Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Jae Jung Kim; Young Mi Hong; Sin Weon Yun; Kyung Yil Lee; Kyung Lim Yoon; Myung Ki Han; Gi Beom Kim; Hong Ryang Kil; Min Seob Song; Hyoung Doo Lee; Kee Soo Ha; Hyun Ok Jun; Byung Ok Choi; Yeon Mok Oh; Jeong Jin Yu; Gi Young Jang; Jong Keuk Lee

doi:10.5808/gi.21046

Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Jae Jung Kim, Young Mi Hong, Sin Weon Yun, Kyung Yil Lee, Kyung Lim Yoon, Myung Ki Han, Gi Beom Kim, Hong Ryang Kil, Min Seob Song, Hyoung Doo Lee, Kee Soo Ha, Hyun Ok Jun, Byung Ok Choi, Yeon Mok Oh, Jeong Jin Yu, Gi Young Jang, Jong Keuk Lee

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Article number	e38
Journal	Genomics and Informatics
Volume	19
Issue number	4
DOIs	https://doi.org/10.5808/gi.21046
Publication status	Published - Dec 2021

Bibliographical note

Publisher Copyright:
© 2021 Korea Genome Organization.

Keywords

Association study
Coronary artery aneurysms
Kawasaki disease
Whole exome sequencing

Access to Document

10.5808/gi.21046

Cite this

Kim, J. J., Hong, Y. M., Yun, S. W., Lee, K. Y., Yoon, K. L., Han, M. K., Kim, G. B., Kil, H. R., Song, M. S., Lee, H. D., Ha, K. S., Jun, H. O., Choi, B. O., Oh, Y. M., Yu, J. J., Jang, G. Y., & Lee, J. K. (2021). Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing. Genomics and Informatics, 19(4), Article e38. https://doi.org/10.5808/gi.21046

@article{cdbe94e8def94342962d1709304efd92,

title = "Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing",

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.",

keywords = "Association study, Coronary artery aneurysms, Kawasaki disease, Whole exome sequencing",

author = "Kim, {Jae Jung} and Hong, {Young Mi} and Yun, {Sin Weon} and Lee, {Kyung Yil} and Yoon, {Kyung Lim} and Han, {Myung Ki} and Kim, {Gi Beom} and Kil, {Hong Ryang} and Song, {Min Seob} and Lee, {Hyoung Doo} and Ha, {Kee Soo} and Jun, {Hyun Ok} and Choi, {Byung Ok} and Oh, {Yeon Mok} and Yu, {Jeong Jin} and Jang, {Gi Young} and Lee, {Jong Keuk}",

note = "Publisher Copyright: {\textcopyright} 2021 Korea Genome Organization.",

year = "2021",

month = dec,

doi = "10.5808/gi.21046",

language = "English",

volume = "19",

journal = "Genomics and Informatics",

issn = "2234-0742",

publisher = "Korea Genome Organization",

number = "4",

}

TY - JOUR

T1 - Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

AU - Kim, Jae Jung

AU - Hong, Young Mi

AU - Yun, Sin Weon

AU - Lee, Kyung Yil

AU - Yoon, Kyung Lim

AU - Han, Myung Ki

AU - Kim, Gi Beom

AU - Kil, Hong Ryang

AU - Song, Min Seob

AU - Lee, Hyoung Doo

AU - Ha, Kee Soo

AU - Jun, Hyun Ok

AU - Choi, Byung Ok

AU - Oh, Yeon Mok

AU - Yu, Jeong Jin

AU - Jang, Gi Young

AU - Lee, Jong Keuk

PY - 2021/12

Y1 - 2021/12

N2 - 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.

AB - 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.

KW - Association study

KW - Coronary artery aneurysms

KW - Kawasaki disease

KW - Whole exome sequencing

UR - http://www.scopus.com/inward/record.url?scp=85126798909&partnerID=8YFLogxK

U2 - 10.5808/gi.21046

DO - 10.5808/gi.21046

M3 - Article

AN - SCOPUS:85126798909

SN - 2234-0742

VL - 19

JO - Genomics and Informatics

JF - Genomics and Informatics

IS - 4

M1 - e38

ER -

Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

Abstract

Bibliographical note

Keywords

Access to Document

Other files and links

Fingerprint

Cite this