Yonsei Med J.  2018 Jun;59(4):519-523. 10.3349/ymj.2018.59.4.519.

Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population

• Bae Y
• Shin D
• Nam J
• Lee HR
• Kim JS
• Kim KY
• Kim DS
• Chung YJ

• KMID: 2410907
• DOI: http://doi.org/10.3349/ymj.2018.59.4.519

Abstract

PURPOSE
Kawasaki disease (KD) is a mucocutaneous lymph node syndrome. It is mainly seen in young children under the age of five. KD is a multifactorial disorder that includes genetic variants. The present study investigated the association between KD and single nucleotide polymorphisms (SNPs) in the candidate gene early B cell factor 2 (EBF2), which is associated with inflammation markers.
MATERIALS AND METHODS
An SNP analysis was performed by whole exon sequencing of the EBF2 gene. Our study comprised a total of 495 subjects (295 KD patients and 200 unrelated normal controls) from a Korean population. Tag SNPs were discovered using the Haploview program. Genotyping of the EBF2 gene was performed with the TaqMan® assay with real-time PCR methods.
RESULTS
Polymorphism of rs10866845 showed a significant difference in allele frequency between KD patients and controls (p=0.040). The EBF2 gene polymorphisms were significantly associated with KD on logistic regression analysis.
CONCLUSION
EBF2 gene variants can contribute to KD in the Korean population.

Keyword

Kawasaki disease (KD); Korean; polymorphism; EBF2 gene

MeSH Terms

Child
Exons
Gene Frequency
Humans
Inflammation
Logistic Models
Mucocutaneous Lymph Node Syndrome*
Polymorphism, Single Nucleotide
Real-Time Polymerase Chain Reaction

Figure

• 

  Fig. 1 Overview of EBF2 gene polymorphisms. EBF2, early B cell factor 2.

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