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The Siblings With Ischemic Stroke Study (SWISS) protocol.

Meschia JF, Brown RD, Brott TG, Chukwudelunzu FE, Hardy J, Rich SS - BMC Med. Genet. (2002)

Bottom Line: 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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA. meschia.james@mayo.edu

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.

No MeSH data available.


Related in: MedlinePlus

Sample study pedigree for the Siblings With Ischemic Stroke Study (SWISS). Solid symbols indicate ischemic stroke; CS, concordant sibling; and DS, discordant sibling.
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Figure 1: Sample study pedigree for the Siblings With Ischemic Stroke Study (SWISS). Solid symbols indicate ischemic stroke; CS, concordant sibling; and DS, discordant sibling.

Mentions: Three groups of subjects will be studied: probands, concordant siblings, and discordant siblings (Fig. 1).


The Siblings With Ischemic Stroke Study (SWISS) protocol.

Meschia JF, Brown RD, Brott TG, Chukwudelunzu FE, Hardy J, Rich SS - BMC Med. Genet. (2002)

Sample study pedigree for the Siblings With Ischemic Stroke Study (SWISS). Solid symbols indicate ischemic stroke; CS, concordant sibling; and DS, discordant sibling.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC79001&req=5

Figure 1: Sample study pedigree for the Siblings With Ischemic Stroke Study (SWISS). Solid symbols indicate ischemic stroke; CS, concordant sibling; and DS, discordant sibling.
Mentions: Three groups of subjects will be studied: probands, concordant siblings, and discordant siblings (Fig. 1).

Bottom Line: 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.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA. meschia.james@mayo.edu

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.

No MeSH data available.


Related in: MedlinePlus