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Association study of CACNA1C polymorphisms with large artery atherosclerotic stroke in Chinese Han population

Chen Peng1, Ying Ding1, Xin Yi2

  • 1a Department of Neurology , Shanghai Eighth People's Hospital Affiliated to Jiangsu University , Shanghai , PR China.

Neurological Research
|April 24, 2018
PubMed

Insights

Genetic variations in the CACNA1C gene are linked to large-artery atherosclerotic stroke risk in the Chinese Han population. Specific single-nucleotide polymorphisms (SNPs) and haplotypes show significant associations with this common neurological disease.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Disease

Background:

  • Ischemic stroke (IS) is a leading cause of death and disability in China.
  • The CACNA1C gene's role in atherosclerosis and its association with IS risk, particularly large-artery atherosclerotic (LAA) stroke, requires further elucidation.
  • Understanding genetic predispositions is crucial for IS prevention and management.

Purpose of the Study:

  • To investigate the association between four single-nucleotide polymorphisms (SNPs) in the CACNA1C gene and the risk of large-artery atherosclerotic (LAA) stroke.
  • To identify specific CACNA1C variants or haplotypes that may influence LAA stroke susceptibility in the Chinese Han population.

Main Methods:

  • A case-control study involving 192 LAA stroke patients and 192 healthy controls.
  • Genotyping of four CACNA1C SNPs (rs229961, rs215976, rs216008, rs10848683) using multiplex tagged-amplicon deep sequencing (TAm-Seq).
  • Statistical analyses including chi-squared tests and binary logistic regression, with adjustments for gender and age.

Main Results:

  • The SNP rs10848683 showed a significant association with LAA stroke risk in allele models (p=0.036) and recessive models (p=0.027).
  • Specific haplotypes of CACNA1C, including C-T-C-C (p=0.017), G-C-C-C (p=0.046), and C-T-C-T (p=0.001), were significantly associated with LAA stroke risk.
  • Odds ratios (OR) and 95% confidence intervals (CI) indicated both increased and decreased risks associated with these variants and haplotypes.

Conclusions:

  • The CACNA1C gene, specifically certain SNPs and haplotypes, may play a role in the risk of large-artery atherosclerotic stroke in the Chinese Han population.
  • These findings contribute to understanding the genetic basis of ischemic stroke and may inform future risk prediction strategies.
  • Further research is warranted to validate these associations and explore the underlying biological mechanisms.

Keywords:
CACNA1Clarge-artery atherosclerotic strokesingle-nucleotide polymorphism

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