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Updated: Jun 14, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

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Association of mannose-binding lectin gene polymorphisms with Kawasaki disease in the Japanese

Satoshi Sato1, Hisashi Kawashima, Yasuyo Kashiwagi

  • 1Department of Pediatrics, Tokyo Medical University, Tokyo, Japan. sato115@tokyo-med.ac.jp

International Journal of Rheumatic Diseases
|April 9, 2010
PubMed

Insights

Mutations in the mannose-binding lectin (MBL) gene, particularly at codon 54, may be linked to Kawasaki disease (KD) in children. This suggests a potential role for MBL gene variations in KD pathogenesis.

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • Kawasaki disease (KD) is a childhood systemic vasculitis with unknown etiology.
  • Infections are suspected to play a role in KD pathogenesis.
  • Human mannose-binding lectin (MBL) is crucial for the innate immune system in children.

Purpose of the Study:

  • To investigate the association between MBL gene polymorphisms and Kawasaki disease occurrence.
  • To analyze MBL gene variants in the Japanese population.

Main Methods:

  • Genotyping of MBL gene mutations (codons 52, 54, 57) and promoter variants.
  • Analysis of MBL genotype frequencies in 45 KD patients and a control group.

Main Results:

  • Significantly higher frequencies of MBL codon-54 heterozygote (GGC/GAC) and promoter variants were observed in KD patients compared to controls (P < 0.05).
  • No significant differences in codon 52 or 57 polymorphisms were found between groups.

Conclusions:

  • MBL gene mutations, especially at codon 54, may be associated with the trigger of Kawasaki disease pathogenesis.
  • Further research into MBL gene variations could elucidate KD etiology.
Abstract

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