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

Yonsei Med J. 2018 Jun;59(4):519-523. doi: 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.

Keywords: EBF2 gene; Kawasaki disease (KD); Korean; polymorphism.

MeSH terms

  • Asian People / genetics*
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease / ethnology*
  • Genotype
  • Humans
  • Infant
  • Mucocutaneous Lymph Node Syndrome / ethnology*
  • Mucocutaneous Lymph Node Syndrome / genetics*
  • Polymorphism, Single Nucleotide*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • EBF2 protein, human