%0 Journal Article
%T Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis
%J -
%D 2019
%R https://doi.org/10.1038/s41397-019-0085-1
%X 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¨C20% 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£¿¡Á£¿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£¿¡Á£¿10£¿6). These results provide new insights into the mechanism of IVIG response in KD
%U https://www.nature.com/articles/s41397-019-0085-1