Abstract |
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.
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Authors | A Shendre, H W Wiener, D Zhi, A I Vazquez, M A Portman, S Shrestha |
Journal | Genes and immunity
(Genes Immun)
Vol. 15
Issue 8
Pg. 534-42
(Dec 2014)
ISSN: 1476-5470 [Electronic] England |
PMID | 25101798
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- 3' Untranslated Regions
- Immunoglobulins, Intravenous
- Syntaxin 1
- Fucosyltransferases
- galactoside 2-alpha-L-fucosyltransferase
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Topics |
- 3' Untranslated Regions
(genetics)
- Child
- Child, Preschool
- Female
- Fucosyltransferases
(genetics)
- Genetic Predisposition to Disease
(ethnology, genetics)
- Genotype
- Genotyping Techniques
(methods)
- Humans
- Immunoglobulins, Intravenous
(therapeutic use)
- Infant
- Introns
(genetics)
- Logistic Models
- Male
- Mucocutaneous Lymph Node Syndrome
(drug therapy, ethnology, genetics)
- Multivariate Analysis
- Nuclear Family
- Polymorphism, Single Nucleotide
- Syntaxin 1
(genetics)
- Treatment Outcome
- United States
- White People
(genetics)
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