0 42

Cited 0 times in

Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis

Authors
 Jae-Jung Kim  ;  Sin Weon Yun  ;  Jeong Jin Yu  ;  Kyung Lim Yoon  ;  Kyung-Yil Lee  ;  Hong-Ryang Kil  ;  Gi Beom Kim  ;  Myung-Ki Han  ;  Min Seob Song  ;  Hyoung Doo Lee  ;  Kee Soo Ha  ;  Sejung Sohn  ;  Ryota Ebata  ;  Hiromichi Hamada  ;  Hiroyuki Suzuki  ;  Kaoru Ito  ;  Yoshihiro Onouchi  ;  Young Mi Hong  ;  Gi Young Jang  ;  Jong-Keuk Lee 
Citation
 PHARMACOGENOMICS JOURNAL, Vol.20(1) : 80-86, 2020-02 
Journal Title
PHARMACOGENOMICS JOURNAL
ISSN
 1470-269X 
Issue Date
2020-02
MeSH
Child ; Drug Resistance / drug effects ; Drug Resistance / genetics ; Female ; Genetic Loci / genetics* ; Genetic Predisposition to Disease / epidemiology ; Genetic Predisposition to Disease / genetics* ; Genome-Wide Association Study / methods* ; Humans ; Immunoglobulins, Intravenous / administration & dosage* ; Male ; Mucocutaneous Lymph Node Syndrome / drug therapy ; Mucocutaneous Lymph Node Syndrome / epidemiology ; Mucocutaneous Lymph Node Syndrome / genetics* ; Tumor Suppressor Proteins / genetics*
Abstract
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, 10-20% 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 x 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 x 10(-6)). These results provide new insights into the mechanism of IVIG response in KD.
Full Text
https://www.nature.com/articles/s41397-019-0085-1
DOI
10.1038/s41397-019-0085-1
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Dong Soo(김동수)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/190224
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links