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The Ischemic Stroke Genetics Study (ISGS) Protocol.

Meschia JF, Brott TG, Brown RD, Crook RJ, Frankel M, Hardy J, Merino JG, Rich SS, Silliman S, Worrall BB, Ischemic Stroke Genetics Stu - BMC Neurol (2003)

Bottom Line: Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls.Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future.Having cell lines will permit testing of future candidate risk factor genes.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA. Meschia.James@mayo.edu

ABSTRACT

Background: The molecular basis for the genetic risk of ischemic stroke is likely to be multigenic and influenced by environmental factors. Several small case-control studies have suggested associations between ischemic stroke and polymorphisms of genes that code for coagulation cascade proteins and platelet receptors. Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype.

Methods/design: The Ischemic Stroke Genetic Study is a prospective, multicenter genetic association study in adults with recent first-ever ischemic stroke confirmed with computed tomography or magnetic resonance imaging. Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls. Stroke subtypes are determined by central blinded adjudication using standardized, validated mechanistic and syndromic classification systems. The panel of genes to be tested for polymorphisms includes beta-fibrinogen and platelet glycoprotein Ia, Iba, and IIb/IIIa. Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future.

Discussion: The study is designed to minimize survival bias and to allow for exploring associations between specific polymorphisms and individual subtypes of ischemic stroke. The data set will also permit the study of genetic determinants of stroke outcome. Having cell lines will permit testing of future candidate risk factor genes.

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Related in: MedlinePlus

Overview of flow of samples and data from study subjects to genetic analyses.
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Figure 1: Overview of flow of samples and data from study subjects to genetic analyses.

Mentions: The ISGS is a prospective multicenter study using a case-control design (Fig. 1). Patients and control subjects are screened at one of five clinical centers (Appendix 1 – Additional file: 1), stroke status is verified, the index stroke for each patient is subtyped, and baseline clinical and demographic data are collected. Blood samples are collected from all enrolled patients and control subjects by means of a one-time venipuncture. The samples are shipped to a central DNA bank for processing and storage, and the processed DNA samples are sent to a central genetics laboratory for genotyping. The genotype data are then merged with the clinical, stroke, and follow-up data and analyzed to ascertain potential associations between stroke risk and genes for β-fibrinogen and platelet GPIa, GPIbα, or GPIIb/III.


The Ischemic Stroke Genetics Study (ISGS) Protocol.

Meschia JF, Brott TG, Brown RD, Crook RJ, Frankel M, Hardy J, Merino JG, Rich SS, Silliman S, Worrall BB, Ischemic Stroke Genetics Stu - BMC Neurol (2003)

Overview of flow of samples and data from study subjects to genetic analyses.
© Copyright Policy
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC184375&req=5

Figure 1: Overview of flow of samples and data from study subjects to genetic analyses.
Mentions: The ISGS is a prospective multicenter study using a case-control design (Fig. 1). Patients and control subjects are screened at one of five clinical centers (Appendix 1 – Additional file: 1), stroke status is verified, the index stroke for each patient is subtyped, and baseline clinical and demographic data are collected. Blood samples are collected from all enrolled patients and control subjects by means of a one-time venipuncture. The samples are shipped to a central DNA bank for processing and storage, and the processed DNA samples are sent to a central genetics laboratory for genotyping. The genotype data are then merged with the clinical, stroke, and follow-up data and analyzed to ascertain potential associations between stroke risk and genes for β-fibrinogen and platelet GPIa, GPIbα, or GPIIb/III.

Bottom Line: Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls.Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future.Having cell lines will permit testing of future candidate risk factor genes.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA. Meschia.James@mayo.edu

ABSTRACT

Background: The molecular basis for the genetic risk of ischemic stroke is likely to be multigenic and influenced by environmental factors. Several small case-control studies have suggested associations between ischemic stroke and polymorphisms of genes that code for coagulation cascade proteins and platelet receptors. Our aim is to investigate potential associations between hemostatic gene polymorphisms and ischemic stroke, with particular emphasis on detailed characterization of the phenotype.

Methods/design: The Ischemic Stroke Genetic Study is a prospective, multicenter genetic association study in adults with recent first-ever ischemic stroke confirmed with computed tomography or magnetic resonance imaging. Patients are evaluated at academic medical centers in the United States and compared with sex- and age-matched controls. Stroke subtypes are determined by central blinded adjudication using standardized, validated mechanistic and syndromic classification systems. The panel of genes to be tested for polymorphisms includes beta-fibrinogen and platelet glycoprotein Ia, Iba, and IIb/IIIa. Immortalized cell lines are created to allow for time- and cost-efficient testing of additional candidate genes in the future.

Discussion: The study is designed to minimize survival bias and to allow for exploring associations between specific polymorphisms and individual subtypes of ischemic stroke. The data set will also permit the study of genetic determinants of stroke outcome. Having cell lines will permit testing of future candidate risk factor genes.

Show MeSH
Related in: MedlinePlus