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Shared genetic associations between CHA2DS2-VASc score and cardio-embolic stroke: Insights from mendelian

Kang Yuan1, Xianshu Huo1, Mengdi Xie1

  • 1Department of Neurology, Affiliated Jinling Hospital, Medical School of Nanjing University, Nanjing, 210002, China.

International Journal of Cardiology. Cardiovascular Risk and Prevention
|December 30, 2025
PubMed

Insights

This study found shared genetic links between the CHA2DS2-VASc score and cardio-embolic stroke (CES). These findings suggest common genetic factors influence both conditions, potentially involving immune responses.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Neurology

Background:

  • The CHA2DS2-VASc score predicts cardio-embolic stroke (CES) risk, hinting at shared genetic factors.
  • Understanding these genetic links can improve risk assessment and identify therapeutic targets.

Purpose of the Study:

  • To investigate the shared genetic associations between the CHA2DS2-VASc score and CES.
  • To identify specific genetic loci, SNPs, and genes implicated in both conditions.

Main Methods:

  • Utilized summary statistics from large-scale genome-wide association studies (GWAS) for 13 CHA2DS2-VASc score traits and CES.
  • Employed linkage disequilibrium score regression (LDSC), cross-trait analysis, Mendelian randomization, colocalization, and gene-based association analyses.

Main Results:

  • Significant genetic correlation was found between the CHA2DS2-VASc score and CES via LDSC and Mendelian randomization.
  • Identified 9 potential shared loci and 13 significant independent SNPs through cross-trait and colocalization analyses.
  • Nine genes were significant across multiple methods, with IL6R identified by all four, suggesting shared immune and inflammatory pathways.

Conclusions:

  • The study confirms shared genetic associations between the CHA2DS2-VASc score and CES.
  • Evidence supports a causal relationship, shared genetic loci, and genetic correlations between these conditions.
  • IL6R emerges as a key shared gene, highlighting the role of immune responses in cardio-embolic stroke pathogenesis.

Keywords:
CHA2DS2-VASc scoreCardio-embolic strokeGenome-wide association studyMechanismsMendelian randomization analysis

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