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PMID: 11882254 Published · ppublish English Journal Article

The Siblings With Ischemic Stroke Study (SWISS) protocol.

BMC medical genetics ·Vol. 3 ·2002-00-00 ·Pages 1

Meschia JF, Brown RD, Brott TG, Chukwudelunzu FE, Hardy J, Rich SS

Abstract

Family history and twins studies suggest an inherited component to ischemic stroke risk. Candidate gene association studies have been performed but have limited capacity to identify novel risk factor genes. The Siblings With Ischemic Stroke Study (SWISS) aims to conduct a genome-wide scan in sibling pairs concordant or discordant for ischemic stroke to identify novel genetic risk factors through linkage analysis. Screening at multiple clinical centers identifies patients (probands) with radiographically confirmed ischemic stroke and a family history of at least 1 living full sibling with stroke. After giving informed consent, without violating privacy among other family members, the proband invites siblings concordant and discordant for stroke to participate. Siblings then contact the study coordinating center. The diagnosis of ischemic stroke in potentially concordant siblings is confirmed by systematic centralized review of medical records. The stroke-free status of potentially discordant siblings is confirmed by validated structured telephone interview. Blood samples for DNA analysis are taken from concordant sibling pairs and, if applicable, from 1 discordant sibling. Epstein-Barr virus-transformed lymphoblastoid cell lines are created, and a scan of the human genome is planned. Conducting adequately powered genomics studies of stroke in humans is challenging because of the heterogeneity of the stroke phenotype and the difficulty of obtaining DNA samples from clinically well-characterized members of a cohort of stroke pedigrees. The multicentered design of this study is intended to efficiently assemble a cohort of ischemic stroke pedigrees without invoking community consent or using cold-calling of pedigree members.

Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Meschia James F
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA. [email protected]
Brown Robert D
Brott Thomas G
Chukwudelunzu Felix E
Hardy John
Rich Stephen S
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Article Info
Journal
BMC medical genetics
Abbr.
BMC Med Genet
ISSN
1471-2350
DOI
10.1186/1471-2350-3-1
Email
[email protected]
Published
2002-00-00
Epub
2002-00-12
Pages
1
Language
English
Region
England
NLM ID
100968552
PMCID
PMC79001
Grants
NINDS NIH HHS · R01 NS039987 · United States
External Links
PubMed source DOI: 10.1186/1471-2350-3-1 PMC Full Text View journal details
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