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9p21 is a shared susceptibility locus strongly for coronary artery disease and weakly for ischemic stroke in Chinese

Hu Ding1, Yujun Xu, Xiaojing Wang

  • 1Institute of Hypertension and Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Circulation. Cardiovascular Genetics
|December 25, 2009
PubMed

Insights

Genetic variants on chromosome 9p21 are associated with coronary artery disease (CAD) and ischemic stroke in the Chinese Han population. This study identifies 9p21 as a shared susceptibility locus for both conditions.

Area of Science:

  • Genetics
  • Cardiovascular Disease Epidemiology
  • Neurology

Background:

  • Genome-wide association studies have linked chromosome 9p21 variants to coronary artery disease (CAD).
  • Ischemic stroke and CAD share common etiological and pathological pathways.
  • Investigating 9p21 variants in the Chinese Han population is crucial due to shared disease mechanisms.

Purpose of the Study:

  • To investigate the association of chromosome 9p21 variants with ischemic stroke and CAD in the Chinese Han population.
  • To determine if 9p21 represents a shared genetic susceptibility locus for both CAD and ischemic stroke.
  • To capture genetic diversity within the 9p21 locus using haplotype-tagging single-nucleotide polymorphisms (SNPs).

Main Methods:

  • A shared control-case study design was employed.
  • Utilized 15 tagging SNPs and 2 previously reported susceptibility SNPs spanning 58 kb of chromosome 9p21.
  • Conducted analyses in an initial cohort (558 ischemic stroke cases, 510 CAD cases, 557 controls) and validated findings in an independent cohort (442 ischemic stroke cases, 502 controls).

Main Results:

  • Specific SNPs (rs2383206, rs1004638, rs10757278) in block 3 of 9p21 were significantly associated with CAD, independent of traditional risk factors.
  • Haplotype analyses revealed significant differences in block 3 profiles between controls and cases for both CAD and ischemic stroke.
  • Independent cohort validation confirmed the association of 9p21 block 3 with ischemic stroke.

Conclusions:

  • Chromosome 9p21 is identified as a shared susceptibility locus for CAD and ischemic stroke in the Chinese Han population.
  • The association is stronger for CAD and weaker for ischemic stroke.
  • These findings highlight the role of 9p21 in the pathogenesis of both cardiovascular and cerebrovascular diseases.
Abstract

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