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KMID : 0368120190490010099
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Korean Circulation Journal
2019 Volume.49 No. 1 p.99 ~ p.108
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Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A
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Sim Bo-Kyung
Park Hye-In
Kim Jae-Jung
Yun Sin-Weon
Yu Jeong-Jin
Yoon Kyung-Lim
Lee Kyung-Yil
Kil Hong-Ryang
Kim Gi-Beom
Han Myung-Ki
Song Min-Seob
Lee Hyoung-Doo
Ha Kee-Soo
Sohn Se-Jung
Jang Gi-Young
Lee Jong-Keuk
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Abstract
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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.
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KEYWORD
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Mucocutaneous lymph node syndrome, Genome-wide association study, Polymorphism, single nucleotide
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