High-density genotyping of immune loci in Kawasaki disease and IVIG treatment response in European-American case–parent trio study
| Autor: | Michael A. Portman, Ana I. Vazquez, Howard W. Wiener, Degui Zhi, Aditi Shendre, Sadeep Shrestha |
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| Rok vydání: | 2014 |
| Předmět: |
Male
Treatment response Genotype Genotyping Techniques Immunology Syntaxin 1 High density Mucocutaneous Lymph Node Syndrome Biology Polymorphism Single Nucleotide Article White People Nuclear Family 03 medical and health sciences 0302 clinical medicine Immune system hemic and lymphatic diseases Immunogenetics Genetics medicine Humans intravenous immunoglobulins therapy Genetic Predisposition to Disease Child 3' Untranslated Regions Genotyping Genetics (clinical) 030304 developmental biology 0303 health sciences Kawasaki disease Immunoglobulins Intravenous Infant Immune-related genes Fucosyltransferases medicine.disease Introns United States 3. Good health Logistic Models Treatment Outcome Case parent trio Child Preschool 030220 oncology & carcinogenesis Multivariate Analysis Female |
| Zdroj: | Genes and immunity |
| ISSN: | 1476-5470 1466-4879 |
| DOI: | 10.1038/gene.2014.47 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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