Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility

Abstract

Abstract 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. To explore the genes associated with susceptibility in KD, we conducted whole-exome sequencing of KD children from Yunnan province, China. Methods: We retrospectively evaluated the data from 93 KD patients and 91 non-KD controls who underwent whole-exome sequencing. Results: In this study, we successfully collected and identified relationships between two significant rare variant genes (MYH14 and RBP3) and Kawasaki disease through the genotype/allele frequency analysis (odds ratio [OR], 8.3945 to 13.1963; p-value, 0.0025 to 0.0346). The eight of 20 KD patients all have heterogeneous variants in Chr19: 50281727 (G/A), Chr19: 50223086 (G/A), Chr19: 50280044 (T/G), Chr19: 50301707 (C/A), Chr19: 50301790 (C/T), Chr19: 50293670 (C/T), Chr19: 50292282 (C/T), Chr19: 50244260 (C/T), and the remaining twelve cases had heterogeneous variants in Chr10: 47351134 (G/A), associated with retinitis pigmentosa, which may be associated to one clinal manifestation of KD. Conclusion: This study suggested that two genes MYH14 and RBP3 may be associated with KD susceptibility in the population from Yunnan province.