Journal
HUMAN MOLECULAR GENETICS
Volume 19, Issue 14, Pages 2898-2906Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddq176
Keywords
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Funding
- Millennium Project
- Japan Kawasaki disease Research Center
- Ministry of Health, Labour and Welfare [0401040]
- Heart, Lung and Blood Institute of the National Institutes of Health [HL-06941]
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Kawasaki disease (KD; OMIM 611775) is an acute vasculitis syndrome which predominantly affects small- and medium-sized arteries of infants and children. Epidemiological data suggest that host genetics underlie the disease pathogenesis. Here we report that multiple variants in the caspase-3 gene (CASP3) that are in linkage disequilibrium confer susceptibility to KD in both Japanese and US subjects of European ancestry. We found that a G to A substitution of one commonly associated SNP located in the 5' untranslated region of CASP3 (rs72689236; P = 4.2 x 10(-8) in the Japanese and P = 3.7 x 10(-3) in the European Americans) abolished binding of nuclear factor of activated T cells to the DNA sequence surrounding the SNP. Our findings suggest that altered CASP3 expression in immune effecter cells influences susceptibility to KD.
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