PURPOSE: Kawasakidisease (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 EBF2gene. 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 EBF2gene 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 EBF2gene polymorphisms were significantly associated with KD on logistic regression analysis.
CONCLUSION: EBF2genevariants can contribute to KD in the Korean population.