Association of the IL16 Asn1147Lys polymorphism with intravenous immunoglobulin resistance in Kawasaki disease
- Authors
- Kim, Hea-Ji; 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; Hong, Young Mi; Jang, Gi Young; Lee, Jong-Keuk; Yu, Jeong Jin; Yu, Jeong Jin; Park, In-Sook; Hong, Soo-Jong; Kim, Kwi-Joo; Lee, Jong-Keuk; Kim, Jae-Jung; Hong, Young Mi; Sohn, Sejung; Jang, Gi Young; Ha, Kee Soo; Nam, Hyo-Kyoung; Byeon, Jung-Hye; Yun, Sin Weon; Han, Myung-Ki; Jun, Hyun Ok; Lee, Kyung-Yil; Hwang, Ja-Young; Rhim, Jung-Woo; Song, Min Seob; Lee, Hyoung Doo; Kim, Dong Soo; Yoon, Kyung Lim; Kil, Hong-Ryang; Kim, Gi Beom; Lee, Jae-Moo; Kim, Jong-Duk
- Issue Date
- 4월-2020
- Publisher
- NATURE PUBLISHING GROUP
- Citation
- JOURNAL OF HUMAN GENETICS, v.65, no.4, pp.421 - 426
- Indexed
- SCIE
SCOPUS
- Journal Title
- JOURNAL OF HUMAN GENETICS
- Volume
- 65
- Number
- 4
- Start Page
- 421
- End Page
- 426
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/139084
- DOI
- 10.1038/s10038-020-0721-2
- ISSN
- 1434-5161
- 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.
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