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Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

Publication ,  Journal Article
Tsai, F-J; Lee, Y-C; Chang, J-S; Huang, L-M; Huang, F-Y; Chiu, N-C; Chen, M-R; Chi, H; Lee, Y-J; Chang, L-C; Liu, Y-M; Wang, H-H; Chen, C-H ...
Published in: PLoS One
February 4, 2011

Kawasaki disease (KD) is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS) in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs) detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit) gene: rs1873668 (p = 9.52×10⁻⁵), rs4243399 (p = 9.93×10⁻⁵), and rs16849083 (p = 9.93×10⁻⁵). We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1) gene (rs149481, p(best) = 4.61×10⁻⁵). Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667) clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best)-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

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Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

February 4, 2011

Volume

6

Issue

2

Start / End Page

e16853

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Mucocutaneous Lymph Node Syndrome
  • Male
  • Infant
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetics, Population
  • Genetic Predisposition to Disease
  • Genetic Loci
 

Citation

APA
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MLA
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Tsai, F.-J., Lee, Y.-C., Chang, J.-S., Huang, L.-M., Huang, F.-Y., Chiu, N.-C., … Wu, J.-Y. (2011). Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. PLoS One, 6(2), e16853. https://doi.org/10.1371/journal.pone.0016853
Tsai, Fuu-Jen, Yi-Ching Lee, Jeng-Sheng Chang, Li-Min Huang, Fu-Yuan Huang, Nan-Chang Chiu, Ming-Ren Chen, et al. “Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.PLoS One 6, no. 2 (February 4, 2011): e16853. https://doi.org/10.1371/journal.pone.0016853.
Tsai F-J, Lee Y-C, Chang J-S, Huang L-M, Huang F-Y, Chiu N-C, et al. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. PLoS One. 2011 Feb 4;6(2):e16853.
Tsai, Fuu-Jen, et al. “Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.PLoS One, vol. 6, no. 2, Feb. 2011, p. e16853. Pubmed, doi:10.1371/journal.pone.0016853.
Tsai F-J, Lee Y-C, Chang J-S, Huang L-M, Huang F-Y, Chiu N-C, Chen M-R, Chi H, Lee Y-J, Chang L-C, Liu Y-M, Wang H-H, Chen C-H, Chen Y-T, Wu J-Y. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study. PLoS One. 2011 Feb 4;6(2):e16853.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

February 4, 2011

Volume

6

Issue

2

Start / End Page

e16853

Location

United States

Related Subject Headings

  • Polymorphism, Single Nucleotide
  • Mucocutaneous Lymph Node Syndrome
  • Male
  • Infant
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetics, Population
  • Genetic Predisposition to Disease
  • Genetic Loci