Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis
DC Field | Value | Language |
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dc.contributor.author | Kim, Jae-Jung | - |
dc.contributor.author | Yun, Sin Weon | - |
dc.contributor.author | Yu, Jeong Jin | - |
dc.contributor.author | Yoon, Kyung Lim | - |
dc.contributor.author | Lee, Kyung-Yil | - |
dc.contributor.author | Kil, Hong-Ryang | - |
dc.contributor.author | Kim, Gi Beom | - |
dc.contributor.author | Han, Myung-Ki | - |
dc.contributor.author | Song, Min Seob | - |
dc.contributor.author | Lee, Hyoung Doo | - |
dc.contributor.author | Ha, Kee Soo | - |
dc.contributor.author | Sohn, Sejung | - |
dc.contributor.author | Ebata, Ryota | - |
dc.contributor.author | Hamada, Hiromichi | - |
dc.contributor.author | Suzuki, Hiroyuki | - |
dc.contributor.author | Ito, Kaoru | - |
dc.contributor.author | Onouchi, Yoshihiro | - |
dc.contributor.author | Hong, Young Mi | - |
dc.contributor.author | Jang, Gi Young | - |
dc.contributor.author | Lee, Jong-Keuk | - |
dc.contributor.author | Park, In-Sook | - |
dc.contributor.author | Hong, Soo-Jong | - |
dc.contributor.author | Kim, Kwi-Joo | - |
dc.contributor.author | Nam, Hyo-Kyoung | - |
dc.contributor.author | Byeon, Jung-Hye | - |
dc.contributor.author | Hwang, Ja-Young | - |
dc.contributor.author | Rhim, Jung-Woo | - |
dc.contributor.author | Kim, Dong Soo | - |
dc.contributor.author | Lee, Jae-Moo | - |
dc.contributor.author | Kim, Jong-Duk | - |
dc.date.accessioned | 2021-08-31T11:33:05Z | - |
dc.date.available | 2021-08-31T11:33:05Z | - |
dc.date.created | 2021-06-18 | - |
dc.date.issued | 2020-02 | - |
dc.identifier.issn | 1470-269X | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/57855 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.subject | LONG-TERM MANAGEMENT | - |
dc.subject | HEALTH-PROFESSIONALS | - |
dc.subject | PREDICTION | - |
dc.subject | CHILDREN | - |
dc.subject | MUTATIONS | - |
dc.subject | STATEMENT | - |
dc.subject | DIAGNOSIS | - |
dc.subject | YOUNG | - |
dc.title | Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Ha, Kee Soo | - |
dc.contributor.affiliatedAuthor | Jang, Gi Young | - |
dc.identifier.doi | 10.1038/s41397-019-0085-1 | - |
dc.identifier.wosid | 000510861200007 | - |
dc.identifier.bibliographicCitation | PHARMACOGENOMICS JOURNAL, v.20, no.1, pp.80 - 86 | - |
dc.relation.isPartOf | PHARMACOGENOMICS JOURNAL | - |
dc.citation.title | PHARMACOGENOMICS JOURNAL | - |
dc.citation.volume | 20 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 80 | - |
dc.citation.endPage | 86 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalResearchArea | Pharmacology & Pharmacy | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Pharmacology & Pharmacy | - |
dc.subject.keywordPlus | LONG-TERM MANAGEMENT | - |
dc.subject.keywordPlus | HEALTH-PROFESSIONALS | - |
dc.subject.keywordPlus | PREDICTION | - |
dc.subject.keywordPlus | CHILDREN | - |
dc.subject.keywordPlus | MUTATIONS | - |
dc.subject.keywordPlus | STATEMENT | - |
dc.subject.keywordPlus | DIAGNOSIS | - |
dc.subject.keywordPlus | YOUNG | - |
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