Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility
© 2023. BioMed Central Ltd., part of Springer Nature..
BACKGROUND: Kawasaki disease (KD) is an acute pediatric vasculitis affecting genetically susceptible infants and children. Although the pathogenesis of KD remains unclear, growing evidence links genetic susceptibility to the disease.
METHODS: To explore the genes associated with susceptibility in KD, we applied whole-exome sequencing to KD and control subjects from Yunnan province, China. We conducted association study analysis on the two groups.
RESULTS: In this study, we successfully identified 11 significant rare variants in two genes (MYH14 and RBP3) through the genotype/allele frequency analysis. A heterozygous variant (c.2650G > A, p.V884M) of the RBP3 gene was identified in 12 KD cases, while eight heterozygous variants (c.566G > A, p.R189H; c.1109 C > T, p.S370L; c.3917T > G, p.L1306R; c.4301G > A, p.R1434Q; c.5026 C > T, p.R1676W; c.5329 C > T, p.R1777C; c.5393 C > A, p.A1798D and c.5476 C > T, p.R1826C) of the MYH14 gene were identified in 8 KD cases respectively.
CONCLUSION: This study suggested that nine variants in MYH14 and RBP3 gene may be associated with KD susceptibility in the population from Yunnan province.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:21 |
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| Enthalten in: |
Pediatric rheumatology online journal - 21(2023), 1 vom: 07. Aug., Seite 78 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Zhang, Xing [VerfasserIn] |
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| Links: |
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| Themen: |
Association study |
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| Anmerkungen: |
Date Completed 09.08.2023 Date Revised 21.11.2023 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s12969-023-00857-0 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM360504000 |
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| 520 | |a © 2023. BioMed Central Ltd., part of Springer Nature. | ||
| 520 | |a BACKGROUND: Kawasaki disease (KD) is an acute pediatric vasculitis affecting genetically susceptible infants and children. Although the pathogenesis of KD remains unclear, growing evidence links genetic susceptibility to the disease | ||
| 520 | |a METHODS: To explore the genes associated with susceptibility in KD, we applied whole-exome sequencing to KD and control subjects from Yunnan province, China. We conducted association study analysis on the two groups | ||
| 520 | |a RESULTS: In this study, we successfully identified 11 significant rare variants in two genes (MYH14 and RBP3) through the genotype/allele frequency analysis. A heterozygous variant (c.2650G > A, p.V884M) of the RBP3 gene was identified in 12 KD cases, while eight heterozygous variants (c.566G > A, p.R189H; c.1109 C > T, p.S370L; c.3917T > G, p.L1306R; c.4301G > A, p.R1434Q; c.5026 C > T, p.R1676W; c.5329 C > T, p.R1777C; c.5393 C > A, p.A1798D and c.5476 C > T, p.R1826C) of the MYH14 gene were identified in 8 KD cases respectively | ||
| 520 | |a CONCLUSION: This study suggested that nine variants in MYH14 and RBP3 gene may be associated with KD susceptibility in the population from Yunnan province | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Association study | |
| 650 | 4 | |a Kawasaki disease | |
| 650 | 4 | |a Susceptibility | |
| 650 | 4 | |a Whole-exome sequencing | |
| 700 | 1 | |a Sun, Ying |e verfasserin |4 aut | |
| 700 | 1 | |a Meng, Lijuan |e verfasserin |4 aut | |
| 700 | 1 | |a Ye, Caixia |e verfasserin |4 aut | |
| 700 | 1 | |a Han, Huifeng |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Tiesong |e verfasserin |4 aut | |
| 700 | 1 | |a Feng, Yue |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Jianxiao |e verfasserin |4 aut | |
| 700 | 1 | |a Duan, Lifen |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Yanfei |e verfasserin |4 aut | |
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