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Updated: Apr 15, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Update of genetic susceptibility in patients with Kawasaki disease

Kyung Lim Yoon1

  • 1Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea.

Korean Journal of Pediatrics
|April 11, 2015
PubMed

Insights

Genetic research offers insights into Kawasaki disease (KD) pathogenesis, identifying susceptibility genes linked to treatment resistance and coronary artery lesions (CAL) in children. This knowledge may lead to new therapies for high-risk KD patients.

Area of Science:

  • Pediatric Rheumatology
  • Immunology
  • Genetics

Background:

  • Kawasaki disease (KD) is an acute systemic vasculitis affecting children, potentially causing coronary artery lesions (CAL).
  • Patients with KD resistant to intravenous immunoglobulin (IVIG) and those with incomplete KD face higher CAL risks.
  • The precise pathogenesis of KD remains elusive, but genetic factors are increasingly implicated.

Purpose of the Study:

  • To retrospectively review genetic research on KD susceptibility genes.
  • To explore the role of genetics in KD pathogenesis, IVIG resistance, and CAL development.
  • To identify potential genetic targets for novel therapeutic strategies.

Main Methods:

  • Retrospective review of existing genetic studies on Kawasaki disease.
  • Analysis of identified genetic polymorphisms and their association with KD, IVIG resistance, and CAL.
  • Examination of immune system factors like Th17/Treg imbalance in KD pathogenesis.

Main Results:

  • Numerous potential susceptibility genes identified, including polymorphisms in ITPKC, CASP3, TGF-β pathway, BTK, FCGR2A, and KCNN2.
  • Evidence suggests a role for genetic factors in KD pathogenesis and progression to CAL.
  • An imbalance in Th17/Treg cells is noted as a potential factor in KD.

Conclusions:

  • Genetic research is crucial for understanding Kawasaki disease pathogenesis.
  • Identifying susceptibility genes can improve risk stratification for CAL development.
  • Findings may facilitate the development of targeted treatments for high-risk KD patients.

Keywords:
Coronary artery lesionGenetic susceptibilityKawasaki diseasePolymorphism

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