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

Authors
Kwon, Young-ChangKim, Jae-JungYu, Jeong JinYun, Sin WeonYoon, Kyung LimLee, Kyung-YilKil, Hong-RyangKim, Gi BeomHan, Myung-KiSong, Min SeobLee, Hyoung DooHa, Kee SooSohn, SejungHong, Young MiJang, Gi YoungLee, Jong-KeukPark, In-SookHong, Soo-JongKim, Kwi-JooNam, Hyo-KyoungByeon, Jung-HyeRhim, Jung-WooKim, Dong SooLee, Jae-MooKim, Jong-Duk
Issue Date
3월-2019
Publisher
SPRINGER
Keywords
Kawasaki disease; Coronary artery aneurysm; TRAF-interacting protein with FHA domain-containing protein B; Single-nucleotide polymorphism; Genome-wide association study
Citation
PEDIATRIC CARDIOLOGY, v.40, no.3, pp.483 - 488
Indexed
SCIE
SCOPUS
Journal Title
PEDIATRIC CARDIOLOGY
Volume
40
Number
3
Start Page
483
End Page
488
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/67089
DOI
10.1007/s00246-018-1992-7
ISSN
0172-0643
Abstract
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 (diameter5mm) (case). Among 44 candidate single -nucleotide polymorphisms (SNPs) selected from the initial GWAS data (33 cases vs. 215 controls), a SNP (rs899162) located 7kb 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 (diameter5mm) in patients with KD (odds ratio=3.20, 95% confidence interval=2.02-5.05, P-combined=1.95x10(-7)). These results indicate that the TIFAB gene may act as a CAA susceptibility locus in patients with KD.
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