• Yoonsun Bae, Dongjik Shin, Jiho Nam, Hye Rim Lee, Jun Sung Kim, Kyu Yeun Kim, Dong Soo Kim, and Yeun Jun Chung.
• Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.
• Yonsei Med. J. 2018 Jun 1; 59 (4): 519523519-523.

PurposeKawasaki 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 MethodsAn 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.ResultsPolymorphism 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.ConclusionEBF2 gene variants can contribute to KD in the Korean population.© Copyright: Yonsei University College of Medicine 2018.

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