Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population.
10.3349/ymj.2018.59.4.519
- Author:
Yoonsun BAE
1
;
Dongjik SHIN
;
Jiho NAM
;
Hye Rim LEE
;
Jun Sung KIM
;
Kyu Yeun KIM
;
Dong Soo KIM
;
Yeun Jun CHUNG
Author Information
1. Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Korea. yejun@catholic.ac.kr
- Publication Type:Original Article
- Keywords:
Kawasaki disease (KD);
Korean;
polymorphism;
EBF2 gene
- MeSH:
Child;
Exons;
Gene Frequency;
Humans;
Inflammation;
Logistic Models;
Mucocutaneous Lymph Node Syndrome*;
Polymorphism, Single Nucleotide;
Real-Time Polymerase Chain Reaction
- From:Yonsei Medical Journal
2018;59(4):519-523
- CountryRepublic of Korea
- Language:English
-
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.
