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

Pediatrics

Research output: Contribution to journal › Article › peer-review

133 Citations (Scopus)

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.

Original language	English
Article number	ddq176
Pages (from-to)	2898-2906
Number of pages	9
Journal	Human molecular genetics
Volume	19
Issue number	14
DOIs	https://doi.org/10.1093/hmg/ddq176
Publication status	Published - 27-04-2010

All Science Journal Classification (ASJC) codes

Molecular Biology
Genetics
Genetics(clinical)

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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. Article ddq176. https://doi.org/10.1093/hmg/ddq176

@article{9a42531eb148433ab7d5ac84f1b2625d,

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.).",

year = "2010",

month = apr,

day = "27",

doi = "10.1093/hmg/ddq176",

language = "English",

volume = "19",

pages = "2898--2906",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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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

TY - JOUR

T1 - Common variants in CASP3 confer susceptibility to Kawasaki disease

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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DO - 10.1093/hmg/ddq176

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AN - SCOPUS:77954530668

SN - 0964-6906

VL - 19

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EP - 2906

JO - Human molecular genetics

JF - Human molecular genetics

IS - 14

M1 - ddq176

ER -

Common variants in CASP3 confer susceptibility to Kawasaki disease

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