
C0680251 (UMLS CUI [1,1])
Cases due to rare known causes (including: dilated cardiomyopathy, infective endocarditis, papillary fibroelastoma, left atrial myxoma, cerebral vasculitis, cerebral venous thrombosis, acute disseminated intravascular coagulation, drug-induced, heparin-induced thrombocytopenia type II, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, iatrogenic causes, MELAS, meningitis, primary infection of the arterial wall, and sickle cell disease).
Item
Cases due to rare known causes (including: dilated cardiomyopathy, infective endocarditis, papillary fibroelastoma, left atrial myxoma, cerebral vasculitis, cerebral venous thrombosis, acute disseminated intravascular coagulation, drug-induced, heparin-induced thrombocytopenia type II, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, iatrogenic causes, MELAS, meningitis, primary infection of the arterial wall, and sickle cell disease).
boolean
C0007193 (UMLS CUI [1,1])
C1541923 (UMLS CUI [1,2])
C1947920 (UMLS CUI [1,3])
C0518959 (UMLS CUI [1,4])
C0012739 (UMLS CUI [1,5])
C0238051 (UMLS CUI [1,6])
C0151945 (UMLS CUI [1,7])
C0272285 (UMLS CUI [1,8])
C2956641 (UMLS CUI [1,9])
C0162671 (UMLS CUI [1,10])
C0025289 (UMLS CUI [1,11])
C0340669 (UMLS CUI [1,12])
C0002895 (UMLS CUI [1,13])
C0020732 (UMLS CUI [1,14])
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