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Integrin-focal adhesion-cytoskeleton signaling axis variations and genetic susceptibility to SCD-CAD

Mengqi Cai1, Yan He2, Haoliang Meng1

  • 1Department of Forensic Medicine, Suzhou Medical College of Soochow University, Suzhou, China.

Forensic Science International
|May 11, 2026
PubMed

Insights

Genetic variations in the integrin-focal adhesion-cytoskeleton axis influence sudden cardiac death (SCD) risk in coronary artery disease (CAD). Researchers identified protective variants and a risk haplotype, suggesting potential for cardiovascular risk assessment.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Cell Biology

Background:

  • Sudden cardiac death (SCD) is a major cause of mortality, primarily due to coronary artery disease (CAD).
  • Vascular smooth muscle cell (VSMC) migration and proliferation are critical in CAD pathogenesis, regulated by the actin cytoskeleton.
  • The genetic underpinnings of the integrin-focal adhesion-cytoskeleton signaling axis in SCD-CAD remain largely unexplored.

Purpose of the Study:

  • To investigate the association between insertion-deletion (indel) polymorphisms in key genes of the integrin-focal adhesion-cytoskeleton axis and SCD-CAD risk.
  • To identify genetic variants and haplotypes that may contribute to SCD-CAD susceptibility.
  • To explore the causal relationship between specific gene expressions and cardiovascular risk using Mendelian randomization.

Main Methods:

  • Case-control study involving 239 SCD-CAD cases and 594 healthy controls from a southern Chinese Han population.
  • Genotyping of 10 indel polymorphisms across eight genes using multiplex fluorescent PCR and capillary electrophoresis (CE).
  • Statistical analyses including logistic regression, haplotype analysis, and Mendelian randomization (MR).

Main Results:

  • Three single nucleotide polymorphisms (SNPs) were identified as protective variants against SCD-CAD: rs10599004 (OR=0.78), rs143263543 (OR=0.70), and rs58213835 (OR=0.80).
  • A significant risk haplotype (ins-rs149617239-ins-rs58213835) was found in the BCAR1 gene (p=0.007).
  • MR analysis indicated that genetically predicted BCAR1, CRK, and DOCK1 expression are causally linked to cardiovascular risk.

Conclusions:

  • The integrin-focal adhesion-cytoskeleton signaling axis plays a role in SCD-CAD susceptibility.
  • Identified genetic markers may serve as potential tools for cardiovascular risk assessment and forensic molecular autopsy.
  • Further large-scale studies and functional assays are needed to confirm findings and elucidate mechanisms.

Keywords:
BCAR1CRKCoronary artery diseaseDOCK1Indel variantSudden cardiac death

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