PMID- 30971808 OWN - NLM STAT- MEDLINE DCOM- 20210104 LR - 20220420 IS - 1473-1150 (Electronic) IS - 1470-269X (Linking) VI - 20 IP - 1 DP - 2020 Feb TI - Identification of SAMD9L as a susceptibility locus for intravenous immunoglobulin resistance in Kawasaki disease by genome-wide association analysis. PG - 80-86 LID - 10.1038/s41397-019-0085-1 [doi] AB - 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. FAU - Kim, Jae-Jung AU - Kim JJ AD - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea. FAU - Yun, Sin Weon AU - Yun SW AD - Department of Pediatrics, Chung-Ang University Hospital, Seoul, Korea. FAU - Yu, Jeong Jin AU - Yu JJ AD - Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea. FAU - Yoon, Kyung Lim AU - Yoon KL AD - Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea. FAU - Lee, Kyung-Yil AU - Lee KY AD - Department of Pediatrics, The Catholic University of Korea, Daejeon St. Mary's Hospital, Daejeon, Korea. FAU - Kil, Hong-Ryang AU - Kil HR AD - Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea. FAU - Kim, Gi Beom AU - Kim GB AD - Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. FAU - Han, Myung-Ki AU - Han MK AD - Department of Pediatrics, University of Ulsan, Gangneung Asan Hospital, Gangneung, Korea. FAU - Song, Min Seob AU - Song MS AD - Department of Pediatrics, Inje University Paik Hospital, Busan, Korea. FAU - Lee, Hyoung Doo AU - Lee HD AD - Department of Pediatrics, Pusan National University Hospital, Busan, Korea. FAU - Ha, Kee Soo AU - Ha KS AD - Department of Pediatrics, Korea University Hospital, Seoul, Korea. FAU - Sohn, Sejung AU - Sohn S AD - Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea. FAU - Ebata, Ryota AU - Ebata R AD - Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan. FAU - Hamada, Hiromichi AU - Hamada H AD - Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Chiba, Japan. FAU - Suzuki, Hiroyuki AU - Suzuki H AD - Department of Pediatrics, Wakayama Medical University, Wakayama, Japan. FAU - Ito, Kaoru AU - Ito K AD - Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan. FAU - Onouchi, Yoshihiro AU - Onouchi Y AD - Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan. AD - Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan. FAU - Hong, Young Mi AU - Hong YM AD - Department of Pediatrics, Ewha Womans University Hospital, Seoul, Korea. FAU - Jang, Gi Young AU - Jang GY AD - Department of Pediatrics, Korea University Hospital, Seoul, Korea. FAU - Lee, Jong-Keuk AU - Lee JK AUID- ORCID: 0000-0003-1125-4017 AD - Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea. cookie_jklee@hotmail.com. CN - and the Korean Kawasaki Disease Genetics Consortium LA - eng PT - Journal Article PT - Multicenter Study PT - Research Support, Non-U.S. Gov't DEP - 20190411 PL - United States TA - Pharmacogenomics J JT - The pharmacogenomics journal JID - 101083949 RN - 0 (Immunoglobulins, Intravenous) RN - 0 (SAMD9L protein, human) RN - 0 (Tumor Suppressor Proteins) SB - IM MH - Child MH - Drug Resistance/drug effects/genetics MH - Female MH - Genetic Loci/*genetics MH - Genetic Predisposition to Disease/epidemiology/*genetics MH - Genome-Wide Association Study/*methods MH - Humans MH - Immunoglobulins, Intravenous/*administration & dosage MH - Male MH - Mucocutaneous Lymph Node Syndrome/drug therapy/epidemiology/*genetics MH - Tumor Suppressor Proteins/*genetics FIR - Yu, Jeong Jin IR - Yu JJ FIR - Park, In-Sook IR - Park IS FIR - Hong, Soo-Jong IR - Hong SJ FIR - Kim, Kwi-Joo IR - Kim KJ FIR - Lee, Jong-Keuk IR - Lee JK FIR - Kim, Jae-Jung IR - Kim JJ FIR - Hong, Young Mi IR - Hong YM FIR - Sohn, Sejung IR - Sohn S FIR - Jang, Gi Young IR - Jang GY FIR - Ha, Kee Soo IR - Ha KS FIR - Nam, Hyo-Kyoung IR - Nam HK FIR - Byeon, Jung-Hye IR - Byeon JH FIR - Yun, Sin Weon IR - Yun SW FIR - Han, Myung-Ki IR - Han MK FIR - Lee, Kyung-Yil IR - Lee KY FIR - Hwang, Ja-Young IR - Hwang JY FIR - Rhim, Jung-Woo IR - Rhim JW FIR - Song, Min Seob IR - Song MS FIR - Lee, Hyoung Doo IR - Lee HD FIR - Kim, Dong Soo IR - Kim DS FIR - Yoon, Kyung Lim IR - Yoon KL FIR - Kil, Hong-Ryang IR - Kil HR FIR - Kim, Gi Beom IR - Kim GB FIR - Lee, Jae-Moo IR - Lee JM FIR - Kim, Jong-Duk IR - Kim JD EDAT- 2019/04/12 06:00 MHDA- 2021/01/05 06:00 CRDT- 2019/04/12 06:00 PHST- 2017/08/28 00:00 [received] PHST- 2019/03/27 00:00 [accepted] PHST- 2018/12/21 00:00 [revised] PHST- 2019/04/12 06:00 [pubmed] PHST- 2021/01/05 06:00 [medline] PHST- 2019/04/12 06:00 [entrez] AID - 10.1038/s41397-019-0085-1 [pii] AID - 10.1038/s41397-019-0085-1 [doi] PST - ppublish SO - Pharmacogenomics J. 2020 Feb;20(1):80-86. doi: 10.1038/s41397-019-0085-1. Epub 2019 Apr 11.