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Updated: Jun 13, 2026
06:01
A Thrombotic Stroke Model Based On Transient Cerebral Hypoxia-ischemia
Published on: August 18, 2015
Chromosome 9p21 in ischemic stroke: population structure and meta-analysis
Christopher D Anderson1, Alessandro Biffi, Natalia S Rost
1Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, CPZN-6818, Boston, MA 02114, USA.
Stroke
|April 17, 2010
Summary
Genetic variants on chromosome 9p21.3 are linked to ischemic stroke risk. Focusing on large artery stroke subtypes amplifies the association, explaining previous inconsistent findings.
Area of Science:
- Genetics
- Cardiovascular Disease Epidemiology
- Neurology
Background:
- Chromosome 9p21.3 variants are associated with coronary artery disease but have inconsistent links to ischemic stroke.
- Previous studies may be confounded by population stratification or fail to account for stroke subtypes.
Purpose of the Study:
- Investigate the role of 9p21.3 variants in ischemic stroke.
- Determine if population stratification or stroke subtype specificity explains inconsistent findings.
Main Methods:
- Assessed population stratification using genomewide data.
- Conducted a meta-analysis of 8 ischemic stroke studies focusing on single nucleotide polymorphisms rs1537378 and rs10757278.
- Performed subtype analysis, specifically for large artery stroke.
Main Results:
- No evidence of population stratification at the 9p21.3 locus was found.
- Both rs1537378 and rs10757278 were confirmed as risk factors for ischemic stroke.
- The association of these single nucleotide polymorphisms with stroke risk was significantly stronger for the large artery stroke subtype.
Conclusions:
- 9p21.3 variants are definitively associated with ischemic stroke risk.
- The increased effect size in large artery stroke explains prior inconsistent results and aligns with coronary artery disease findings.
- Subtype specificity, not population stratification, is the primary explanation for previous discrepancies.
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