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

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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.

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Most cited references 19

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Kawasaki syndrome.

Jane C. Burns, Mary Glodé (2004)

Kawasaki syndrome is an acute, self-limited vasculitis that occurs in children of all ages and presents a challenge for the clinician: the disorder can be difficult to recognise; there is no diagnostic laboratory test; there is an extremely effective therapy; and there is a 25% chance of serious cardiovascular damage if the treatment is not given early in the course of the disease. This review includes discussion of the history of the syndrome, the diagnostic challenges, epidemiology, aetiology, pathology, immunopathogenesis, therapy, genetic influences, and the long-term cardiovascular sequelae.

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EBF2 determines and maintains brown adipocyte identity.

Sona Rajakumari, Jun Wu, Jeff Ishibashi … (2013)

The master transcription factor Pparγ regulates the general differentiation program of both brown and white adipocytes. However, it has been unclear whether Pparγ also controls fat lineage-specific characteristics. Here, we show that early B cell factor-2 (Ebf2) regulates Pparγ binding activity to determine brown versus white adipocyte identity. The Ebf DNA-binding motif was highly enriched within brown adipose-specific Pparγ binding sites that we identified by genome-wide ChIP-Seq. Of the Ebf isoforms, Ebf2 was selectively expressed in brown relative to white adipocytes and was bound at brown adipose-specific Pparγ target genes. When expressed in myoblasts or white preadipose cells, Ebf2 recruited Pparγ to its brown-selective binding sites and reprogrammed cells to a brown fat fate. Brown adipose cells and tissue from Ebf2-deficient mice displayed a loss of brown-specific characteristics and thermogenic capacity. Together, these results identify Ebf2 as a key transcriptional regulator of brown fat cell fate and function. Copyright © 2013 Elsevier Inc. All rights reserved.

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Failure of B-cell differentiation in mice lacking the transcription factor EBF.

H. LIN, R Grosschedl (1995)

Early B-cell factor (EBF) is a cell type-specific transcription factor that is expressed at all antigen-independent stages of B-lymphocyte differentiation and participates in the regulation of the mb-1 gene. Here we show, by targeted gene disruption in mice, that EBF is necessary for the generation of immunoglobulin-expressing B cells. EBF-deficient mice lack B cells that have rearranged their immunoglobulin D and JH gene segments, but contain B220+CD43+ progenitor cells that express germline mu and IL-7 receptor transcripts. Various non-lymphoid tissues that express EBF are apparently normal in homozygous mutant mice, including olfactory neurons in which EBF was identified as Olf-1 (refs 5, 6). Together, these data suggest that EBF plays a specific and important role in the transcriptional control of B-cell differentiation at a stage before Ig (immunoglobulin) gene rearrangement but after commitment of cells to the B-lymphoid lineage.

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Author and article information

Journal

Journal ID (nlm-ta): Yonsei Med J

Journal ID (iso-abbrev): Yonsei Med. J

Journal ID (publisher-id): YMJ

Title: Yonsei Medical Journal

Publisher: Yonsei University College of Medicine

ISSN (Print): 0513-5796

ISSN (Electronic): 1976-2437

Publication date (Print): 01 June 2018

Publication date (Electronic): 03 May 2018

Volume: 59

Issue: 4

Pages: 519-523

Affiliations

[1 ]Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, Korea.

[2 ]Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul, Korea.

[3 ]Medizen Humancare Inc., Seoul, Korea.

[4 ]Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, Seoul, Korea.

Author notes

Co-corresponding author: Dr. Yeun-Jun Chung, Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Korea. Tel: 82-2-2258-7343, Fax: 82-2-537-0572, yejun@ 123456catholic.ac.kr

Co-corresponding author: Dr. Dong Soo Kim, Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital, 50-1 Yonsei-ro, Seodaemoon-gu, Seoul 03722, Korea. Tel: 82-2-2228-2057, Fax: 82-2-393-9118, dskim6634@ 123456yuhs.ac

Author information

Yoonsun Bae https://orcid.org/0000-0001-9521-8894

Dong Soo Kim https://orcid.org/0000-0002-3270-506X

Yeun-Jun Chung https://orcid.org/0000-0002-6943-5948

Article

DOI: 10.3349/ymj.2018.59.4.519

PMC ID: 5949294

PubMed ID: 29749135

SO-VID: 72354012-9da4-4411-b24a-e0742878b66f

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 20 November 2017

Date revision received : 22 February 2018

Date accepted : 28 February 2018

Funding

Funded by: National Research Foundation of Korea, CrossRef http://dx.doi.org/10.13039/501100003725;

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

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Abstract

Purpose

Materials and Methods

Results

Conclusion

Related collections

Alternative approaches to Alzheimer's Disease

Most cited references 19

Kawasaki syndrome.

EBF2 determines and maintains brown adipocyte identity.

Failure of B-cell differentiation in mice lacking the transcription factor EBF.

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Author notes

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