Common variants in CASP3 confer susceptibility to Kawasaki disease

Human Molecular Genetics

Volumn 19, Issue 14, 2010, Pages 2898-2906

  Onouchi, Yoshihiro ^a   Ozaki, Kouichi ^a   Buns, Jane C ^b,c,u   Shimizu, Chisato ^b,c,u   Hamada, Hiromichi ^d   Honda, Takafumi ^d   Terai, Masaru ^d   Honda, Akihito ^e   Takeuchi, Takashi ^f   Shibuta, Shoichi ^f   Suenaga, Tomohiro ^f   Suzuki, Hiroyuki ^f   Higashi, Kouji ^g   Yasukawa, Kumi ^g   Suzuki, Yoichi ^g   Sasago, Kumiko ^g   Kemmotsu, Yasushi ^h   Takatsuki, Shinichi ^h   Saji, Tsutomu ^h   Yoshikawa, Tetsushi ⁱ   Nagai, Toshiro ^j   Hamamoto, Kunihiro ^k   Kishi, Fumio ^l   Ouchi, Kazunobu ^l   Sato, Yoshitake ^m   Newburger, Jane W ^n,u   Baker, Annette L ^n,u   Shulman, Stanford T ^o,u   Rowley, Anne H ^o,u   Yashiro, Mayumi ^p   Nakamura, Yoshikazu ^p   Wakui, Keiko ^q   Fukushima, Yoshimitsu ^q   Fujino, Akihiro ^r   Tsunoda, Tatsuhiko ^a   Kawasaki, Tomisaku ^s   Hata, Akira ^g   Nakamura, Yusuke ^a,t   Tanaka, Toshihiro ^a   more..

^a RIKEN   (Japan)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c RADY CHILDREN'S HOSPITAL   (United States)

^d Tokyo Women s Medical University   (Japan)

^e ASAHI GENERAL HOSPITAL   (Japan)

^f WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^g CHIBA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^h TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ FUJITA HEALTH UNIVERSITY   (Japan)

^j DOKKYO MEDICAL UNIVERSITY   (Japan)

^k INTERNATIONAL UNIVERSITY OF HEALTH AND WELFARE   (Japan)

^l KAWASAKI MEDICAL SCHOOL   (Japan)

^m FUJI HEAVY INDUSTRIES LTD   (Japan)

ⁿ BOSTON CHILDREN S HOSPITAL   (United States)

^o NORTHWESTERN UNIVERSITY   (United States)

^p JICHI MEDICAL UNIVERSITY   (Japan)

^q SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^r NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^s Japan Kawasaki Disease Research Center   (Japan)

^t THE UNIVERSITY OF TOKYO   (Japan)

^u Laboratory for Medical Informatics Center for Genomic Medicine RIKEN ^*  (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CASPASE 3; GUANINE; NUCLEAR FACTOR; CASP3 PROTEIN, HUMAN; PROTEIN BINDING; TRANSCRIPTION FACTOR NFAT;

5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EUROPEAN AMERICAN; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; JAPANESE; MAJOR CLINICAL STUDY; MALE; MUCOCUTANEOUS LYMPH NODE SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DNA BINDING; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE ACTIVATION; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITE; CASE CONTROL STUDY; CAUCASIAN; CHILD; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; INFANT; METABOLISM; PHYSIOLOGY; PRESCHOOL CHILD;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITES; CASE-CONTROL STUDIES; CASPASE 3; CHILD; CHILD, PRESCHOOL; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; LINKAGE DISEQUILIBRIUM; MALE; MUCOCUTANEOUS LYMPH NODE SYNDROME; NFATC TRANSCRIPTION FACTORS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING;

EID: 77954530668     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq176     Document Type: Article

References (27)

1. Kawasaki, T. (1967) Acute febrile mucocutaneous syndrome with lymphoid involvement with specific desquamation of the fingers and toes in children. Arerugi, 16, 178-222.
2. Burns, J.C. (2002) Commentary: translation of Dr. Tomisaku Kawasaki's original report of fifty patients in 1967. Pediatr. Infect. Dis. J., 21, 993-995.
3. Kato, H., Koike, S., Yamamoto, M., Ito, Y. and Yano, E. (1975) Coronary aneurysms in infants and young children with acute febrile mucocutaneous lymph node syndrome. J. Pediatr., 86, 892-898.
4. Onouchi, Y., Tamari, M., Takahashi, A., Tsunoda, T., Yashiro, M., Nakamura, Y., Yanagawa, H., Wakui, K., Fukushima, Y., Kawasaki, T. et al. (2007) A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12. J. Hum. Genet., 52, 179-190.
5. Onouchi, Y., Gunji, T., Burns, J.C., Shimizu, C., Newburger, J.W., Yashiro, M., Nakamura, Y., Yanagawa, H., Wakui, K., Fukushima, Y. et al. (2008) ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat. Genet., 40, 35-42.
6. Yi, Q.J., Li, C.R. and Yang, X.Q. (2001) Effect of intravenous immunoglobulin on inhibiting peripheral blood lymphocyte apoptosis in acute Kawasaki disease. Acta Paediatr., 90, 623-627.
7. Tsujimoto, H., Takeshita, S., Nakatani, K., Kawamura, Y., Tokutomi, T. and Sekine, I. (2001) Delayed apoptosis of circulating neutrophils in Kawasaki disease. Clin. Exp. Immunol., 126, 355-364.
8. Woo, M., Hakem, R., Soengas, M.S., Duncan, G.S., Shahinian, A., Kägi, D., Hakem, A., McCurrach, M., Khoo, W., Kaufman, S.A. et al. (1998) Essential contribution of caspase 3/CPP32 to apoptosis and its associated nuclear changes. Genes Dev., 12, 806-819.
9. Hirota, J., Furuichi, T. and Mikoshiba, K. (1999) Inositol 1,4,5-trisphosphate receptor type 1 is a substrate for caspase-3 and is cleaved during apoptosis in a caspase-3-dependent manner. J. Biol. Chem., 274, 34433-34437.
10. Macián, F., García-Cózar, F., Im, S.H., Horton, H.F., Byrne, M.C. and Rao, A. (2002) Transcriptional mechanisms underlying lymphocyte tolerance. Cell, 109, 719-731.
11. Northrop, J.P., Ho, S.N., Chen, L., Thomas, D.J., Timmerman, L.A., Nolan, G.P., Admon, A. and Crabtree, G.R. (1994) NF-AT components define a family of transcription factors targeted in T-cell activation. Nature, 369, 497-502.
12. Sabbagh, L., Bourbonnière, M., Sékaly, R.P. and Cohen, L.Y. (2005) Selective up-regulation of caspase-3 gene expression following TCR engagement. Mol. Immunol., 42, 1345-1354.
13. Fischer, U., Jänicke, R.U. and Schulze-Osthoff, K. (2003) Many cuts to ruin: a comprehensive update of caspase substrates. Cell Death Differ., 10, 76-100.
14. Woo, M., Hakem, R., Furlonger, C., Hakem, A., Duncan, G.S., Sasaki, T., Bouchard, D., Lu, L., Wu, G.E., Paige, C.J. et al. (2003) Caspase-3 regulates cell cycle in B cells: a consequence of substrate specificity. Nat. Immunol., 4, 1016-1022.
15. Alam, A., Cohen, L.Y., Aouad, S. and Sékaly, R.P. (1999) Early activation of caspases during T lymphocyte stimulation results in selective substrate cleavage in nonapoptotic cells. J. Exp. Med., 190, 1879-1890.
16. Kennedy, N.J., Kataoka, T., Tschopp, J. and Budd, R.C. (1999) Caspase activation is required for T cell proliferation. J. Exp. Med., 190, 1891-1896.
17. Miossec, C., Dutilleul, V., Fassy, F. and Diu-Hercend, A. (1997) Evidence for CPP32 activation in the absence of apoptosis during T lymphocyte stimulation. J. Biol. Chem., 272, 13459-13462.
18. Puga, I., Rao, A. and Macián, F. (2008) Targeted cleavage of signaling proteins by caspase 3 inhibits T cell receptor signaling in anergic T cells. Immunity, 29, 193-204.
19. Masuda, K., Takei, S., Nomura, Y., Imanaka, H., Sameshima, K. and Yoshinaga, M. (1998) Transient low T cell response to streptococcal pyrogenic exotoxin-C in patients with Kawasaki disease. Pediatr. Res., 44, 27-31.
20. Kollmann, T.R., Klein, E.J., Stefanelli, C.B. and Marcuse, E.K. (2001) Purified protein derivative anergy in Kawasaki disease. Pediatr. Infect. Dis. J., 20, 81-82.
21. Kuijpers, T.W., Wiegman, A., van Lier, R.A., Roos, M.T., Wertheim-van Dillen, P.M., Pinedo, S. and Ottenkamp, J. (1999) Kawasaki disease: a maturational defect in immune responsiveness. J. Infect. Dis., 180, 1869-1877.
22. Wu, W., Misra, R.S., Russell, J.Q., Flavell, R.A., Rincón, M. and Budd, R.C. (2006) Proteolytic regulation of nuclear factor of activated T (NFAT) c2 cells and NFAT activity by caspase-3. J. Biol. Chem., 281, 10682-10690.
23. Ayusawa, M., Sonobe, T., Uemura, S., Ogawa, S., Nakamura, Y., Kiyosawa, N., Ishii, M. and Harada, K. (2005) Revision of diagnostic guidelines for Kawasaki disease (the 5th revised edition). Pediatr. Int., 47, 232-234.
24. Suzuki, A., Yamada, R., Chang, X., Tokuhiro, S., Sawada, T., Suzuki, M., Nagasaki, M., Nakayama-Hamada, M., Kawaida, R., Ono, M. et al. (2003) Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat. Genet., 34, 395-402.
25. Spielman, R.S., McGinnis, R.E. and Ewens, W.J. (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet., 52, 506-516.
26. Tregouet, D.A. and Garelle, V. (2007) A new JAVA interface implementation of THESIAS: testing haplotype effects in association studies. Bioinformatics, 23, 1038-1039.
27. Uejima, H., Lee, M.P., Cui, H. and Feinberg, A.P. (2000) Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat. Genet., 25, 375-376.