RRC ID 38165
Author Onouchi Y, Ozaki K, Buns JC, Shimizu C, Hamada H, Honda T, Terai M, Honda A, Takeuchi T, Shibuta S, Suenaga T, Suzuki H, Higashi K, Yasukawa K, Suzuki Y, Sasago K, Kemmotsu Y, Takatsuki S, Saji T, Yoshikawa T, Nagai T, Hamamoto K, Kishi F, Ouchi K, Sato Y, Newburger JW, Baker AL, Shulman ST, Rowley AH, Yashiro M, Nakamura Y, Wakui K, Fukushima Y, Fujino A, Tsunoda T, Kawasaki T, Hata A, Nakamura Y, Tanaka T.
Title Common variants in CASP3 confer susceptibility to Kawasaki disease.
Journal Hum Mol Genet
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 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.
Volume 19(14)
Pages 2898-906
Published 2010-7-15
DOI 10.1093/hmg/ddq176
PII ddq176
PMID 20423928
PMC PMC2893807
MeSH Adult Asian People / genetics Binding Sites / genetics Case-Control Studies Caspase 3 / genetics* Caspase 3 / metabolism Caspase 3 / physiology Child Child, Preschool Female Gene Frequency Genetic Predisposition to Disease* Genetic Testing Humans Infant Linkage Disequilibrium Male Mucocutaneous Lymph Node Syndrome / genetics* NFATC Transcription Factors / metabolism Polymorphism, Single Nucleotide* / physiology Protein Binding White People / genetics
IF 5.101
Times Cited 82
Human and Animal Cells HeLa(RCB0007)