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HLA class III genes involvement in Kawasaki disease: a case-control study in Caucasian population

Elisa Maggioli1, Chiara Boiocchi, Michele Zorzetto

  • 1Laboratory of Immunogenetics, Department of Biology & Biotechnology "L.Spallanzani", University of Pavia, Pavia, Italy.

International Journal of Immunogenetics
|July 23, 2013
PubMed

Insights

Genetic analysis of Kawasaki disease (KD) reveals significant variations in specific gene polymorphisms, particularly within the Tumor Necrosis Factor (TNF) and Heat Shock Protein (HSPA) genes. These findings suggest a potential genetic link to KD susceptibility.

Area of Science:

  • Immunogenetics
  • Pediatric Rheumatology
  • Molecular Biology

Background:

  • Kawasaki disease (KD) is an acute febrile vasculitis affecting young children, with unknown etiological factors.
  • Clinical variability in KD has hindered the identification of causative agents.
  • Emerging evidence highlights the roles of genetics and immune system dysregulation in KD pathogenesis.

Purpose of the Study:

  • To investigate the association between functional polymorphisms in Human Leukocyte Antigen (HLA) class III genes and Kawasaki disease susceptibility.
  • To analyze genetic variations in AGER, TNF, HSPA1A, HSPA1B, and HSPA1L genes in Caucasian KD patients and healthy controls.

Main Methods:

  • Genomic DNA was analyzed from 74 Caucasian KD cases and 440 healthy controls.
  • Functional polymorphisms in AGER, TNF, HSPA1A, HSPA1B, and HSPA1L genes were characterized.
  • Allele, genotype, and haplotype frequencies were compared using chi-squared and Fisher's exact tests.

Main Results:

  • Significant deviations were observed in TNF (-308 and -238) and HSPA1A (+190), HSPA1L (+2437) polymorphism genotype and allele frequencies between KD patients and controls.
  • A statistically significant decrease in the CG haplotype for TNF -238 and HSPA1L was noted in KD patients.
  • Specific genotypes (TNF -308 GG, TNF -238 AA, HSPA1A +190 GC, HSPA1L +2437 TT/TC) and alleles (HSPA1L T/C) showed significant associations with KD.

Conclusions:

  • The study suggests a potential involvement of the HLA class III region in Kawasaki disease susceptibility.
  • Specific genetic polymorphisms in TNF and HSPA genes may influence KD risk.
  • The decreased frequency of the TNF -238/HSPA1L CG haplotype may confer protection against KD-related inflammation.

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