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Chromosome 9p21.3 Variants Are Associated with Cerebral Infarction in Chinese Population

Xuanye Yue1, Lili Tian, Xinying Fan

  • 1Department of Neurology, Tianjin Neurological Institute, Tianjin Medical University General Hospital, Tianjin, 300052, China.

Journal of Molecular Neuroscience : MN
|February 11, 2015
PubMed

Insights

Genetic variants on chromosome 9p21.3 are linked to cerebral infarction (CI) risk in the Chinese Han population. This study identified specific single-nucleotide polymorphisms (SNPs) and haplotypes associated with increased CI susceptibility.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Disease Genetics

Background:

  • The association between chromosome 9p21.3 variants and coronary artery disease is well-established.
  • However, the link between 9p21.3 and cerebral infarction (CI) has been inconsistent in previous studies.
  • Understanding this genetic association is crucial for identifying populations at higher risk for stroke.

Purpose of the Study:

  • To investigate and confirm the association between chromosome 9p21.3 genetic variants and cerebral infarction (CI) in a Chinese Han population.
  • To identify specific single-nucleotide polymorphisms (SNPs) and haplotypes within 9p21.3 that confer risk or protection against CI.
  • To evaluate the independent contribution of these genetic factors to CI risk, considering traditional cerebrovascular risk factors.

Main Methods:

  • A hospital-based case-control study involving 769 CI patients and 682 healthy controls from the Chinese Han population.
  • Genotyping of eight single-nucleotide polymorphisms (SNPs) previously associated with cerebral infarction.
  • Association analyses were conducted at both the SNP and haplotype levels, including allelic, recessive, and additive models, and adjusted for traditional risk factors.

Main Results:

  • Three SNPs (rs2383207, rs1537378, and rs3731245) showed significant association with cerebral infarction.
  • Allelic analyses revealed significant associations for rs2383207, rs3731245, and rs1537378 with CI.
  • Haplotype analysis identified a protective effect for the AATAA haplotype (OR=0.87, P=2.99×10⁻³).
  • rs1537378 remained significantly associated with CI independently of traditional risk factors in recessive and additive models.
  • rs2383207 and rs3731245 were significantly associated with CI in a recessive model.

Conclusions:

  • Chromosome 9p21.3 is confirmed as an important susceptibility locus for cerebral infarction in the Chinese population.
  • Specific SNPs and haplotypes within 9p21.3 play a significant role in modulating CI risk.
  • These findings contribute to a better understanding of the genetic underpinnings of stroke and may inform future risk prediction strategies.

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