Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing
- Author:
Jae-Jung KIM
1
;
Young Mi HONG
;
Sin Weon YUN
;
Kyung-Yil LEE
;
Kyung Lim YOON
;
Myung-Ki HAN
;
Gi Beom KIM
;
Hong-Ryang KIL
;
Min Seob SONG
;
Hyoung Doo LEE
;
Kee Soo HA
;
Hyun Ok JUN
;
Byung-Ok CHOI
;
Yeon-Mok OH
;
Jeong Jin YU
;
Gi Young JANG
;
Jong-Keuk LEE
;
Author Information
- Publication Type:Original article
- From:Genomics & Informatics 2021;19(4):e38-
- CountryRepublic of Korea
- Language:English
- Abstract: Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.
