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Updated: Feb 27, 2026

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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[Susceptibility genes for Kawasaki disease]
Yoshihiro Onouchi1, Akira Hata
1Laboratory for Gastrointestinal Diseases, SNP Research Center, RIKEN.
Nihon Rinsho. Japanese Journal of Clinical Medicine
|February 12, 2008
Summary
Researchers identified specific genetic markers associated with Kawasaki disease (KD) in Japanese and US populations. This discovery advances understanding of KD
Area of Science:
- Genetics
- Immunology
- Pediatrics
Context:
- Kawasaki disease (KD) etiology remains unknown.
- Epidemiological data suggests genetic predisposition.
- Previous studies indicate a genetic component in KD.
Purpose:
- Identify susceptibility genes for Kawasaki disease.
- Utilize affected sibpair analysis in Japanese families.
- Perform linkage disequilibrium mapping with SNPs.
Summary:
- Affected sibpair analysis of 78 Japanese KD families revealed linkage signals in 10 chromosomal loci.
- Single nucleotide polymorphisms (SNPs) significantly associated with KD were identified in one locus.
- Association was observed in both Japanese and US populations.
Impact:
- Advances understanding of Kawasaki disease genetic basis.
- Potential for new diagnostic and therapeutic strategies.
- Facilitates further functional investigation of identified genes.
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