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Study Description

The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository), banks phenotypic data and biological samples, including from individuals with cerebrovascular disease, in order to facilitate gene discovery in neurological disorders. Those samples are used in a number of studies, and genotyping data from studies using this resource are encouraged to be shared via dbGaP. Many studies have already shared data in this fashion, which in turn, can be linked back to the biologicals banked at the NINDS Repository.

Stroke is the third leading cause of death in the United States, and 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. Samples available in cerebrovascular disease in the NINDS Repository, include but are not limited to those from individuals affected with the following: ischemic stroke, hemorrhagic stroke, intracranial aneurysm (both ruptured and unruptured), transient ischemic attack, arteriovenous malformations, and others. Many studies contribute to the NINDS Repository collection in an ongoing manner and others are being added regularly. These studies include samples from the Vitamin Intervention for Stroke Prevention (VISP) study, the Ischemic Stroke Genetics Study (ISGS), the Familial Intracranial Aneurysm study, and many others.

There is also an associated Control collection (see dbGaP and Coriell). Others studies may use cases from the NINDS repository, controls from the NINDS repository, as well as cases, and controls, from other sources. A subset of subjects from The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Cerebrovascular Disease/Stroke Study was utilized in the Ischemic Stroke Genetics Study (ISGS) study.

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Summary level data for this study has been updated since its initial release at dbGaP. Updated summary level data can be derived from up to date individual level phenotype data and samples that are publicly available through Coriell Overview of Cerebrovascular Disease and Stroke and Coriell dbGaP Search.

Study Inclusion/Exclusion Criteria

All cases included in this collection must have complete Clinical data elements (CDEs) as defined by the NINDS repository and data dictionary.

The below table outlines each element from the Clincial Data Elements (CDES) and how they were handled in terms of required vs. optional data. Only samples which had accompanied required data were included in the collection for Cerebrovascular disease. Those missing data considered "optional" were accepted, as long as all required data were present. These CDEs are designed to capture information which at best, are supported by an educated guess of what may be useful for gene discovery. The Clinical Data Elements (CDEs) for Cerebrovascular Disease/Stroke are likely to change over time, and ideally should, as our knowledge of Genetics in these disorders surely will as well.

ElementRule
Zip code (first three numbers only)Optional
CountryRequired
Date of birthRequired
GenderRequired
EthnicRequired
RacialRequired
Diagnosed byOptional
Data collected byOptional
Smoking historyRequired
Years smokingOptional
Family history stroke or aneurysmRequired
Primary clinical diagnosisRequired
Age at onsetRequired
Ischemic stroke subtype (TOAST)*Required if ischemic stroke, or N/A if another form of cerebrovascular disease
AVM subtype criteriaThis section only completed if primary clinical diagnosis is AVM, otherwise is N/A
TypeIf clinical diagnosis is AVM, then answer required, otherwise is N/A
SizeIf clinical diagnosis is AVM, then answer required, otherwise optional
Venous drainageIf clinical diagnosis is AVM, then answer required, otherwise optional or is N/A
AVM locationIf clinical diagnosis is AVM, then answer required, otherwise is N/A
Spetzler Martin scoreIf clinical diagnosis is AVM, then number between 0 and 5, otherwise is N/A
Drainage locationIf clinical diagnosis is AVM, then answer required, otherwise is N/A
Other diagnosesRequired, answer present or absent for each item
Optional dataOptional

*Most researchers believe that cerebrovascular disease has complex genetic and environmental risk factors (Meschia JF, Lancet 2003). Because these include multiple clinically relevant subgroups, the appropriate phenotyping approach is not yet known. Many systems have been devised for the classification of ischemic stroke, including the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria (Adams et al., Stroke 1993). The TOAST criteria include five subtypes: 1) large-artery atherosclerosis, 2) cardioembolism, 3) small-vessel occlusion, 4) stroke of other determined etiology, and 5) stroke of undetermined etiology.

Please note that this description is of cases with Cerebrovascular disease (including stroke) from the NINDS Repository collection. However, many studies utilize one or more of the following in combination: cases from this NINDS Repository collection, cases from other sources, controls form the NINDS repository, controls from other sources. For more specifics regarding this, please see the specific sub-study or related study description. The NINDS Repository control collection and related studies are also described, and available via dbGaP at (phs000004).

References:

  1. Meschia JF. Ischaemic stroke: one or several complex genetic disorders? The Lancet 2003;2(8):459.
  2. Adams HP Jr, Bendixen BH, Kappelle LJ, et al. Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment. Stroke. 1993 Jan;24(1):35-41.
  3. Natowicz M, Kelley RI. Mendelian etiologies of stroke. Ann Neurol 1987;22:175-192.
  4. Kissela BM, Sauerbeck L, Woo D, et al. Subarachnoid hemorrhage: a preventable disease with a heritable component. Stroke 2002;33(5):1321-1326.
  5. Gretarsdottir S, Thorleifsson G, Reynisdottir ST, et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat Genet. 2003 Oct;35(2):131-138.
  6. Helgadottir A, Manolescu A, Thorleifsson G, et al. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nat Genet. 2004 Mar;36(3):233-239.

Study History
The NINDS repository was established in October 2001 with the goal of developing standardized, broadly useful diagnostic and other clinical data, as well as a collection of DNA and cell line samples to further advance gene discovery of neurological disorders. All samples and both phenotypic and genotypic data are available to the research community including academic and industry scientists. This collection includes thousands of samples and associated phenotypic data sets from individuals with Cerebrovascular disease (including ischemic stroke, i.e. brain infarction, transient ischemic attacks, intracerebral hemorrhage, aneurysm (both ruptured and un-ruptured) and arteriovenous malformations).
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