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Updated: Mar 1, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Molecular genetics of Kawasaki disease

Yoshihiro Onouchi1

  • 1Laboratory for Cardiovascular Diseases, Center for Genomic Medicine, RIKEN, Yokohama, Kanagawa 230-0045, Japan. onouchi@src.riken.jp

Pediatric Research
|February 5, 2009
PubMed

Insights

Kawasaki disease (KD) pathogenesis remains unknown. Genetic factors are crucial, with recent genome-wide studies highlighting the Ca2+/nuclear factor of activated T-cells pathway

Area of Science:

  • Pediatric cardiology
  • Immunology
  • Genetics

Background:

  • Kawasaki disease (KD) is a significant cause of acquired pediatric heart disease.
  • The exact cause of KD remains unidentified despite decades of research.
  • Genetic predisposition is suspected, with candidate gene studies identifying potential risk factors.

Purpose of the Study:

  • To review existing candidate gene association studies for KD.
  • To present novel findings from a genome-wide association study (GWAS).
  • To elucidate the role of specific genetic pathways in KD pathogenesis.

Main Methods:

  • Review of published candidate gene association studies.
  • Genome-wide association study (GWAS) analysis.
  • Analysis of the Ca2+/nuclear factor of activated T-cells (NFAT) pathway.

Main Results:

  • Candidate gene studies have identified several potential susceptibility loci for KD.
  • GWAS revealed significant associations, underscoring the importance of genetic components.
  • The Ca2+/NFAT pathway emerged as critically important in KD pathogenesis.

Conclusions:

  • Genetic factors play a substantial role in Kawasaki disease etiology.
  • The Ca2+/NFAT pathway is a key player in the development of KD.
  • Further large-scale replication studies are needed to confirm candidate genes.

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