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

Autor: Kim JJ; Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea., Yun SW; Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea., Yu JJ; Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea., Yoon KL; Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea., Lee KY; Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea., Kil HR; Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea., Kim GB; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea., Han MK; Department of Pediatrics, University of Ulsan, Gangneung Asan Hospital, Gangneung, Korea., Song MS; Department of Pediatrics, Inje University Paik Hospital, Busan, Korea., Lee HD; Department of Pediatrics, Pusan National University Hospital, Busan, Korea., Ha KS; Department of Pediatrics, Korea University Hospital, Seoul, Korea., Sohn S; Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea., Ebata R; Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan., Hamada H; Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan., Suzuki H; Department of Pediatrics, Wakayama Medical University, Wakayama, Japan., Ito K; Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Onouchi Y; Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan., Hong YM; Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea., Jang GY; Department of Pediatrics, Korea University Hospital, Seoul, Korea., Lee JK; Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea. cookie_jklee@hotmail.com.
Jazyk: angličtina
Zdroj: The pharmacogenomics journal [Pharmacogenomics J] 2020 Feb; Vol. 20 (1), pp. 80-86. Date of Electronic Publication: 2019 Apr 11.
DOI: 10.1038/s41397-019-0085-1
Abstrakt: 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 × 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 × 10 -6 ). These results provide new insights into the mechanism of IVIG response in KD.
Databáze: MEDLINE
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