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28.09.2018 | Original Article | Ausgabe 3/2019

Pediatric Cardiology 3/2019

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

Pediatric Cardiology > Ausgabe 3/2019
Young-Chang Kwon, Jae-Jung Kim, Jeong Jin Yu, Sin Weon Yun, 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, Young Mi Hong, Gi Young Jang, Jong-Keuk Lee, Korean Kawasaki Disease Genetics Consortium
Wichtige Hinweise

Electronic supplementary material

The online version of this article (https://​doi.​org/​10.​1007/​s00246-018-1992-7) contains supplementary material, which is available to authorized users.
Young Mi Hong, Gi Young Jang, and Jong-Keuk Lee have contributed equally to this study.
Collaborators of the Korean Kawasaki Disease Genetics Consortium are listed in “Acknowledgements” section.


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, Pcombined = 1.95 × 10−7). These results indicate that the TIFAB gene may act as a CAA susceptibility locus in patients with KD.

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Supplementary material 1 (DOCX 83 KB)
Supplementary material 2 (DOCX 72 KB)
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