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Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A

Title
Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A
Authors
Sim, Bo KyungPark, HyeinKim, Jae-JungYun, Sin WeonYu, Jeong JinYoon, Kyung LimLee, Kyung-YilKil, Hong-RyangKim, Gi BeomHan, Myung-KiSong, Min SeobLee, Hyoung DooHa, Kee SooSohn, SejungHong, Young MiJang, Gi YoungLee, Jong-KeukKorean Kawasaki Dis Genetics
Ewha Authors
홍영미손세정
SCOPUS Author ID
홍영미scopus; 손세정scopus
Issue Date
2019
Journal Title
KOREAN CIRCULATION JOURNAL
ISSN
1738-5520JCR Link

1738-5555JCR Link
Citation
KOREAN CIRCULATION JOURNAL vol. 49, no. 1, pp. 99 - 108
Keywords
Mucocutaneous lymph node syndromeGenome-wide association studyPolymorphismsingle nucleotide
Publisher
KOREAN SOC CARDIOLOGY
Indexed
SCIE; SCOPUS; KCI WOS
Document Type
Article
Abstract
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.
DOI
10.4070/kcj.2018.0224
Appears in Collections:
의과대학 > 의학과 > Journal papers
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