Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/70027
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Type: Journal article
Title: Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease
Author: Khor, C.
Goldwater, P.
Citation: Nature Genetics, 2011; 43(12):1241-1246
Publisher: Nature Publishing Group
Issue Date: 2011
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Chiea Chuen Khor... et al.
Abstract: Kawasaki disease is a systemic vasculitis of unknown etiology, with clinical observations suggesting a substantial genetic contribution to disease susceptibility. We conducted a genome-wide association study and replication analysis in 2,173 individuals with Kawasaki disease and 9,383 controls from five independent sample collections. Two loci exceeded the formal threshold for genome-wide significance. The first locus is a functional polymorphism in the IgG receptor gene FCGR2A (encoding an H131R substitution) (rs1801274; P = 7.35 × 10−11, odds ratio (OR) = 1.32), with the A allele (coding for histadine) conferring elevated disease risk. The second locus is at 19q13, (P = 2.51 × 10−9, OR = 1.42 for the rs2233152 SNP near MIA and RAB4B; P = 1.68 × 10−12, OR = 1.52 for rs28493229 in ITPKC), which confirms previous findings1. The involvement of the FCGR2A locus may have implications for understanding immune activation in Kawasaki disease pathogenesis and the mechanism of response to intravenous immunoglobulin, the only proven therapy for this disease.
Keywords: Hong Kong–Shanghai Kawasaki Disease Genetics Consortium
Korean Kawasaki Disease Genetics Consortium
Taiwan Kawasaki Disease Genetics Consortium
International Kawasaki Disease Genetics Consortium
US Kawasaki Disease Genetics Consortium
Blue Mountains Eye Study
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 19
Humans
Mucocutaneous Lymph Node Syndrome
Genetic Predisposition to Disease
Receptors, IgG
Case-Control Studies
Haplotypes
Linkage Disequilibrium
Polymorphism, Single Nucleotide
Multigene Family
Principal Component Analysis
Genome-Wide Association Study
Genetic Loci
Rights: © 2011 Nature America, Inc. All rights reserved.
DOI: 10.1038/ng.981
Published version: http://dx.doi.org/10.1038/ng.981
Appears in Collections:Aurora harvest 5
Paediatrics publications

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