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

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 (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.

journal_name

Pediatr Cardiol

journal_title

Pediatric cardiology

authors

Kwon YC,Kim JJ,Yu JJ,Yun SW,Yoon KL,Lee KY,Kil HR,Kim GB,Han MK,Song MS,Lee HD,Ha KS,Sohn S,Hong YM,Jang GY,Lee JK,Korean Kawasaki Disease Genetics Consortium.

doi

10.1007/s00246-018-1992-7

subject

Has Abstract

pub_date

2019-03-01 00:00:00

pages

483-488

issue

3

eissn

0172-0643

issn

1432-1971

pii

10.1007/s00246-018-1992-7

journal_volume

40

pub_type

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