title: Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium.
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.
authors.affiliation: Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jong-Keuk
authors.initials: JK
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea.
authors.forename: Young Mi
authors.initials: YM
authors.lastname: Hong
authors.affiliation: Department of Pediatrics, Korea University Hospital, Seoul, Korea.
authors.forename: Gi Young
authors.initials: GY
authors.lastname: Jang
authors.affiliation: Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea.
authors.forename: Sin Weon
authors.initials: SW
authors.lastname: Yun
authors.affiliation: Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
authors.forename: Jeong Jin
authors.initials: JJ
authors.lastname: Yu
authors.affiliation: Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
authors.forename: Kyung Lim
authors.initials: KL
authors.lastname: Yoon
authors.affiliation: Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea.
authors.forename: Kyung-Yil
authors.initials: KY
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea.
authors.forename: Hong-Rang
authors.initials: HR
authors.lastname: Kil
keywords: Genome-wide association study; Mucocutaneous lymph node syndrome; Polymorphism, single nucleotide