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Updated: Jun 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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.
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.
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