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Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population.


ABSTRACT: 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.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.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.EBF2 gene variants can contribute to KD in the Korean population.

SUBMITTER: Bae Y 

PROVIDER: S-EPMC5949294 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population.

Bae Yoonsun Y   Shin Dongjik D   Nam Jiho J   Lee Hye Rim HR   Kim Jun Sung JS   Kim Kyu Yeun KY   Kim Dong Soo DS   Chung Yeun Jun YJ  

Yonsei medical journal 20180601 4


<h4>Purpose</h4>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.<h4>Materials and methods</h4>An SNP analysis was performed by whole exon sequencing of the EBF2 gen  ...[more]

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