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Association of the IL16 Asn1147Lys polymorphism with intravenous immunoglobulin resistance in Kawasaki disease

Title
Association of the IL16 Asn1147Lys polymorphism with intravenous immunoglobulin resistance in Kawasaki disease
Authors
Kim, Hea-JiKim, Jae-JungYun, Sin WeonYu, Jeong JinYoon, Kyung LimLee, Kyung-YilKil, Hong-RyangKim, Gi BeomHan, Myung-KiSong, Min SeobLee, Hyoung DooHa, Kee SooHong, Young MiJang, Gi YoungLee, Jong-KeukPark, In-SookHong, Soo-JongKim, Kwi-JooSohn, SejungNam, Hyo-KyoungByeon, Jung-HyeJun, Hyun OkHwang, Ja-YoungRhim, Jung-WooKim, Dong SooLee, Jae-MooKim, Jong-DukKorean Kawasaki Dis Genetics
Ewha Authors
홍영미손세정
SCOPUS Author ID
홍영미scopus; 손세정scopus
Issue Date
2020
Journal Title
JOURNAL OF HUMAN GENETICS
ISSN
1434-5161JCR Link

1435-232XJCR Link
Citation
JOURNAL OF HUMAN GENETICS vol. 65, no. 4, pp. 421 - 426
Publisher
NATURE PUBLISHING GROUP
Indexed
SCI; SCIE; SCOPUS WOS
Document Type
Article
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.
DOI
10.1038/s10038-020-0721-2
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의과대학 > 의학과 > Journal papers
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