Genomics Inform.
2021 Dec;19(4):e38. 10.5808/gi.21046.
Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing
- Kim JJ
1 - Hong YM2
- Yun SW3
- Lee KY4
- Yoon KL5
- Han MK6
- Kim GB7
- Kil HR8
- Song MS9
- Lee HD10
- Ha KS11
- Jun HO12
- Choi BO13
- Oh YM14
- Yu JJ15
- Jang GY11,16
- Lee JK1
- The Korean Kawasaki Disease Genetics Consortium1
- Affiliations
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- 1Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea
- 2Department of Pediatrics, Ewha Womans University Hospital, Seoul 07985, Korea
- 3Department of Pediatrics, Chung-Ang University Hospital, Seoul 06973, Korea
- 4Department of Pediatrics, Daejeon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Daejeon 34943, Korea
- 5Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul 05278, Korea
- 6Department of Pediatrics, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung 25440, Korea
- 7Department of Pediatrics, Seoul National University Children's Hospital, Seoul 03080, Korea
- 8Department of Pediatrics, Chungnam National University Hospital, Daejeon 35015, Korea
- 9Department of Pediatrics, Inje University Paik Hospital, Busan 47392, Korea
- 10Department of Pediatrics, Pusan National University Hospital, Busan 49241, Korea
- 11Department of Pediatrics, Korea University Guro Hospital, Seoul 08308, Korea
- 12Department of Pediatrics and Adolescent Medicine, Myongji Hospital, Goyang 10475, Korea
- 13Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 04401, Korea
- 14Department of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea
- 15Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul 05505, Korea
- 16Department of Pediatrics, Korea University Ansan Hospital, Ansan 15355, Korea
- KMID: 2524329
- DOI: http://doi.org/10.5808/gi.21046
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.
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