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

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 variant...

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Veröffentlicht in:Scientific reports 2020-07, Vol.10 (1), p.11756-11756, Article 11756
Hauptverfasser: Chen, Ming-Ren, Chang, Tzu-Yang, Chiu, Nan-Chang, Chi, Hsin, Yang, Kuender D., Chang, Lung, Huang, Daniel Tsung-Ning, Huang, Fu-Yuan, Lien, Ya-Ping, Lin, Wen-Shan, Lin, Chiung-Ling, Chang, Luan-Yin, Lee, Yann-Jinn
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container_title Scientific reports
container_volume 10
creator Chen, Ming-Ren
Chang, Tzu-Yang
Chiu, Nan-Chang
Chi, Hsin
Yang, Kuender D.
Chang, Lung
Huang, Daniel Tsung-Ning
Huang, Fu-Yuan
Lien, Ya-Ping
Lin, Wen-Shan
Lin, Chiung-Ling
Chang, Luan-Yin
Lee, Yann-Jinn
description 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.
doi_str_mv 10.1038/s41598-020-68673-0
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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. 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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. 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subjects 631/208
631/250
692/308
692/4017
692/420
692/499
692/53
692/699
Adolescent
Adult
Aged
Alleles
Asian Continental Ancestry Group - genetics
Case-Control Studies
Child
Child, Preschool
Children
Coronary artery
DNA sequencing
Etiology
Female
Gene Frequency
Genetic diversity
Genetic Predisposition to Disease
Genetic Variation
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genotype
Humanities and Social Sciences
Humans
Infant
Infants
Kawasaki disease
Male
Middle Aged
Mucocutaneous lymph node syndrome
Mucocutaneous Lymph Node Syndrome - genetics
multidisciplinary
Odds Ratio
Polymorphism, Single Nucleotide
Population studies
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
Systemic vasculitis
Taiwan
Young Adult
title Validation of genome-wide associated variants for Kawasaki disease in a Taiwanese case–control sample
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