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Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic stroke

Andreas Gschwendtner1, Steve Bevan, John W Cole

  • 1Department of Neurology, Klinikum Grosshadern, Ludwig-Maximilians-Universität, Marchioninistrasse 15, Munich, Germany.

Annals of Neurology
|May 29, 2009
PubMed

Insights

The chromosome 9p21.3 region is a significant risk factor for atherosclerotic stroke. This genetic locus contributes to stroke risk independently of coronary artery disease and other vascular risk factors.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Neurology

Background:

  • A major genetic risk locus for coronary artery disease and myocardial infarction has been identified on chromosome 9p21.3.
  • Ischemic stroke shares common pathogenic mechanisms with myocardial infarction, suggesting a potential link to the 9p21.3 region.

Purpose of the Study:

  • To investigate whether the chromosome 9p21.3 region contributes to the risk of ischemic stroke.
  • To determine if the 9p21.3 genetic locus is associated with atherosclerotic stroke risk.

Main Methods:

  • Genotyping of 15 single nucleotide polymorphisms (SNPs) in the 9p21 region was performed in initial screening samples from Germany and the UK.
  • SNPs associated with ischemic stroke in screening were further genotyped in a larger combined sample from Europe and North America.

Main Results:

  • Seven SNPs in the 9p21 region were associated with atherosclerotic stroke in initial screening.
  • Six SNPs confirmed significant associations with atherosclerotic stroke in the full sample, independent of other risk factors.
  • The lead SNP (rs1537378-C) showed a pooled odds ratio of 1.21, with a population attributable risk of 20.1% for atherosclerotic stroke.

Conclusions:

  • The chromosome 9p21.3 region is a significant risk locus for atherosclerotic stroke.
  • The identified risk associated with 9p21.3 for stroke is independent of its known association with coronary artery disease and other vascular risk factors.
  • These findings highlight a broader role for the 9p21 region in the pathogenesis of arterial diseases.
Abstract

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