A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease

Jae Jung Kim, Sin Weon Yun, Jeong Jin Yu, Kyung Lim Yoon, Kyung Yil Lee, Hong Ryang Kil, Gi Beom Kim, Myung Ki Han, Min Seob Song, Hyoung Doo Lee, Kee Soo Ha, Sejung Sohn, Todd A. Johnson, Atsushi Takahashi, Michiaki Kubo, Tatsuhiko Tsunoda, Kaoru Ito, Yoshihiro Onouchi, Young Mi Hong, Gi Young JangJong Keuk Lee

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33 Citations (Scopus)


Kawasaki disease (KD), a systemic vasculitis of infants and children, manifests as fever and mucocutaneous inflammation. Although its etiology is largely unknown, the epidemiological data suggest that genetic factors are important in KD susceptibility. To identify genetic variants influencing KD susceptibility, we performed a genome-wide association study (GWAS) and replication study using a total of 915 children with KD and 4553 controls in the Korean population. Six single-nucleotide polymorphisms (SNPs) in three loci were associated significantly with KD susceptibility (Po1.0 × 10-5), including the previously reported BLK locus (rs6993775, odds ratio (OR)=1.52, P=2.52 × 10-11). The other two loci were newly identified: NMNAT2 on chromosome 1q25.3 (rs2078087, OR=1.33, P=1.15 × 10-6) and the human leukocyte antigen (HLA) region on chromosome 6p21.3 (HLA-C, HLA-B, MICA and HCP5) (rs9380242, rs9378199, rs9266669 and rs6938467; OR=1.33-1.51, P=8.93 × 10-6 to 5.24 × 10-8). Additionally, SNP rs17280682 in NLRP14 was associated significantly with KD with a family history (18 cases vs 4553 controls, OR=6.76, P=5.46 × 10-6). These results provide new insights into the pathogenesis and pathophysiology of KD.

Original languageEnglish
Pages (from-to)1023-1029
Number of pages7
JournalJournal of Human Genetics
Issue number12
Publication statusPublished - 2017 Dec 1
Externally publishedYes

Bibliographical note

Funding Information:
We thank all the patients with Kawasaki disease and their families for participating in this study. This work was supported by a grant from the Ministry of Health & Welfare of the Republic of Korea (HI15C1575) and a grant from the Korea Center for Disease Control and Prevention (2014-ER7402-00).

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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