Journal
NATURE GENETICS
Volume 44, Issue 5, Pages 517-+Publisher
NATURE RESEARCH
DOI: 10.1038/ng.2220
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Funding
- Rotary Club of Osaka-Midosuji District Rotary International in Japan
- BioBank Japan project
- Millennium Project
- Japan Kawasaki Disease Research Center
- Ministry of Health, Labour and Welfare [0401040]
- Heart, Lung, and Blood Institute of the US National Institutes of Health [HL-06941]
- Grants-in-Aid for Scientific Research [24591584, 22591190, 23591588, 22116010] Funding Source: KAKEN
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We performed a genome-wide association study (GWAS) of Kawasaki disease in Japanese subjects using data from 428 individuals with Kawasaki disease (cases) and 3,379 controls genotyped at 473,803 SNPs. We validated the association results in two independent replication panels totaling 754 cases and 947 controls. We observed significant associations in the FAM167A-BLK region at 8p22-23 (rs2254546, P = 8.2 x 10(-21)), in the human leukocyte antigen (HLA) region at 6p21.3 (rs2857151, P = 4.6 x 10(-11)) and in the CD40 region at 20q13 (rs4813003, P = 4.8 x 10(-8)). We also replicated the association of a functional SNP of FCGR2A (rs1801274, P = 1.6 x 10(-6)) identified in a recently reported GWAS of Kawasaki disease. Our findings provide new insights into the pathogenesis and pathophysiology of Kawasaki disease.
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