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

Lancet Neurol. 2007 May;6(5):414-20. doi: 10.1016/S1474-4422(07)70081-9.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Aged
  • Alleles
  • Brain Ischemia / complications*
  • Cohort Studies
  • Female
  • Genetic Predisposition to Disease*
  • Genome, Human*
  • Genotype
  • Humans
  • Male
  • Polymorphism, Single Nucleotide
  • Stroke / etiology*
  • Stroke / genetics