Abstract
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 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.
Highlights
Kawasaki disease (KD) is an acute febrile systemic vasculitis of unknown etiology that affects infants and young children
Association tests revealed significant differences in the distribution of genotypes and alleles of single nucleotide polymorphisms (SNPs) rs2254546 A/G (P = 3.5 × 10–5 and 1.0 × 10–5) and rs4813003 C/T (P = 2.0 × 10–3 and 8.1 × 10–4) between controls and KD children, which remained significant after Bonferroni correction (Pc < 0.05) (Tables 1, 3)
The frequencies of rs2254546 G/G genotype and G allele and rs4813003 C/C genotype and C allele significantly increased in children with KD than in the controls
Summary
Kawasaki disease (KD) is an acute febrile systemic vasculitis of unknown etiology that affects infants and young children. 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 these SNPs and development of coronary artery lesions (CALs) were investigated. Genome-wide association study (GWAS) is a systematic approach to analyze the correlation between genetic markers and human diseases. This method allows one to find out disease-associated variants across the genome. A total of 7 KD GWAS have been conducted in different races and some novel associated KD loci are identified[8,9,10,11,12,13,14]
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