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
- Issue Date
- 2월-2020
- Publisher
- NATURE PUBLISHING GROUP
- Citation
- PHARMACOGENOMICS JOURNAL, v.20, no.1, pp.80 - 86
- Indexed
- SCIE
SCOPUS
- Journal Title
- PHARMACOGENOMICS JOURNAL
- Volume
- 20
- Number
- 1
- Start Page
- 80
- End Page
- 86
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/57855
- DOI
- 10.1038/s41397-019-0085-1
- ISSN
- 1470-269X
- 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.
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