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Korean Circ J. 2019 Jan;49(1):99-108. English. Original Article. https://doi.org/10.4070/kcj.2018.0224
Sim BK , Park H , Kim JJ , Yun SW , Yu JJ , Yoon KL , Lee KY , Kil HR , Kim GB , Han MK , Song MS , Lee HD , Ha KS , Sohn S , Hong YM , Jang GY , Lee JK , .
Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea. cookie_jklee@hotmail.com
Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea.
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
Department of Pediatrics, Daejeon St. Mary's Hospital, The Catholic University of Korea, Daejeon, Korea.
Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea.
Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Department of Pediatrics, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea.
Department of Pediatrics, Inje University Paik Hospital, Busan, Korea.
Department of Pediatrics, Pusan National University Hospital, Busan, Korea.
Department of Pediatrics, Korea University Hospital, Seoul, Korea.
Department of Pediatrics, Ewha Womans University Medical Center, Seoul, Korea.
Abstract

Background and Objectives

Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical heterogeneity of KD patients using the KD-associated genetic variants.

Methods

We performed a genetic association analysis in several KD subgroups categorized by clinical characteristics using the KD-associated variants of the B lymphoid tyrosine kinase (BLK; rs6993775) and Fc gamma receptor II a (FCGR2A; rs1801274) in a large number of case (n=1,011) and control (n=4,533) samples.

Results

BLK and FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR],1.48; p=4.63×10⁻¹¹ for BLK, and OR, 1.26; p=1.42×10⁻⁴ for FCGR2A). However, in KD subgroup analysis, we found that neither BLK nor FCGR2A were associated with either incomplete Kawasaki disease (iKD) type patients or those older than 5 years of age (p>0.2), suggesting that patients with iKD or those older than 5 years of age are a unique subgroup of KD. In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLK was associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35×10⁻⁵).

Conclusions

KD is a clinically and genetically heterogeneous disease. These findings will provide new insights into the clinical and genetic heterogeneity of KD.

Copyright © 2019. Korean Association of Medical Journal Editors.