The Siblings With Ischemic Stroke Study (SWISS) protocol

James F Meschia, Robert D Jr. Brown, Thomas G Brott, Felix E. Chukwudelunzu, John Hardy, Stephen S. Rich

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

Background: 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. Methods: 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. Discussion: 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.

Original languageEnglish (US)
Article number1
JournalBMC Medical Genetics
Volume3
DOIs
StatePublished - Feb 12 2002

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Siblings
Stroke
Pedigree
Third-Party Consent
Transformed Cell Line
Twin Studies
Privacy
DNA
Genetic Association Studies
Human Genome
Genomics
Informed Consent
Human Herpesvirus 4
Medical Records
Genome
Interviews
Phenotype

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)

Cite this

The Siblings With Ischemic Stroke Study (SWISS) protocol. / Meschia, James F; Brown, Robert D Jr.; Brott, Thomas G; Chukwudelunzu, Felix E.; Hardy, John; Rich, Stephen S.

In: BMC Medical Genetics, Vol. 3, 1, 12.02.2002.

Research output: Contribution to journalArticle

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