Single-nucleotide polymorphism rs2290692 in the 30utr of itpkc associated with susceptibility to kawasaki disease in a han chinese population

Pediatric Cardiology

Volumn 33, Issue 7, 2012, Pages 1046-1053

  Peng, Qian ^a   Chen, Changhui ^a   Zhang, Yu ^a   He, Hailan ^a   Wu, Qing ^a   Liao, Jing ^a   Li, Bo ^a   Luo, Caidan ^a   Hu, Xiaoping ^a   Zheng, Zhi ^a   Yang, Yuan ^b  

^a SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^b SICHUAN UNIVERSITY   (China)

Author keywords

Coronary arterial lesions; ITPKC; Kawasaki disease; Single nucleotide polymorphism

Indexed keywords

ACETYLSALICYLIC ACID; IMMUNOGLOBULIN;

3' UNTRANSLATED REGION; ALLELE; ARTERY LESION; ARTICLE; CHILD; CONTROLLED STUDY; CORONARY ARTERY DISEASE; DISEASE CARRIER; DISEASE PREDISPOSITION; FEMALE; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; ITPKC GENE; MAJOR CLINICAL STUDY; MALE; MUCOCUTANEOUS LYMPH NODE SYNDROME; PRESCHOOL CHILD; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

ASPIRIN; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CHINA; ECHOCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; INFANT; MALE; MUCOCUTANEOUS LYMPH NODE SYNDROME; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84867859180     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-012-0223-x     Document Type: Article

References (42)

1. Research Committee on Kawasaki Disease (1984) Report of Subcommittee on Standardization of Diagnostic Criteria and Reporting of Coronary Artery Lesions in Kawasaki Disease. Ministry of Health and Welfare, Tokyo
2. Newburger JW, Takahashi M, Gerber MA et al (2004) Diagnosis, treatment, and long-term management of Kawasaki disease: a statement for health professionals from the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease, Council on Cardiovascular Disease in the Young. American Heart Association. Pediatrics 114:1708-1733
3. Kato H, Sugimura T, Akagi T et al (1996) Long-term consequences of Kawasaki disease: a 10-to 21-year follow-up study of 594 patients. Circulation 94:1379-1385
4. Kawasaki T (1967) Acute febrile mucocutaneous syndrome with lymphoid involvement with specific desquamation of the fingers and toes in children. Arerugi 16:178-222
5. Nakamura Y, Yashiro M, Uehara R et al (2010) Epidemiologic features of Kawasaki disease in Japan: results of the 2007-2008 nationwide survey. J Epidemiol 20:302-307
6. Park YW, Han JW, Hong YM et al (2011) Epidemiological features of Kawasaki disease in Korea, 2006-2008. Pediatr Int 53:36-39
7. Huang WC, Huang LM, Chang IS et al (2009) Epidemiologic features of Kawasaki disease in Taiwan, 2003-2006. Pediatrics 123:e401-e405
8. Ng YM, Sung RY, So LY et al (2005) Kawasaki disease in Hong Kong, 1994 to 2000. Hong Kong Med J 11:331-335
9. Ma XJ, Yu CY, Huang M et al (2010) Epidemiologic features of Kawasaki disease in Shanghai from 2003 through 2007. Chin Med J Engl 123:2629-2634
10. Du ZD, Zhao D, Du J et al (2007) Epidemiologic study on Kawasaki disease in Beijing from 2000 through 2004. Pediatr Infect Dis J 26:449-451
11. Piao JH, Jin LH, Lv J et al (2010) Epidemiological investigation of Kawasaki disease in Jilin province of China from 2000 to 2008. Cardiol Young 20:426-432
12. LiXH, LiXJ, LiHet al (2008) Epidemiological survey of Kawasaki disease in Sichuan province of China. J Trop Pediatr 54:133-136
13. Wang D, Hu B, Wang F et al (2000) Study on the epidemiological features of Kawasaki disease in Jiangsu. Zhonghua Liu Xing Bing Xue Za Zhi 21:94-96
14. Jiao F, Yang L, Li Y et al (2001) Epidemiologic and clinical characteristics of Kawasaki disease in Shaanxi Province, China, 1993-1997. J Trop Pediatr 47:54-56
15. Zhang T, Yanagawa H, Nakamura Y (2001) The profiles of Kawasaki disease in China. J Epidemiol 11:103-108
16. Wang CL, Wu YT, Liu CA et al (2005) Kawasaki disease: infection, immunity, and genetics. Pediatr Infect Dis J 24:998-1004
17. Fujita Y, Nakamura Y, Sakata K et al (1989) Kawasaki disease in families. Pediatrics 84:666-669
18. Uehara R, Yashiro M, Nakamura Y et al (2003) Kawasaki disease in parents and children. Acta Paediat 92:694-697
19. Dergun M, Kao A, Hauger SB et al (2005) Familial occurrence of Kawasaki syndrome in North America. Arch Pediat Adolesc Med 159:876-881
20. Onouchi Y (2009) Molecular genetics of Kawasaki disease. Pediatr Res 65(5 Pt 2):46R-54R
21. Onouchi Y, Gunji T, Burns JC et al (2008) ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet 40:35-42
22. Wu W, Misra RS, Russell JQ et al (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. Onouchi Y, Ozaki K, Buns JC et al (2010) Common variants in CASP3 confer susceptibility to Kawasaki disease. Hum Mol Genet 19:2898-2906
24. Shimizu C, Jain S, Davila S et al (2011) Transforming growth factor-beta-signaling pathway in patients with Kawasaki disease. Circ Cardiovasc Genet 4:16-25
25. Kuo HC, Onouchi Y, Hsu YW et al (2011) Polymorphisms of transforming growth factor-b-signaling pathway and Kawasaki disease in the Taiwanese population. J Hum Genet 56(12): 840-845. doi:10.1038/jhg.2011.113
26. Wallace CA, French JW, Kahn SJ et al (2000) Initial intravenous gammaglobulin treatment failure in Kawasaki disease. Pediatrics 105:e78
27. Purcell S, Cherny SS, Sham PC (2003) Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19:149-150
28. Tsai FJ, Lee YC, Chang JS et al (2011) Identification of novel susceptibility loci for Kawasaki disease in a Han Chinese population by a genome-wide association study. PLoS ONE 6:e16853
29. Kim JJ, Hong YM, Sohn S et al (2011) A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease. Hum Genet 129:487-495
30. Imboden JB, Pattison G (1987) Regulation of inositol 1,4,5-trisphosphate kinase activity after stimulation of human T cell antigen receptor. J Clin Invest 79:1538-1541
31. Dewaste V, Pouillon V, Moreau C et al (2000) Cloning and expression of a cDNA encoding human inositol 1,4,5-trisphosphate 3-kinase C. Biochem J 352:343-351
32. Harnick DJ, Jayaraman T, Ma Y et al (1995) The human type 1 inositol 1,4,5-trisphosphate receptor from T lymphocytes: structure, localization, and tyrosine phosphorylation. J Biol Chem 270:2833-2840
33. Berridge MJ, Irvine RF (1984) Inositol trisphosphate, a novel second messenger in cellular signal transduction. Nature 312: 315-321
34. Hata A, Onouchi Y (2009) Susceptibility genes for Kawasaki disease: toward implementation of personalized medicine. J Hum Genet 54:67-73
35. Chi H, Huang FY, Chen MR et al (2010) ITPKC gene SNP rs28493229 and Kawasaki disease in Taiwanese children. Hum Mol Genet 19:1147-1151
36. Lin MT, Wang JK, Yeh JI et al (2011) Clinical implication of the C allele of the ITPKC gene SNP rs28493229 in Kawasaki disease: association with disease susceptibility and BCG scar reactivation. Pediatr Infect Dis J 30:148-152
37. Kuo HC, Yang KD, Juo SH et al (2011) ITPKC single nucleotide polymorphism associated with the Kawasaki disease in a Taiwanese population. PLoS ONE 6:e17370
38. Ambros V (2001) MicroRNAs: tiny regulators with great potential. Cell 107:823-826
39. Bartel DP (2004) MicroRNAs: genomics, biogenesis, mechanism, and function. Cell 116:281-297
40. Meister G, Tuschl T (2004) Mechanisms of gene silencing by double-stranded RNA. Nature 431:343-349
41. Xiao C, Rajewsky K (2009) MicroRNA control in the immune system: basic principles. Cell 136:26-36
42. Sethupathy P, Collins FS (2008) MicroRNA target-site polymorphisms and human disease. Trends Genet 24:489-497