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: BLKand FCGR2Awere 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 BLKnor FCGR2Awere 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 BLKwas associated with all KD subgroups, whereas FCGR2Awas 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.
| Original language | English |
|---|---|
| Pages (from-to) | 99-108 |
| Number of pages | 10 |
| Journal | Korean Circulation Journal |
| Volume | 49 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2019 Jan 1 |
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Keywords
- Genome-wide association study
- Mucocutaneous lymph node syndrome
- Polymorphism
- Single nucleotide
ASJC Scopus subject areas
- Internal Medicine
- Cardiology and Cardiovascular Medicine
Cite this
Assessment of the clinical heterogeneity of Kawasaki disease using genetic variants of BLK and FCGR2A. / on behalf of the Korean Kawasaki Disease Genetics Consortium.
In: Korean Circulation Journal, Vol. 49, No. 1, 01.01.2019, p. 99-108.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Assessment of the clinical heterogeneity of Kawasaki disease using genetic variants of BLK and FCGR2A
AU - on behalf of the Korean Kawasaki Disease Genetics Consortium
AU - Kyung Sim, Bo
AU - Park, Hyein
AU - Kim, Jae Jung
AU - Weon Yun, Sin
AU - Jin Yu, Jeong
AU - Lim Yoon, Kyung
AU - Lee, Kyung Yil
AU - Kil, Hong Ryang
AU - Beom Kim, Gi
AU - Han, Myung Ki
AU - Seob Song, Min
AU - Doo Lee, Hyoung
AU - Soo Ha, Kee
AU - Sohn, Sejung
AU - Mi Hong, Young
AU - Jang, Giyoung
AU - Lee, Jong Keuk
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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: BLKand FCGR2Awere 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 BLKnor FCGR2Awere 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 BLKwas associated with all KD subgroups, whereas FCGR2Awas 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.
AB - 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: BLKand FCGR2Awere 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 BLKnor FCGR2Awere 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 BLKwas associated with all KD subgroups, whereas FCGR2Awas 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.
KW - Genome-wide association study
KW - Mucocutaneous lymph node syndrome
KW - Polymorphism
KW - Single nucleotide
UR - http://www.scopus.com/inward/record.url?scp=85060174068&partnerID=8YFLogxK
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U2 - 10.4070/kcj.2018.0224
DO - 10.4070/kcj.2018.0224
M3 - Article
VL - 49
SP - 99
EP - 108
JO - Korean Circulation Journal
JF - Korean Circulation Journal
SN - 1738-5520
IS - 1
ER -