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- W2103553546 abstract "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 × 10−8 in the Japanese and P = 3.7 × 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." @default.
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- W2103553546 date "2010-04-27" @default.
- W2103553546 modified "2023-10-12" @default.
- W2103553546 title "Common variants in CASP3 confer susceptibility to Kawasaki disease" @default.
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- W2103553546 doi "https://doi.org/10.1093/hmg/ddq176" @default.
- W2103553546 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2893807" @default.
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