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Genome-Wide Copy Number Variation Association Study of Atrial Fibrillation Related Thromboembolic Stroke

Chia-Shan Hsieh1,2, Pang-Shuo Huang3, Sheng-Nan Chang4

  • 1Department of Life Science, Genome and Systems Biology Degree Program, National Taiwan University, No. 1, Sec. 4, Roosevelt Rd., Taipei 106, Taiwan. cometrise@gmail.com.

Journal of Clinical Medicine
|March 13, 2019
PubMed

Insights

Copy number variations (CNVs) are identified as genetic predictors for thromboembolic stroke risk in atrial fibrillation (AF) patients. These genetic factors may indicate an impaired alpha-adrenergic signaling pathway, offering new insights into AF-related stroke mechanisms.

Area of Science:

  • Genetics
  • Cardiology
  • Genomics

Background:

  • Atrial fibrillation (AF) is a prevalent cardiac arrhythmia and a primary cause of ischemic stroke.
  • While clinical scores assess stroke risk, the role of genetic factors, including copy number variations (CNVs), in AF-related thromboembolism remains largely unexplored.
  • Previous studies identified single-nucleotide polymorphisms associated with AF, but these do not account for all genetic predispositions.

Purpose of the Study:

  • To identify specific CNVs that determine the risk of thromboembolic stroke in patients with atrial fibrillation.
  • To investigate the potential genetic underpinnings of AF-related stroke beyond known clinical risk factors and single-nucleotide polymorphisms.

Main Methods:

  • A genome-wide approach was employed, analyzing 109 AF patients with thromboembolic stroke against 14,666 controls from the Taiwanese Biobank.
  • Statistical analysis identified chromosomal regions with significant deletions or amplifications associated with AF-related stroke.
  • Pathway analysis was conducted on identified genes within these regions, focusing on affected signaling pathways.

Main Results:

  • Significant deletions were found in chromosomal regions 1p36.32-1p36.33, 5p15.33, 8q24.3, and 19p13.3, and amplifications in 14q11.2, associated with AF-related stroke in the Taiwanese population.
  • These regions encompass 148 genes, including microRNAs and long non-coding RNAs.
  • Pathway analysis revealed deletions in genes like GNB1, PRKCZ, and GNG7, implicated in the alpha-adrenergic receptor signaling pathway, which is crucial for AF-related stroke risk.

Conclusions:

  • Copy number variations (CNVs) represent potential genetic predictors for thromboembolic stroke risk in atrial fibrillation patients.
  • The findings suggest a possible link between impaired alpha-adrenergic signaling and the mechanism of AF-related thromboembolism.
  • Further research into CNVs and related pathways could enhance risk stratification and therapeutic strategies for AF patients.

Keywords:
atrial fibrillationcopy number variationgenome-widethromboembolic stroke

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