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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."xsd:string
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http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Kim J.S."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Kim K.Y."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Lee H.R."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Nam J."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Kim D.S."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Shin D."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Bae Y."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/author"Chung Y.J."xsd:string
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http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/name"Yonsei Med J"xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/pages"519-523"xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/title"Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population."xsd:string
http://purl.uniprot.org/citations/29749135http://purl.uniprot.org/core/volume"59"xsd:string
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