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Chromosome 9p21 Genetic Variants Are Associated With Myocardial Infarction But Not With Ischemic Stroke in a Taiwanese Population
  1. Hsiu-Fen Lin, MD*†,
  2. Pei-Chien Tsai, PhD,
  3. Yi-Chu Liao, MD, MS§∥,
  4. Tsung-Hsien Lin, MD¶**,
  5. Chih-Ta Tai, MD, PhD*†,
  6. Suh-Hang Hank Juo, MD, PhDࠠ,
  7. Ruey-Tay Lin, MD*†
  1. From the *Department of Neurology, Kaohsiung Medical University Hospital,†Department of Neurology, Kaohsiung Medical University, ‡Department of Medical Research, Kaohsiung Medical University Hospital, and §Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung; ∥Section of Neurology, Taichung Veterans General Hospital, Taichung; and ¶Division of Cardiology, Department of Internal Medicine, Kaohsiung Medical University Hospital, **Department of Internal Medicine, Kaohsiung Medical University, and ††Department of Medical Genetics, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
  1. Received December 18, 2010.
  2. Accepted for publication January 27, 2011.
  3. Reprints: Ruey-Tay Lin, MD, Department of Neurology, Kaohsiung Medical University, 100 TzYou First Road, Kaohsiung City 807, Taiwan. E-mail: tay{at}
  4. Supported by the following grants: National Science Council, Taiwan (NSC 97-2314-B-037-019; 99-2628-B-037-038-MY3) and Kaohsiung Medical University intramural grant (KMUH98-8G18).


Background Genetic variants on chromosome 9p21 confer a robust risk for coronary artery disease but inconsistent risk for stroke. This study investigated whether such genetic variants exert differential risks on myocardial infarction (MI) and ischemic stroke in a Taiwanese population.

Methods The study recruited 425 MI patients, 687 patients with ischemic stroke, and 1377 healthy controls. Four key single nucleotide polymorphisms (SNPs) on chromosome 9p21 were genotyped.

Results Multivariate permutation analyses demonstrated that the risk T allele of rs1333040 and G allele of rs2383207 were associated with MI (P = 0.045 and 0.002, respectively). Subjects with the rs2383207 GG genotype had a 1.85-fold (P = 0.021) risk for MI when compared with the subjects with the AA genotype. Further analysis showed that significant results only exist in the young MI group (<65 years) but not in the old MI group (≥65 years). These SNPs were not statistically significant for stroke (adjusted P ranged from 0.097 to 0.540). Haplotype analysis showed global P values of 0.032 for MI and 0.290 for stroke.

Conclusions Genetic variations in the 9p21 region are associated with MI but not with stroke in a Taiwanese population. Early-onset MI was more likely to carry the risk genotypes of 9p21 SNPs.

Key Words
  • chromosome 9p21
  • genetics
  • myocardial infarction
  • stroke

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