A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease

Jae Jung Kim, Young Mi Hong, Saejung Sohn, Gi Young Jang, Kee Soo Ha, Sin Weon Yun, Myung Ki Han, Kyung Yil Lee, Min Seob Song, Hyoung Doo Lee, Dong Soo Kim, Jong Eun Lee, Eun Soon Shin, Ji Hyun Jang, Yeon Su Lee, Sook Young Kim, Jong Young Lee, Bok Ghee Han, Jer Yuarn Wu, Kwi Joo KimYoung Mi Park, Eul Joo Seo, In Sook Park, Jong Keuk Lee

Research output: Contribution to journalArticlepeer-review

73 Citations (Scopus)


Kawasaki disease (KD) is an acute self-limited vasculitis of infants and children that manifests as fever and signs of mucocutaneous inflammation. Coronary artery aneurysms develop in approximately 15-25% of untreated children. Although the etiology of KD is largely unknown, epidemiologic data suggest the importance of genetic factors in the susceptibility to KD. In order to identify genetic variants that influence KD susceptibility, we performed a genome-wide association study (GWAS) using Affymetrix SNP array 6.0 in 186 Korean KD patients and 600 healthy controls; 18 and 26 genomic regions with one or more sequence variants were associated with KD and KD with coronary artery lesions (CALs), respectively (p < 1 × 10-5). Of these, one locus on chromosome 1p31 (rs527409) was replicated in 266 children with KD and 600 normal controls (odds ratio [OR] = 2.90, 95% confidence interval [CI] = 1.85-4.54, P combined = 1.46 × 10-6); and a PELI1 locus on chromosome 2p13.3 (rs7604693) was replicated in 86 KD patients with CALs and 600 controls (OR = 2.70, 95% CI = 1.77-4.12, P combined = 2.00 × 10-6). These results implicate a locus in the 1p31 region and the PELI1 gene locus in the 2p13.3 region as susceptibility loci for KD and CALs, respectively.

Original languageEnglish
Pages (from-to)487-495
Number of pages9
JournalHuman Genetics
Issue number5
Publication statusPublished - 2011 May
Externally publishedYes

Bibliographical note

Funding Information:
Acknowledgments We thank all patients with Kawasaki disease and their families for participating in this study. We also thank Dr. Kyunga Kim and Dr. Sang-Hoon Moon for statistical and bioinformatics support, respectively. This work was supported by a grant from the Ministry of Health & Welfare of the Republic of Korea (A010384).

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease'. Together they form a unique fingerprint.

Cite this