| Literature DB >> 31965063 |
Hea-Ji Kim1, Jae-Jung Kim1, Sin Weon Yun2, Jeong Jin Yu3, Kyung Lim Yoon4, Kyung-Yil Lee5, Hong-Ryang Kil6, Gi Beom Kim7, Myung-Ki Han8, Min Seob Song9, Hyoung Doo Lee10, Kee Soo Ha11, Young Mi Hong12, Gi Young Jang11, Jong-Keuk Lee13.
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, ~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 × 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 × 10-4). These results implicate IL16 as involved in the mechanism of IVIG resistance in KD.Entities:
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Year: 2020 PMID： 31965063 DOI： 10.1038/s10038-020-0721-2
Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172