Genomics & Informatics

  • 제19권4호
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  • Pages.38.1-38.7
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  • 2021
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  • 1598-866X(pISSN)
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  • 2234-0742(eISSN)
한국유전체학회 (Korea Genome Organization)
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Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

  • Kim, Jae-Jung (Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Hong, Young Mi (Department of Pediatrics, Ewha Womans University Hospital) ;
  • Yun, Sin Weon (Department of Pediatrics, Chung-Ang University Hospital) ;
  • Lee, Kyung-Yil (Department of Pediatrics, Daejeon St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Yoon, Kyung Lim (Department of Pediatrics, Kyung Hee University Hospital at Gangdong) ;
  • Han, Myung-Ki (Department of Pediatrics, Gangneung Asan Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gi Beom (Department of Pediatrics, Seoul National University Children's Hospital) ;
  • Kil, Hong-Ryang (Department of Pediatrics, Chungnam National University Hospital) ;
  • Song, Min Seob (Department of Pediatrics, Inje University Paik Hospital) ;
  • Lee, Hyoung Doo (Department of Pediatrics, Pusan National University Hospital) ;
  • Ha, Kee Soo (Department of Pediatrics, Korea University Guro Hospital) ;
  • Jun, Hyun Ok (Department of Pediatrics and Adolescent Medicine, Myongji Hospital) ;
  • Choi, Byung-Ok (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Oh, Yeon-Mok (Department of Pulmonary and Critical Care Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Yu, Jeong Jin (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Jang, Gi Young (Department of Pediatrics, Korea University Guro Hospital) ;
  • Lee, Jong-Keuk (Asan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine) ;
  • The Korean Kawasaki Disease Genetics Consortium,
  • 투고 : 2021.08.19
  • 심사 : 2021.10.05
  • 발행 : 2021.12.31
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초록

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18 to 4.41; p = 0.0027-0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89 to 37.3; p = 0.0058- 0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

키워드

과제정보

We thank all of our patients and their families for participating in this study. This work was supported by a grant from the Ministry of Health & Welfare of the Republic of Korea (HI15C1575) and a grant from the Korea Center for Disease Control and Prevention (2016-ER7401-00).

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