Identification of the TIFAB Gene as a Susceptibility Locus for Coronary Artery Aneurysm in Patients with Kawasaki Disease

Korean Kawasaki Disease Genetics Consortium

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


Kawasaki disease (KD) is a self-limiting systemic vasculitis of unknown etiology. KD is often complicated by coronary artery aneurysms (CAAs), which develop in about 20–25% of untreated children and 3–5% of children treated with intravenous immunoglobulin therapy. To identify the risk loci for CAA susceptibility in patients with KD, we performed a genome-wide association study (GWAS) using our previous Illumina HumanOmni1-Quad BeadChip data (296 KD patients) and a new replication study in an independent sample set (713 KD patients) by grouping KD patients without CAA (control) versus KD patients with extremely large aneurysms (diameter ≥ 5 mm) (case). Among 44 candidate single -nucleotide polymorphisms (SNPs) selected from the initial GWAS data (33 cases vs. 215 controls), a SNP (rs899162) located 7 kb upstream of the TIFAB gene on chromosome five was replicated in an independent sample (12 cases vs. 532 controls). In the combined analysis (45 cases vs. 747 controls), the SNP (rs899162) showed a highly significant association with CAA formation (diameter ≥ 5 mm) in patients with KD (odds ratio = 3.20, 95% confidence interval = 2.02–5.05, P combined = 1.95 × 10 −7 ). These results indicate that the TIFAB gene may act as a CAA susceptibility locus in patients with KD.

Original languageEnglish
Pages (from-to)483-488
Number of pages6
JournalPediatric Cardiology
Issue number3
Publication statusPublished - 2019 Mar 15


  • Coronary artery aneurysm
  • Genome-wide association study
  • Kawasaki disease
  • Single-nucleotide polymorphism
  • TRAF-interacting protein with FHA domain-containing protein B

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Cardiology and Cardiovascular Medicine


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