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KMID : 1132720210190040038
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Genomics & Informatics
2021 Volume.19 No. 4 p.38 ~ p.38
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Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing
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Kim Jae-Jung
Hong Young-Mi
Yun Sin-Weon
Lee Kyung-Yil
Yoon Kyung-Lim
Han Myung-Ki
Kim Gi-Beom
Kil Hong-Ryang
Song Min-Seob
Lee Hyoung-Doo
Ha Kee-Soo
Jun Hyun-Ok
Choi Byung-Ok
Oh Yeon-Mok
Yu Jeong-Jin
Jang Gi-Young
Lee Jong-Keuk
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Abstract
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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.
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KEYWORD
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association study, coronary artery aneurysms, Kawasaki disease, whole exome sequencing
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