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BMC Medical Genetics

, 3:1

First Online: 12 February 2002Received: 12 December 2001Accepted: 12 February 2002

Abstract

BackgroundFamily 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.

MethodsScreening 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.

DiscussionConducting 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.

List of AbbreviationsCADASILcerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

CEPHCentre d-Etude du Polymorphisme Humain

CHLCCooperative Human Linkage Center

CRFcase report form

GDBGenome Data Base

ICFinformed consent form

MLSmaximum likelihood statistic

PICpolymorphic information content

QVSFSQuestionnaire for Verifying Stroke-Free Status

RMRFRequest for Medical Records Form RR, relative risk

SVCStroke Verification Committee

SWISSSiblings With Ischemic Stroke Study

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-3-1 contains supplementary material, which is available to authorized users.

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Autor: James F Meschia - Robert D BrownJr - Thomas G Brott - Felix E Chukwudelunzu - John Hardy - Stephen S Rich

Fuente: https://link.springer.com/







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