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KMID : 0311120180590040519
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Yonsei Medical Journal
2018 Volume.59 No. 4 p.519 ~ p.523
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Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population
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Bae Yoon-Sun
Shin Dong-Jik
Nam Ji-Ho
Lee Hye-Rim
Kim Jun-Sung
Kim Kyu-Yeun
Kim Dong-Soo
Chung Yeun-Jun
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Abstract
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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.
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KEYWORD
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Kawasaki disease (KD), Korean, polymorphism, EBF2 gene
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