Assessment of the clinical heterogeneity of Kawasaki disease using genetic variants of BLK and FCGR2A

on behalf of the Korean Kawasaki Disease Genetics Consortium

Research output: Contribution to journalArticle

1 Citation (Scopus)

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 languageEnglish
Pages (from-to)99-108
Number of pages10
JournalKorean Circulation Journal
Volume49
Issue number1
DOIs
Publication statusPublished - 2019 Jan 1

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Mucocutaneous Lymph Node Syndrome
Odds Ratio
IgG Receptors
Genetic Heterogeneity

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 journalArticle

on behalf of the Korean Kawasaki Disease Genetics Consortium. / Assessment of the clinical heterogeneity of Kawasaki disease using genetic variants of BLK and FCGR2A. In: Korean Circulation Journal. 2019 ; Vol. 49, No. 1. pp. 99-108.
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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.",
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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.

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KW - Mucocutaneous lymph node syndrome

KW - Polymorphism

KW - Single nucleotide

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