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Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis
- Title
- Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis
- Authors
- Kim, Jae-Jung; Yun, Sin Weon; Yu, Jeong Jin; Yoon, Kyung Lim; Lee, Kyung-Yil; Kil, Hong-Ryang; Kim, Gi Beom; Han, Myung-Ki; Song, Min Seob; Lee, Hyoung Doo; Ha, Kee Soo; Sohn, Sejung; Ebata, Ryota; Hamada, Hiromichi; Suzuki, Hiroyuki; Ito, Kaoru; Onouchi, Yoshihiro; Hong, Young Mi; Jang, Gi Young; Lee, Jong-Keuk; Park, In-Sook; Hong, Soo-Jong; Kim, Kwi-Joo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Hwang, Ja-Young; Rhim, Jung-Woo; Kim, Dong Soo; Lee, Jae-Moo; Kim, Jong-Duk|Korean Kawasaki Dis Genetics Conso
- Ewha Authors
- 홍영미; 손세정
- SCOPUS Author ID
- 홍영미; 손세정
- Issue Date
- 2020
- Journal Title
- PHARMACOGENOMICS JOURNAL
- ISSN
- 1470-269X
1473-1150
- Citation
- PHARMACOGENOMICS JOURNAL vol. 20, no. 1, pp. 80 - 86
- Publisher
- NATURE PUBLISHING GROUP
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- Abstract
- Kawasaki disease (KD) is a systemic vasculitis affecting infants and children; it manifests as fever and signs of mucocutaneous inflammation. Intravenous immunoglobulin (IVIG) treatment effectively attenuates the fever and systemic inflammation. However, 10-20% patients are unresponsive to IVIG. To identify genetic variants influencing IVIG non-response in KD, a genome-wide association study (GWAS) and a replication study were performed using a total of 148 IVIG non-responders and 845 IVIG-responders in a Korean population. rs28662 in the sterile alpha motif domain-containing protein 9-like (SAMD9L) locus showed the most significant result in the joint analysis of GWAS and replication samples (odds ratio (OR) = 3.47, P = 1.39 x 10(-5)). The same SNP in the SAMD9L locus was tested in the Japanese population, and it revealed a more significant association in a meta-analysis with Japanese data (OR = 4.30, P = 5.30 x 10(-6)). These results provide new insights into the mechanism of IVIG response in KD.
- DOI
- 10.1038/s41397-019-0085-1
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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