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

2019-03-21 15:34
Bae, Y., Shin, D., Nam, J., Lee, H. R., Kim, J. S., Kim, K. Y., ... & Chung, Y. J. (2018). Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population. Yonsei medical journal59(4), 519-523.

DOI: 10.3349/ymj.2018.59.4.519


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.