ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms

Nature Genetics

Volumn 40, Issue 1, 2008, Pages 35-42

  Onouchi, Yoshihiro ^a   Gunji, Tomohiko ^a,b   Burns, Jane C ^c,d   Shimizu, Chisato ^c,d   Newburger, Jane W ^e   Yashiro, Mayumi ^f   Nakamura, Yoshikazu ^f   Yanagawa, Hiroshi ^g   Wakui, Keiko ^h   Fukushima, Yoshimitsu ^h   Kishi, Fumio ⁱ   Hamamoto, Kunihiro ^j   Terai, Masaru ^k   Sato, Yoshitake ^l   Ouchi, Kazunobu ⁱ   Saji, Tsutomu ^m   Nariai, Akiyoshi ⁿ   Kaburagi, Yoichi ^n,w   Yoshikawa, Tetsushi ^o   Suzuki, Kyoko ^p   Tanaka, Takeo ^q   Nagai, Toshiro ^r   Cho, Hideo ^s   Fujino, Akihiro ^t   Sekine, Akihiro ^a   Nakamichi, Reiichiro ^a   Tsunoda, Tatsuhiko ^a   Kawasaki, Tomisaku ^u   Nakamura, Yusuke ^a,v   Hata, Akira ^a   more..

^a RIKEN   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d RADY CHILDREN'S HOSPITAL   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f JICHI MEDICAL UNIVERSITY   (Japan)

^g SAITAMA PREFECTURAL UNIVERSITY   (Japan)

^h SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ KAWASAKI MEDICAL SCHOOL   (Japan)

^j FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^k TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^l FUJI HEAVY INDUSTRIES LTD   (Japan)

^m TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁿ Yokohama Minami Kyosai Hospital   (Japan)

^o FUJITA HEALTH UNIVERSITY   (Japan)

^p Toyokawa City Hospital   (Japan)

^q NATIONAL HOSPITAL ORGANIZATION   (Japan)

^r DOKKYO MEDICAL UNIVERSITY   (Japan)

^s KAWASAKI MUNICIPAL HOSPITAL   (Japan)

^t KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^u Japan Kawasaki Disease Research Center   (Japan)

^v THE UNIVERSITY OF TOKYO   (Japan)

^w NATIONAL HOSPITAL ORGANIZATION YOKOHAMA MEDICAL CENTER   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; INOSITOL TRISPHOSPHATE 3 KINASE; INOSITOL TRISPHOSPHATE 3 KINASE C; MESSENGER RNA; TRANSCRIPTION FACTOR NFAT; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CALCIUM SIGNALING; CHROMOSOME 19Q; CONTROLLED STUDY; CORONARY ARTERY ANEURYSM; DISEASE PREDISPOSITION; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; JAPAN; MAJOR CLINICAL STUDY; MUCOCUTANEOUS LYMPH NODE SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; T LYMPHOCYTE ACTIVATION; UNITED STATES;

ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 19; CORONARY ANEURYSM; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE DISEQUILIBRIUM; LYMPHOCYTE ACTIVATION; MUCOCUTANEOUS LYMPH NODE SYNDROME; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING; T-LYMPHOCYTES;

EID: 37549027202     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2007.59     Document Type: Article

References (41)

1. Kawasaki, T. Acute febrile mucocutaneous syndrome with lymphoid involvement with specific desquamation of the fingers and toes: my clinical observation (in Japanese). Jpn. J. Allergy 16, 178-222 (1967).
2. English translation by Shike, H., Burns, J.C. & Shimizu, C. Pediatr. Infect. Dis. J. 21, 993-995 (2002).
3. Kato, H., Koike, S., Yamamoto, M., Ito, Y. & Yano, E. Coronary aneurysms in infants and young children with acute febrile mucocutaneous lymph node syndrome. J. Pediatr. 86, 892-898 (1975).
4. Kato, H. et al. Long-term consequences of Kawasaki disease. A 10- to 21-year follow-up study of 594 patients. Circulation 94, 1379-1385 (1996).
5. Cook, D.H. et al. Results from an international survey of Kawasaki disease in 1979-82. Can. J. Cardiol. 5, 389-394 (1989).
6. Fujita, Y. et al. Kawasaki disease in families. Pediatrics 84, 666-669 (1989).
7. Uehara, R., Yashiro, M., Nakamura, Y. & Yanagawa, H. Kawasaki disease in parents and children. Acta Paediatr. 92, 694-697 (2003).
8. Dergun, M. et al. Familial occurrence of Kawasaki syndrome in North America. Arch. Pediatr. Adolesc. Med. 159, 876-881 (2005).
9. Onouchi, Y. et al. A genome-wide linkage analysis for Kawasaki disease: evidence for linkage to chromosome 12. J. Hum. Genet. 52, 179-190 (2007).
10. Imboden, J.B. & Pattison, G. Regulation of inositol 1,4,5-trisphosphate kinase activity after stimulation of human T cell antigen receptor. J. Clin. Invest. 79, 1538-1541 (1987).
11. Dewaste, V. et al. Cloning and expression of a cDNA encoding human inositol 1,4,5-trisphosphate 3-kinase C. Biochem. J. 352, 343-351 (2000).
12. Berridge, M.J. & Irvine, R.F. Inositol trisphosphate, a novel second messenger in cellular signal transduction. Nature 312, 315-321 (1984).
13. Harnick, D.J. et al. The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes. Structure, localization, and tyrosine phosphorylation. J. Biol. Chem. 270, 2833-2840 (1995).
14. Weiss, A. & Littman, D.R. Signal transduction by lymphocyte antigen receptors. Cell 76, 263-274 (1994).
15. Macian, F. NFAT proteins: key regulators of T-cell development and function. Nat. Rev. Immunol. 5, 472-484 (2005).
16. Cogan, J.D. et al. A novel mechanism of aberrant pre-mRNA splicing in humans. Hum. Mol. Genet. 6, 909-912 (1997).
17. von Ahsen, N. & Oellerich, M. The intronic prothrombin 19911A>G polymorphism influences splicing efficiency and modulates effects of the 20210G>A polymorphism on mRNA amount and expression in a stable reporter gene assay system. Blood 103, 586-593 (2004).
18. Morisaki, H., Morisaki, T., Newby, L.K. & Holmes, E.W. Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect. J. Clin. Invest. 91, 2275-2280 (1993).
19. Krawczak, M. et al. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum. Mutat. 28, 150-158 (2007).
20. Krawczak, M., Reiss, J. & Cooper, D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90, 41-54 (1992).
21. Majewski, J. & Ott, J. Distribution and characterization of regulatory elements in the human genome. Genome Res. 12, 1827-1836 (2002).
22. Yeo, G., Hoon, S., Venkatesh, B. & Burge, C.B. Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc. Natl. Acad. Sci. USA 101, 15700-15705 (2004).
23. Louie, E., Ott, J. & Majewski, J. Nucleotide frequency variation across human genes. Genome Res. 13, 2594-2601 (2003).
24. McCullough, A.J. & Berget, S.M. G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection. Mol. Cell. Biol. 17, 4562-4571 (1997).
25. Buratti, E. & Baralle, F.E. Influence of RNA secondary structure on the pre-mRNA splicing process. Mol. Cell. Biol. 24, 10505-10514 (2004).
26. Varani, L. et al. Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc. Natl. Acad. Sci. USA 96, 8229-8234 (1999).
27. Yoshioka, T. et al. Polyclonal expansion of TCRBV2- and TCRBV6-bearing T cells in patients with Kawasaki disease. Immunology 96, 465-472 (1999).
28. Brown, T.J. et al. CD8 T lymphocytes and macrophages infiltrate coronary artery aneurysms in acute Kawasaki disease. J. Infect. Dis. 184, 940-943 (2001).
29. Fukunishi, M. et al. Prediction of non-responsiveness to intravenous high-dose gamma-globulin therapy in patients with Kawasaki disease at onset. J. Pediatr. 137, 172-176 (2000).
30. Egami, K. et al. Prediction of resistance to intravenous immunoglobulin treatment in patients with Kawasaki disease. J. Pediatr. 149, 237-240 (2006).
31. Sano, T. et al. Prediction of non-responsiveness to standard high-dose gamma-globulin therapy in patients with acute Kawasaki disease before starting initial treatment. Eur. J. Pediatr. 166, 131-137 (2007).
32. Kobayashi, T. et al. Prediction of intravenous immunoglobulin unresponsiveness in patients with Kawasaki disease. Circulation 113, 2606-2612 (2006).
33. Ho, S. et al. The mechanism of action of cyclosporin A and FK506. Clin. Immunol. Immunopathol. 80, S40-S45 (1996).
34. Raman, V., Kim, J., Sharkey, A. & Chatila, T. Response of refractory Kawasaki disease to pulse steroid and cyclosporin A therapy. Pediatr. Infect. Dis. J. 20, 635-637 (2001).
35. Lewis, R. Calcium signaling mechanisms in T lymphocytes. Annu. Rev. Immunol. 19, 497-521 (2001).
36. Ayusawa, M. et al. Revision of diagnostic guidelines for Kawasaki disease (the 5th revised edition). Pediatr. Int. 47, 232-234 (2005).
37. Burns, J.C. et al. Family-based association analysis implicates IL-4 in susceptibility to Kawasaki disease. Genes Immun. 6, 438-444 (2005).
38. Suzuki, A. et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat. Genet. 34, 395-402 (2003).
39. Spielman, R.S., McGinnis, R.E. & Ewens, W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52, 506-516 (1993).
40. Kazeem, G.R. & Farrall, M. Integrating case-control and TDT studies. Ann. Hum. Genet. 69, 329-335 (2005).
41. Uejima, H., Lee, M.P., Cui, H. & Feinberg, A.P. Hot-stop PCR: a simple and general assay for linear quantitation of allele ratios. Nat. Genet. 25, 375-376 (2000).