Genetic susceptibility to Kawasaki disease: Analysis of pattern recognition receptor genes

Sagano Onoyama, Kenji Ihara, Yui Yamaguchi, Kazuyuki Ikeda, Kenichiro Yamaguchi, Kenichiro Yamamura, Takayuki Hoshina, Yumi Mizuno, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


Kawasaki disease (KD) is a systemic vasculitis of unknown etiology occurring in infants and children. Several lines of evidence suggested the importance of genetic factors and infectious triggers for the pathogenesis of KD. We have reported that oral administration of a pure NOD1 ligand induces coronary arteritis in mice without fail. Since NOD1 is one of the pattern recognition receptors (PRRs) which play important roles in the innate immunity for the detection of microbial substances and induce inflammatory responses, we have investigated the association of PRR genes with the development of KD. Forty-six tagging-SNPs in 19 PRR genes were genotyped in Japanese KD patients (n= 356, consisting of two groups) and controls (n= 215). The genotypes and allele frequencies of each SNP or haplotype were compared between KD patients and controls. As a result, we did not find any genes with strongly contributed to the development of KD. A haplotype, G-T-C-C, in the NOD1 gene, was associated with lower risk for KD development (KD 1st group versus controls: 23.2% versus 35.3%, Pc= 0.0385). The second-round case-control study in KD group 2 demonstrated that a haplotype, T-T-C-G-A-C, in the NLRP1 gene was associated with a higher risk for KD development (4.9% versus 1.2%, Pc= 0.035). From the association analysis of SNPs and haplotypes of 19 PRR genes, NOD1 and NLRP1 seemed to partly contribute to the development of KD. Further analysis with larger samples of another independent set would be needed to find confirmative results.

Original languageEnglish
Pages (from-to)654-660
Number of pages7
JournalHuman Immunology
Issue number6
Publication statusPublished - Jun 2012

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology


Dive into the research topics of 'Genetic susceptibility to Kawasaki disease: Analysis of pattern recognition receptor genes'. Together they form a unique fingerprint.

Cite this