Common variants in CASP3 confer susceptibility to Kawasaki disease

Yoshihiro Onouchi, Kouichi Ozaki, Jane C. Buns, Chisato Shimizu, Hiromichi Hamada, Takafumi Honda, Masaru Terai, Akihito Honda, Takashi Takeuchi, Shoichi Shibuta, Tomohiro Suenaga, Hiroyuki Suzuki, Kouji Higashi, Kumi Yasukawa, Yoichi Suzuki, Kumiko Sasago, Yasushi Kemmotsu, Shinichi Takatsuki, Tsutomu Saji, Tetsushi YoshikawaToshiro Nagai, Kunihiro Hamamoto, Fumio Kishi, Kazunobu Ouchi, Yoshitake Sato, Jane W. Newburger, Annette L. Baker, Stanford T. Shulman, Anne H. Rowley, Mayumi Yashiro, Yoshikazu Nakamura, Keiko Wakui, Yoshimitsu Fukushima, Akihiro Fujino, Tatsuhiko Tsunoda, Tomisaku Kawasaki, Akira Hata, Yusuke Nakamura, Toshihiro Tanaka

研究成果: Article査読

98 被引用数 (Scopus)

抄録

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 suggestthat altered CASP3 expression in immune effecter cells influences susceptibility to KD.

本文言語English
論文番号ddq176
ページ(範囲)2898-2906
ページ数9
ジャーナルHuman molecular genetics
19
14
DOI
出版ステータスPublished - 27-04-2010

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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