Validation of genome-wide associated variants for Kawasaki disease in a Taiwanese case–control sample

Ming-Ren Chen, Tzu-Yang Chang, Nan-Chang Chiu, Hsin Chi, Kuender D. Yang, Lung Chang, Daniel Tsung-Ning Huang, Fu-Yuan Huang, Ya-Ping Lien, Wen-Shan Lin, Chiung-Ling Lin, Luan-Yin Chang (+1 others)
2020 Scientific Reports  
Kawasaki disease (KD) is an acute febrile systemic vasculitis of unknown etiology that affects infants and young children. Considerable evidence supports the hypothesis that there is a genetic basis for KD susceptibility. Genome-wide association studies (GWAS) have identified several genetic variants associated with KD. This study aims to replicate three novel KD-associated single nucleotide polymorphisms (SNPs), identified by GWAS in Japanese, in a Taiwanese population. Associations between
more » ... ciations between these SNPs and development of coronary artery lesions (CALs) were also investigated. The rs2254546 A/G, rs2857151 A/G, and rs4813003 C/T SNPs were genotyped in 681 children with KD and 563 ethnically-matched healthy controls using TaqMan Assay or DNA sequencing. We found rs2254546 and rs4813003 SNPs were significantly associated with KD (G allele, odds ratio [OR] = 1.54, P = 1.0 × 10-5; C allele, OR = 1.32, P = 8.1 × 10-4). However, no evidence for associations with CAL development was observed. Our study successfully validates associations of the rs2254546 and rs4813003 SNPs with KD in a Taiwanese population. Further functional studies of the SNPs are important in understanding the pathogenesis of KD.
doi:10.1038/s41598-020-68673-0 pmid:32678208 fatcat:rduphcnt2nhlziviavzrqvo6vm