High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case-parent trio study.

Academic Article


  • Kawasaki disease (KD) is a diffuse and acute small-vessel vasculitis observed in children, and has genetic and autoimmune components. We genotyped 112 case-parent trios of European decent (confirmed by ancestry informative markers) using the immunoChip array, and performed association analyses with susceptibility to KD and intravenous immunoglobulin (IVIG) non-response. KD susceptibility was assessed using the transmission disequilibrium test, whereas IVIG non-response was evaluated using multivariable logistic regression analysis. We replicated single-nucleotide polymorphisms (SNPs) in three gene regions (FCGR, CD40/CDH22 and HLA-DQB2/HLA-DOB) that have been previously associated with KD and provide support to other findings of several novel SNPs in genes with a potential pathway in KD pathogenesis. SNP rs838143 in the 3'-untranslated region of the FUT1 gene (2.7 × 10(-5)) and rs9847915 in the intergenic region of LOC730109 | BRD7P2 (6.81 × 10(-7)) were the top hits for KD susceptibility in additive and dominant models, respectively. The top hits for IVIG responsiveness were rs1200332 in the intergenic region of BAZ1A | C14orf19 (1.4 × 10(-4)) and rs4889606 in the intron of the STX1B gene (6.95 × 10(-5)) in additive and dominant models, respectively. Our study suggests that genes and biological pathways involved in autoimmune diseases have an important role in the pathogenesis of KD and IVIG response mechanism.
  • Published In

  • Genes and Immunity  Journal
  • Keywords

  • 3' Untranslated Regions, Child, Child, Preschool, European Continental Ancestry Group, Female, Fucosyltransferases, Genetic Predisposition to Disease, Genotype, Genotyping Techniques, Humans, Immunoglobulins, Intravenous, Infant, Introns, Logistic Models, Male, Mucocutaneous Lymph Node Syndrome, Multivariate Analysis, Nuclear Family, Polymorphism, Single Nucleotide, Syntaxin 1, Treatment Outcome, United States
  • Digital Object Identifier (doi)

    Author List

  • Shendre A; Wiener HW; Zhi D; Vazquez AI; Portman MA; Shrestha S
  • Start Page

  • 534
  • End Page

  • 542
  • Volume

  • 15
  • Issue

  • 8