Full metadata record
DC Field | Value | Language |
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dc.contributor.author | 홍영미 | * |
dc.contributor.author | 손세정 | * |
dc.date.accessioned | 2020-03-16T16:30:31Z | - |
dc.date.available | 2020-03-16T16:30:31Z | - |
dc.date.issued | 2020 | * |
dc.identifier.issn | 1434-5161 | * |
dc.identifier.issn | 1435-232X | * |
dc.identifier.other | OAK-26493 | * |
dc.identifier.uri | https://dspace.ewha.ac.kr/handle/2015.oak/253542 | - |
dc.description.abstract | Kawasaki disease (KD) is an acute, self-limited vasculitis, mainly affecting children younger than 5 years old, with accompanying fever and signs of mucocutaneous inflammation. Intravenous immunoglobulin (IVIG) is the standard treatment for KD; however, similar to 15% of patients are resistant to IVIG treatment. To identify protein coding genetic variants influencing IVIG resistance, we re-analyzed our previous genome-wide association study (GWAS) data from 296 patients with KD, including 101 IVIG non-responders and 195 IVIG responders. Five nonsynonymous SNPs (nsSNPs) in five immune-related genes, including a previously reported SAMD9L nsSNP (rs10488532; p.Val266Ile), were associated with IVIG non-response (odds ratio [OR] = 1.89-3.46, P = 0.0109-0.0035). In a replication study of the four newly-identified nsSNPs, only one in the interleukin 16 (IL16) gene (rs11556218, p.Asn1147Lys) showed a trend of association with IVIG non-response (OR = 1.54, P = 0.0078). The same IL16 nsSNP was more significantly associated with IVIG non-response in combined analysis of all data (OR = 1.64, P = 1.25 x 10(-4)). Furthermore, risk allele combination of the IL16 CT and SAMD9L TT nsSNP genotypes exhibited a very strong effect size (OR = 9.19, P = 3.63 x 10(-4)). These results implicate IL16 as involved in the mechanism of IVIG resistance in KD. | * |
dc.language | English | * |
dc.publisher | NATURE PUBLISHING GROUP | * |
dc.title | Association of the IL16 Asn1147Lys polymorphism with intravenous immunoglobulin resistance in Kawasaki disease | * |
dc.type | Article | * |
dc.relation.issue | 4 | * |
dc.relation.volume | 65 | * |
dc.relation.index | SCIE | * |
dc.relation.index | SCOPUS | * |
dc.relation.startpage | 421 | * |
dc.relation.lastpage | 426 | * |
dc.relation.journaltitle | JOURNAL OF HUMAN GENETICS | * |
dc.identifier.doi | 10.1038/s10038-020-0721-2 | * |
dc.identifier.wosid | WOS:000508513800001 | * |
dc.author.google | Kim, Hea-Ji | * |
dc.author.google | Kim, Jae-Jung | * |
dc.author.google | Yun, Sin Weon | * |
dc.author.google | Yu, Jeong Jin | * |
dc.author.google | Yoon, Kyung Lim | * |
dc.author.google | Lee, Kyung-Yil | * |
dc.author.google | Kil, Hong-Ryang | * |
dc.author.google | Kim, Gi Beom | * |
dc.author.google | Han, Myung-Ki | * |
dc.author.google | Song, Min Seob | * |
dc.author.google | Lee, Hyoung Doo | * |
dc.author.google | Ha, Kee Soo | * |
dc.author.google | Hong, Young Mi | * |
dc.author.google | Jang, Gi Young | * |
dc.author.google | Lee, Jong-Keuk | * |
dc.author.google | Park, In-Sook | * |
dc.author.google | Hong, Soo-Jong | * |
dc.author.google | Kim, Kwi-Joo | * |
dc.author.google | Sohn, Sejung | * |
dc.author.google | Nam, Hyo-Kyoung | * |
dc.author.google | Byeon, Jung-Hye | * |
dc.author.google | Jun, Hyun Ok | * |
dc.author.google | Hwang, Ja-Young | * |
dc.author.google | Rhim, Jung-Woo | * |
dc.author.google | Kim, Dong Soo | * |
dc.author.google | Lee, Jae-Moo | * |
dc.author.google | Kim, Jong-Duk|Korean Kawasaki Dis Genetics | * |
dc.contributor.scopusid | 홍영미(35210025100;55841904000;56063366100) | * |
dc.contributor.scopusid | 손세정(56577409300) | * |
dc.date.modifydate | 20240415130647 | * |