Chen M.-R.Chang T.-Y.Chiu N.-C.Chi H.Yang K.D.Chang L.Huang D.T.-N.Huang F.-Y.Lien Y.-P.Lin W.-S.Lin C.-L.LUAN-YIN CHANGLee Y.-J.2020-12-152020-12-1520202045-2322https://www.scopus.com/inward/record.uri?eid=2-s2.0-85087952249&doi=10.1038%2fs41598-020-68673-0&partnerID=40&md5=6422707dd6bc2255e01759f889511318https://scholars.lib.ntu.edu.tw/handle/123456789/525473Kawasaki 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. ? 2020, The Author(s).[SDGs]SDG3adolescent; adult; aged; allele; Asian continental ancestry group; case control study; child; female; gene frequency; genetic predisposition; genetic variation; genetics; genome-wide association study; genotype; human; infant; male; middle aged; mucocutaneous lymph node syndrome; odds ratio; preschool child; single nucleotide polymorphism; Taiwan; young adult; Adolescent; Adult; Aged; Alleles; Asian Continental Ancestry Group; Case-Control Studies; Child; Child, Preschool; Female; Gene Frequency; Genetic Predisposition to Disease; Genetic Variation; Genome-Wide Association Study; Genotype; Humans; Infant; Male; Middle Aged; Mucocutaneous Lymph Node Syndrome; Odds Ratio; Polymorphism, Single Nucleotide; Taiwan; Young Adultjournal article10.1038/s41598-020-68673-0326782082-s2.0-85087952249