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 Yoshikawa; Toshiro 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

doi:10.1093/hmg/ddq176

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

112 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
巻	19
号	14
DOI	https://doi.org/10.1093/hmg/ddq176
出版ステータス	Published - 2010 4月 27
外部発表	はい

ASJC Scopus subject areas

分子生物学
遺伝学
遺伝学（臨床）

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10.1093/hmg/ddq176

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引用スタイル

Onouchi, Y., Ozaki, K., Buns, J. C., 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., ... Tanaka, T. (2010). Common variants in CASP3 confer susceptibility to Kawasaki disease. Human molecular genetics, 19(14), 2898-2906. [ddq176]. https://doi.org/10.1093/hmg/ddq176

Common variants in CASP3 confer susceptibility to Kawasaki disease. / Onouchi, Yoshihiro; Ozaki, Kouichi; Buns, Jane C.; Shimizu, Chisato; Hamada, Hiromichi; Honda, Takafumi; Terai, Masaru; Honda, Akihito; Takeuchi, Takashi; Shibuta, Shoichi; Suenaga, Tomohiro; Suzuki, Hiroyuki; Higashi, Kouji; Yasukawa, Kumi; Suzuki, Yoichi; Sasago, Kumiko; Kemmotsu, Yasushi; Takatsuki, Shinichi; Saji, Tsutomu; Yoshikawa, Tetsushi; Nagai, Toshiro; Hamamoto, Kunihiro; Kishi, Fumio; Ouchi, Kazunobu; Sato, Yoshitake; Newburger, Jane W.; Baker, Annette L.; Shulman, Stanford T.; Rowley, Anne H.; Yashiro, Mayumi; Nakamura, Yoshikazu; Wakui, Keiko; Fukushima, Yoshimitsu; Fujino, Akihiro; Tsunoda, Tatsuhiko; Kawasaki, Tomisaku; Hata, Akira; Nakamura, Yusuke; Tanaka, Toshihiro.

In: Human molecular genetics, Vol. 19, No. 14, ddq176, 27.04.2010, p. 2898-2906.

研究成果: Article › 査読

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 2010, 'Common variants in CASP3 confer susceptibility to Kawasaki disease', Human molecular genetics, vol. 19, no. 14, ddq176, pp. 2898-2906. https://doi.org/10.1093/hmg/ddq176

Onouchi, Yoshihiro ; Ozaki, Kouichi ; Buns, Jane C. ; Shimizu, Chisato ; Hamada, Hiromichi ; Honda, Takafumi ; Terai, Masaru ; Honda, Akihito ; Takeuchi, Takashi ; Shibuta, Shoichi ; Suenaga, Tomohiro ; Suzuki, Hiroyuki ; Higashi, Kouji ; Yasukawa, Kumi ; Suzuki, Yoichi ; Sasago, Kumiko ; Kemmotsu, Yasushi ; Takatsuki, Shinichi ; Saji, Tsutomu ; Yoshikawa, Tetsushi ; Nagai, Toshiro ; Hamamoto, Kunihiro ; Kishi, Fumio ; Ouchi, Kazunobu ; Sato, Yoshitake ; Newburger, Jane W. ; Baker, Annette L. ; Shulman, Stanford T. ; Rowley, Anne H. ; Yashiro, Mayumi ; Nakamura, Yoshikazu ; Wakui, Keiko ; Fukushima, Yoshimitsu ; Fujino, Akihiro ; Tsunoda, Tatsuhiko ; Kawasaki, Tomisaku ; Hata, Akira ; Nakamura, Yusuke ; Tanaka, Toshihiro. / Common variants in CASP3 confer susceptibility to Kawasaki disease. In: Human molecular genetics. 2010 ; Vol. 19, No. 14. pp. 2898-2906.

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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 × 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.",

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

note = "Funding Information: This work was supported by grants from the Millennium Project, from Japan Kawasaki disease Research Center and from the Ministry of Health, Labour and Welfare (0401040 to A.H.) and by a grant from the Heart, Lung and Blood Institute of the National Institutes of Health (HL-06941 to J.C.B.).",

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doi = "10.1093/hmg/ddq176",

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AU - Onouchi, Yoshihiro

AU - Ozaki, Kouichi

AU - Buns, Jane C.

AU - Shimizu, Chisato

AU - Hamada, Hiromichi

AU - Honda, Takafumi

AU - Terai, Masaru

AU - Honda, Akihito

AU - Takeuchi, Takashi

AU - Shibuta, Shoichi

AU - Suenaga, Tomohiro

AU - Suzuki, Hiroyuki

AU - Higashi, Kouji

AU - Yasukawa, Kumi

AU - Suzuki, Yoichi

AU - Sasago, Kumiko

AU - Kemmotsu, Yasushi

AU - Takatsuki, Shinichi

AU - Saji, Tsutomu

AU - Yoshikawa, Tetsushi

AU - Nagai, Toshiro

AU - Hamamoto, Kunihiro

AU - Kishi, Fumio

AU - Ouchi, Kazunobu

AU - Sato, Yoshitake

AU - Newburger, Jane W.

AU - Baker, Annette L.

AU - Shulman, Stanford T.

AU - Rowley, Anne H.

AU - Yashiro, Mayumi

AU - Nakamura, Yoshikazu

AU - Wakui, Keiko

AU - Fukushima, Yoshimitsu

AU - Fujino, Akihiro

AU - Tsunoda, Tatsuhiko

AU - Kawasaki, Tomisaku

AU - Hata, Akira

AU - Nakamura, Yusuke

AU - Tanaka, Toshihiro

N1 - Funding Information: This work was supported by grants from the Millennium Project, from Japan Kawasaki disease Research Center and from the Ministry of Health, Labour and Welfare (0401040 to A.H.) and by a grant from the Heart, Lung and Blood Institute of the National Institutes of Health (HL-06941 to J.C.B.).

PY - 2010/4/27

Y1 - 2010/4/27

N2 - 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.

AB - 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.

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SN - 0964-6906

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Common variants in CASP3 confer susceptibility to Kawasaki disease

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