Literature DB >> 17434096

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release.

Mar Matarín1, W Mark Brown, Sonja Scholz, Javier Simón-Sánchez, Hon-Chung Fung, Dena Hernandez, J Raphael Gibbs, Fabienne Wavrant De Vrieze, Cynthia Crews, Angela Britton, Carl D Langefeld, Thomas G Brott, Robert D Brown, Bradford B Worrall, Michael Frankel, Scott Silliman, L Douglas Case, Andrew Singleton, John A Hardy, Stephen S Rich, James F Meschia.   

Abstract

BACKGROUND: Despite evidence of a genetic role in stroke, the identification of common genetic risk factors for this devastating disorder remains problematic. We aimed to identify any common genetic variability exerting a moderate to large effect on risk of ischaemic stroke, and to generate publicly available genome-wide genotype data to facilitate others doing the same.
METHODS: We applied a genome-wide high-density single-nucleotide-polymorphism (SNP) genotyping approach to a cohort of samples with and without ischaemic stroke (n=278 and 275, respectively), and did an association analysis adjusted for known confounders in a final cohort of 249 cases and 268 controls. More than 400,000 unique SNPs were assayed.
FINDINGS: We produced more than 200 million genotypes in 553 unique participants. The raw genotypes of all the controls have been posted publicly in a previous study of Parkinson's disease. From this effort, results of genotype and allele association tests have been publicly posted for 88% of stroke patients who provided proper consent for public release. Preliminary analysis of these data did not reveal any single locus conferring a large effect on risk for ischaemic stroke.
INTERPRETATION: The data generated here comprise the first phase of a genome-wide association analysis in patients with stroke. Release of phase I results generated in these publicly available samples from each consenting individual makes this dataset a valuable resource for data-mining and augmentation.

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Year:  2007        PMID: 17434096      PMCID: PMC2613843          DOI: 10.1016/S1474-4422(07)70081-9

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


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Journal:  Neuromolecular Med       Date:  2016-08-27       Impact factor: 3.843

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