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Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium

Title
Consortium-Based Genetic Studies of Kawasaki Disease in Korea: Korean Kawasaki Disease Genetics Consortium
Authors
Lee, Jong-KeukHong, Young MiJang, Gi YoungYun, Sin WeonYu, Jeong JinYoon, Kyung LimLee, Kyung-YilKil, Hong-RangKorean Kawasaki Dis Genetics
Ewha Authors
홍영미
SCOPUS Author ID
홍영미scopus
Issue Date
2015
Journal Title
KOREAN CIRCULATION JOURNAL
ISSN
1738-5520JCR Link1738-5555JCR Link
Citation
vol. 45, no. 6, pp. 443 - 448
Keywords
Mucocutaneous lymph node syndromeGenome-wide association studyPolymorphismsingle nucleotide
Publisher
KOREAN SOC CARDIOLOGY
Indexed
SCIE; SCOPUS; KCI WOS
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.
DOI
10.4070/kcj.2015.45.6.443
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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