Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kim, J.-J. | - |
dc.contributor.author | Hong, Y.M. | - |
dc.contributor.author | Yun, S.W. | - |
dc.contributor.author | Lee, K.-Y. | - |
dc.contributor.author | Yoon, K.L. | - |
dc.contributor.author | Han, M.-K. | - |
dc.contributor.author | Kim, G.B. | - |
dc.contributor.author | Kil, H.-R. | - |
dc.contributor.author | Song, M.S. | - |
dc.contributor.author | Lee, H.D. | - |
dc.contributor.author | Ha, K.S. | - |
dc.contributor.author | Jun, H.O. | - |
dc.contributor.author | Choi, B.-O. | - |
dc.contributor.author | Oh, Y.-M. | - |
dc.contributor.author | Yu, J.J. | - |
dc.contributor.author | Jang, G.Y. | - |
dc.contributor.author | Lee, J.-K. | - |
dc.date.accessioned | 2022-04-29T08:40:09Z | - |
dc.date.available | 2022-04-29T08:40:09Z | - |
dc.date.issued | 2021-12 | - |
dc.identifier.issn | 1598-866X | - |
dc.identifier.issn | 2234-0742 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/57006 | - |
dc.description.abstract | 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. © 2021 Korea Genome Organization. | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Korea Genome Organization | - |
dc.title | Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing | - |
dc.type | Article | - |
dc.identifier.doi | 10.5808/gi.21046 | - |
dc.identifier.bibliographicCitation | Genomics and Informatics, v.19, no.4 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.scopusid | 2-s2.0-85126798909 | - |
dc.citation.number | 4 | - |
dc.citation.title | Genomics and Informatics | - |
dc.citation.volume | 19 | - |
dc.type.docType | Article | - |
dc.publisher.location | 대한민국 | - |
dc.subject.keywordAuthor | Association study | - |
dc.subject.keywordAuthor | Coronary artery aneurysms | - |
dc.subject.keywordAuthor | Kawasaki disease | - |
dc.subject.keywordAuthor | Whole exome sequencing | - |
dc.description.journalRegisteredClass | scopus | - |
Items in ScholarWorks are protected by copyright, with all rights reserved, unless otherwise indicated.
84, Heukseok-ro, Dongjak-gu, Seoul, Republic of Korea (06974)02-820-6194
COPYRIGHT 2019 Chung-Ang University All Rights Reserved.
Certain data included herein are derived from the © Web of Science of Clarivate Analytics. All rights reserved.
You may not copy or re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics.