Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A
- 주제(키워드) Mucocutaneous lymph node syndrome , Genome-wide association study , Polymorphism , single nucleotide
- 주제(기타) Cardiac & Cardiovascular Systems
- 설명문(일반) [Sim, Bo Kyung; Park, Hyein; Kim, Jae-Jung; Lee, Jong-Keuk] Univ Ulsan, Asan Inst Life Sci, Coll Med, 88 Olymp Ro 43 Gil, Seoul 05505, South Korea; [Yun, Sin Weon] Chung Ang Univ Hosp, Dept Pediat, Seoul, South Korea; [Yu, Jeong Jin] Univ Ulsan, Asan Med Ctr, Dept Pediat, Coll Med, Seoul, South Korea; [Yoon, Kyung Lim] Kyung Hee Univ Hosp Gangdong, Dept Pediat, Seoul, South Korea; [Lee, Kyung-Yil] Catholic Univ Korea, Daejeon St Marys Hosp, Dept Pediat, Daejeon, South Korea; [Kil, Hong-Ryang] Chungnam Natl Univ Hosp, Dept Pediat, Daejeon, South Korea; [Kim, Gi Beom] Seoul Natl Univ Childrens Hosp, Dept Pediat, Seoul, South Korea; [Han, Myung-Ki] Univ Ulsan, Gangneung Asan Hosp, Dept Pediat, Coll Med, Kangnung, South Korea; [Song, Min Seob] Inje Univ, Dept Pediat, Paik Hosp, Busan, South Korea; [Lee, Hyoung Doo] Pusan Natl Univ Hosp, Dept Pediat, Busan, South Korea; [Ha, Kee Soo; Jang, Gi Young] Univ Korea Hosp, Dept Pediat, Seoul, South Korea; [Sohn, Sejung; Hong, Young Mi] Ewha Womans Univ, Dept Pediat, Med Ctr, Seoul, South Korea
- 등재 SCIE, SCOPUS, KCI등재
- OA유형 hybrid, Green Published
- 발행기관 KOREAN SOC CARDIOLOGY
- 발행년도 2019
- URI http://www.dcollection.net/handler/ewha/000000159741
- 본문언어 영어
- Published As http://dx.doi.org/10.4070/kcj.2018.0224
- PubMed https://pubmed.ncbi.nlm.nih.gov/30468029
초록/요약
Background and objectives: Patients with Kawasaki disease (KU) 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: BLKand FCGR2A were very significantly associated with KD in Korean KD patients (odds ratio [OR),1.48; p=4.63x10(-11) for BLK, and OR, 1.26; p=1.42x10(-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 Ka In genetic association analysis after excluding iKD patients and those older than 5 years old, we found that BLKwas associated with all KD subgroups, whereas FCGR2A was specifically associated with male KD patients younger than 1 year of age (OR, 2.22; p=2.35x10(-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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