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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-JungYun, Sin WeonYu, Jeong JinYoon, Kyung LimLee, Kyung-YilKil, Hong-RyangKim, Gi BeomHan, Myung-KiSong, Min SeobLee, Hyoung DooHa, Kee SooSohn, SejungEbata, RyotaHamada, HiromichiSuzuki, HiroyukiIto, KaoruOnouchi, YoshihiroHong, Young MiJang, Gi YoungLee, Jong-KeukPark, In-SookHong, Soo-JongKim, Kwi-JooNam, Hyo-KyoungByeon, Jung-HyeHwang, Ja-YoungRhim, Jung-WooKim, Dong SooLee, Jae-MooKim, Jong-DukKorean Kawasaki Dis Genetics Conso
Ewha Authors
홍영미손세정
SCOPUS Author ID
홍영미scopus; 손세정scopus
Issue Date
2020
Journal Title
PHARMACOGENOMICS JOURNAL
ISSN
1470-269XJCR Link

1473-1150JCR Link
Citation
PHARMACOGENOMICS JOURNAL vol. 20, no. 1, pp. 80 - 86
Publisher
NATURE PUBLISHING GROUP
Indexed
SCIE; SCOPUS WOS 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.
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DOI
10.1038/s41397-019-0085-1
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의과대학 > 의학과 > Journal papers
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