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September 19, 2025Open Access

Genomic structural equation modeling reveals shared genetic structure of cardiac function and structure-function association studies of CLCNKA mutations

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Authors

XLXiaolin LiSouthwest Medical UniversityYQYalu QinYanshan University

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Implication

Genomic-SEM reveals shared genetic factors in cardiac function and identifies CLCNKA mutations' impacts.

Key Points

  • Genomic-SEM identified a latent genetic factor explaining covariation in cardiac function phenotypes.
  • GWAS and fine-mapping highlighted six causal loci and 29 significant genes related to cardiac function.
  • Integration of molecular dynamics simulations indicated CLCNKA mutations disrupt protein stability and function.
  • Findings contribute to our understanding of genetic regulation and strategies for precision medicine in cardiac conditions.

Cite This Study

Li et al. (2025) studied this question.

synapsesocial.com/papers/68d466c431b076d99fa65f02https://doi.org/10.21203/rs.3.rs-7363435/v1
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