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Korean Circ J. 2015 Nov;45(6):443-448. English. Review. https://doi.org/10.4070/kcj.2015.45.6.443
Lee JK , Hong YM , Jang GY , Yun SW , Yu JJ , Yoon KL , Lee KY , Kil HR , .
Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea. cookie_jklee@hotmail.com
Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea.
Department of Pediatrics, Korea University Hospital, Seoul, Korea.
Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea.
Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea.
Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea.
Abstract

In order to perform large-scale genetic studies of Kawasaki disease (KD) in Korea, the Korean Kawasaki Disease Genetics Consortium (KKDGC) was formed in 2008 with 10 hospitals. Since the establishment of KKDGC, there has been a collection of clinical data from a total of 1198 patients, and approximately 5 mL of blood samples per patient (for genomic deoxyribonucleic acid and plasma isolation), using a standard clinical data collection form and a nation-wide networking system for blood sample pick-up. In the clinical risk factor analysis using the collected clinical data of 478 KD patients, it was found that incomplete KD type, intravenous immunoglobulin (IVIG) non-responsiveness, and long febrile days are major risk factors for coronary artery lesions development, whereas low serum albumin concentration is an independent risk factor for IVIG non-responsiveness. In addition, we identified a KD susceptibility locus at 1p31, a coronary artery aneurysm locus (KCNN2 gene), and the causal variant in the C-reactive protein (CRP) promoter region, as determining the increased CRP levels in KD patients, by means of genome-wide association studies. Currently, this consortium is continually collecting more clinical data and genomic samples to identify the clinical and genetic risk factors via a single nucleotide polymorphism chip and exome sequencing, as well as collaborating with several international KD genetics teams. The consortium-based approach for genetic studies of KD in Korea will be a very effective way to understand the unknown etiology and causal mechanism of KD, which may be affected by multiple genes and environmental factors.

Copyright © 2019. Korean Association of Medical Journal Editors.