Key result
The rs2254546 G allele was significantly associated with an increased risk of Kawasaki disease in a Taiwanese population (OR 1.54).
Why the study?
This study aimed to replicate three novel Kawasaki disease-associated SNPs, identified by GWAS in Japanese populations, in a Taiwanese population and investigate their association with coronary artery lesions.
Are the rs2254546, rs2857151, and rs4813003 SNPs associated with Kawasaki disease and coronary artery lesion development in a Taiwanese population?
Case-Control (n=1,244)
No
Are the rs2254546, rs2857151, and rs4813003 SNPs associated with Kawasaki disease and coronary artery lesion development in a Taiwanese population?
Odds Ratio: 1.54 (95% CI 1.27–1.86)
Absolute Event Rate: 81.5% vs 74.2%
p-value: p=1.0 × 10-5
The rs2254546 and rs4813003 SNPs are significantly associated with Kawasaki disease susceptibility in a Taiwanese population, validating previous GWAS findings from Japanese cohorts.
Replicates KD-associated SNPs in Taiwanese children; extends Japanese GWAS findings but leaves clinical translation open.
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.
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Chen et al. (2020) conducted a case-control in Kawasaki disease (n=1,244). rs2254546 G allele vs. Non-risk alleles (Controls) was evaluated on Kawasaki disease susceptibility (OR 1.54, 95% CI 1.27-1.86, p=1.0 × 10-5). The rs2254546 G allele was significantly associated with an increased risk of Kawasaki disease in a Taiwanese population (OR 1.54).
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