Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility
Authors' conclusion
This study suggested that nine variants in MYH14 and RBP3 gene may be associated with KD susceptibility in the population from Yunnan province.
Study context
- Population
- Kawasaki disease (KD) and control subjects from Yunnan province, China
- Comparison
- KD vs control subjects
- Outcome
- Rare variants associated with KD susceptibility (genotype/allele frequency analysis)
Methodological detailswhole-exome sequencing, case-control
- Whole-exome sequencing
- Case-control
Main finding
As reported in the abstract
Significant rare variants associated with KD
Significant rare variants identified in two genes (MYH14 and RBP3)
11
KD cases with heterozygous RBP3 variant c.2650G > A, p.V884M
12
KD cases with one of eight heterozygous MYH14 variants (p.R189H, p.S370L, p.L1306R, p.R1434Q, p.R1676W, p.R1777C, p.A1798D, p.R1826C), respectively
8
Observational data: associations, not effects.
Original publication
Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility. Pediatr Rheumatol Online J. Published 7 August 2023. doi:10.
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