title: Common variants in CASP3 confer susceptibility to Kawasaki disease.
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.
authors.affiliation: Laboratory for Cardiovascular diseases, Center for Genomic Medicine RIKEN, Yokohama 230-0045, Japan. onouchi@src.riken.jp
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Onouchi
authors.forename: Kouichi
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authors.lastname: Ozaki
authors.forename: Jane C
authors.initials: JC
authors.lastname: Buns
authors.forename: Chisato
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authors.lastname: Shimizu
authors.forename: Hiromichi
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authors.lastname: Hamada
authors.forename: Takafumi
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authors.lastname: Honda
authors.forename: Masaru
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authors.lastname: Terai
authors.forename: Akihito
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authors.lastname: Honda
authors.forename: Takashi
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authors.forename: Shoichi
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authors.lastname: Shibuta
authors.forename: Tomohiro
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authors.lastname: Suenaga
authors.forename: Hiroyuki
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authors.lastname: Suzuki
authors.forename: Kouji
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authors.lastname: Higashi
authors.forename: Kumi
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authors.lastname: Yasukawa
authors.forename: Yoichi
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authors.lastname: Suzuki
authors.forename: Kumiko
authors.initials: K
authors.lastname: Sasago
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kemmotsu
authors.forename: Shinichi
authors.initials: S
authors.lastname: Takatsuki
authors.forename: Tsutomu
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authors.lastname: Saji
authors.forename: Tetsushi
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Hamamoto
authors.forename: Fumio
authors.initials: F
authors.lastname: Kishi
authors.forename: Kazunobu
authors.initials: K
authors.lastname: Ouchi
authors.forename: Yoshitake
authors.initials: Y
authors.lastname: Sato
authors.forename: Jane W
authors.initials: JW
authors.lastname: Newburger
authors.forename: Annette L
authors.initials: AL
authors.lastname: Baker
authors.forename: Stanford T
authors.initials: ST
authors.lastname: Shulman
authors.forename: Anne H
authors.initials: AH
authors.lastname: Rowley
authors.forename: Mayumi
authors.initials: M
authors.lastname: Yashiro
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Akihiro
authors.initials: A
authors.lastname: Fujino
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Tsunoda
authors.forename: Tomisaku
authors.initials: T
authors.lastname: Kawasaki
authors.forename: Akira
authors.initials: A
authors.lastname: Hata
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001665:Binding Sites / Q000235:genetics; D016022:Case-Control Studies; D053148:Caspase 3 / Q000235:genetics* / Q000378:metabolism / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D015810:Linkage Disequilibrium; D008297:Male; D009080:Mucocutaneous Lymph Node Syndrome / Q000235:genetics*; D050778:NFATC Transcription Factors / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011485:Protein Binding; D044465:White People / Q000235:genetics
chemical_list: D050778:NFATC Transcription Factors; C505407:CASP3 protein, human; D053148:Caspase 3