Transforming growth factor-β signaling pathway in patients with Kawasaki disease

Circulation: Cardiovascular Genetics

Volumn 4, Issue 1, 2011, Pages 16-25

  Shimizu, Chisato ^a   Jain, Sonia ^a   Hibberd, Martin L ⁿ   Lin, Kevin O ^a   Molkara, Delaram ^a   Frazer, Jeffrey R ^a,b   Sun, Shelly ^a   Baker, Annette L ⁿ   Newburger, Jane W ^c   Rowley, Anne H ^d   Shulman, Stanford T ^d   Davila, Sonia ^e   Burgner, David ^f,g   Breunis, Willemijn B ^h   Kuijpers, Taco W ^h   Wright, Victoria J ⁱ   Levin, Michael ^e,i   Eleftherohorinou, Hariklia ^i,j   Coin, Lachlan ^i,j   Popper, Stephen J ^k   Relman, David A ^k,l   Fury, Wen ^m   Lin, Calvin ^m   Mellis, Scott ^m   Tremoulet, Adriana H ^a   Burns, Jane C ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e GENOME INSTITUTE OF SINGAPORE   (Singapore)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h EMMA CHILDREN S HOSPITAL   (Netherlands)

ⁱ Division of Medicine   (United Kingdom)

^j IMPERIAL COLLEGE LONDON   (United Kingdom)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l VA PALO ALTO HEALTH CARE SYSTEM   (United States)

^m REGENERON PHARMACEUTICALS INC   (United States)

ⁿ NONE

more..

Author keywords

Aortic root dilatation; Coronary artery aneurysm; Genetics; Kawasaki disease; TGF pathway

Indexed keywords

IMMUNOGLOBULIN; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA2;

ARTERY DILATATION; ARTICLE; AUSTRALIA; CONTROLLED STUDY; CORONARY ARTERY ANEURYSM; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MUCOCUTANEOUS LYMPH NODE SYNDROME; NETHERLANDS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; UNITED STATES;

AORTA; AUSTRALIA; COHORT STUDIES; CORONARY VESSELS; GENETIC PREDISPOSITION TO DISEASE; GREAT BRITAIN; HAPLOTYPES; HUMANS; IMMUNOGLOBULINS, INTRAVENOUS; LINKAGE DISEQUILIBRIUM; MUCOCUTANEOUS LYMPH NODE SYNDROME; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; RNA, MESSENGER; SIGNAL TRANSDUCTION; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA2; UNITED STATES;

EID: 79952797423     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.940858     Document Type: Article

References (43)

1. Gordon JB, Kahn AM, Burns JC. When children with Kawasaki disease grow up myocardial and vascular complications in adulthood. J Am Coll Cardiol. 2009;54:1911-1920.
2. Ravekes WJ, Colan SD, Gauvreau K, Baker AL, Sundel RP, van der Velde ME, Fulton DR, Newburger JW. Aortic root dilation in Kawasaki disease. Am J Cardiol. 2001;87:919-922. (Pubitemid 32244219)
3. Newburger JW, Takahashi M, Burns JC, Beiser AS, Chung KJ, Duffy CE, Glode MP, Mason WH, Reddy V, Sanders SP, Shulman ST, Wiggins JW, Hicks RV, Fulton DR, Lewis AB, Leung DY, Colton T, Rosen FS, Melish ME. The treatment of Kawasaki syndrome with intravenous gamma globulin. N Engl J Med. 1986;315:341-347. (Pubitemid 16060087)
4. de Zorzi A, Colan SD, Gauvreau K, Baker AL, Sundel RP, Newburger JW. Coronary artery dimensions may be misclassified as normal in Kawasaki disease. J Pediatr. 1998;133:254-258. (Pubitemid 28385204)
5. McCrindle BW, Li JS, Minich LL, Colan SD, Atz AM, Takahashi M, Vetter VL, Gersony WM, Mitchell PD, Newburger JW. Coronary artery involvement in children with Kawasaki disease: risk factors from analysis of serial normalized measurements. Circulation. 2007;116:174-179. (Pubitemid 47057523)
6. Amano S, Hazama F, Hamashima Y. Pathology of Kawasaki disease, II: distribution and incidence of the vascular lesions. Jpn Circ J. 1979;43: 741-748. (Pubitemid 10137028)
7. Amano S, Hazama F, Hamashima Y. Pathology of Kawasaki disease, I: Pathology and morphogenesis of the vascular changes. Jpn Circ J. 1979; 43:633-643. (Pubitemid 10173088)
8. Rowley AH, Baker SC, Orenstein JM, Shulman ST. Searching for the cause of Kawasaki disease: cytoplasmic inclusion bodies provide new insight. Nat Rev Microbiol. 2008;6:394-401. (Pubitemid 351552660)
9. Burgner D, Davila S, Breunis WB, Ng SB, Li Y, Bonnard C, Ling L, Wright VJ, Thalamuthu A, Odam M, Shimizu C, Burns JC, Levin M, Kuijpers TW, Hibberd ML. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. PLoS Genet. 2009;5:e1000319.
10. Burns JC, Shimizu C, Gonzalez E, Kulkarni H, Patel S, Shike H, Sundel RS, Newburger JW, Ahuja SK. Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease. J Infect Dis. 2005;192:344-349. (Pubitemid 40993406)
11. Burns JC, Shimizu C, Shike H, Newburger JW, Sundel RP, Baker AL, Matsubara T, Ishikawa Y, Brophy VA, Cheng S, Grow MA, Steiner LL, Kono N, Cantor RM. Family-based association analysis implicates IL-4 in susceptibility to Kawasaki disease. Gene Immunol. 2005;6:438-444. (Pubitemid 43090520)
12. Onouchi Y, Gunji T, Burns JC, Shimizu C, Newburger JW, Yashiro M, Nakamura Y, Yanagawa H, Wakui K, Fukushima Y, Kishi F, Hamamoto K, Terai M, Sato Y, Ouchi K, Saji T, Nariai A, Kaburagi Y, Yoshikawa T, Suzuki K, Tanaka T, Nagai T, Cho H, Fujino A, Sekine A, Nakamichi R, Tsunoda T, Kawasaki T, Hata A. ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. Nat Genet. 2008;40:35-42.
13. Brown TJ, Crawford SE, Cornwall ML, Garcia F, Shulman ST, Rowley AH. CD8 T lymphocytes and macrophages infiltrate coronary artery aneurysms in acute Kawasaki disease. J Infect Dis. 2001;184:940-943. (Pubitemid 32881104)
14. Franco A, Shimizu C, Tremoulet AH, Burns JC. Memory T-cells and characterization of peripheral T-cell clones in acute Kawasaki disease. Autoimmunity. 2010;43:317-324.
15. Ruiz-Ortega M, Rodriguez-Vita J, Sanchez-Lopez E, Carvajal G, Egido J. TGF-beta signaling in vascular fibrosis. Cardiovasc Res. 2007;74: 196-206.
16. Clark-Greuel JN, Connolly JM, Sorichillo E, Narula NR, Rapoport HS, Mohler ER III, Gorman JH III, Gorman RC, Levy RJ. Transforming growth factor-beta1 mechanisms in aortic valve calcification: increased alkaline phosphatase and related events. Ann Thorac Surg. 2007;83:946-953. (Pubitemid 46328821)
17. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet. 2005; 37:275-281. (Pubitemid 41716254)
18. Neptune ER, Frischmeyer PA, Arking DE, Myers L, Bunton TE, Gayraud B, Ramirez F, Sakai LY, Dietz HC. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003;33: 407-411. (Pubitemid 36278859)
19. Steinberg MH. Genetic etiologies for phenotypic diversity in sickle cell anemia. Sci World J. 2009;9:46-67.
20. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH. Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Nat Genet. 2005;37:435-440.
21. Popper SJ, Shimizu C, Shike H, Kanegaye JT, Newburger JW, Sundel RP, Brown PO, Burns JC, Relman DA. Gene-expression patterns reveal underlying biological processes in Kawasaki disease. Genome Biol. 2007; 8:R261.
22. Kamiya T, Kawasaki T, Okuni M, Katoh H, Babak, Nakano H. Diagnostic criteria of cardiovascular lesions in Kawasaki disease. Report of subcommittee on standardization of diagnostic criteria and reporting of coronary artery lesions in Kawasaki disease. Research Committee on Kawasaki Disease Ministry of Health and Welfare. Tokyo, Japan: Japanese Ministry of Health and Welfare; 1984:1-10
23. Fury W, Tremoulet AH, Watson VE, Best BM, Shimizu C, Hamilton J, Kanegaye JT, Wei Y, Kao C, Mellis S, Lin C, Burns JC. Transcript abundance patterns in Kawasaki disease patients with intravenous immunoglobulin resistance. Hum Immunol. 2010;71:865-873.
24. Eleftherohorinou H, Wright V, Hoggart C, Hartikainen AL, Jarvelin MR, Balding D, Coin L, Levin M. Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases. PLoS One. 2009;4:e8068.
25. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575. (Pubitemid 47330214)
26. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265. (Pubitemid 40202029)
27. Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, Li K, Axelrod N, Busam DA, Strausberg RL, Venter JC. Genetic variation in an individual human exome. PLoS Genet. 2008;4:e1000160.
28. Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet. 2009;10:241-251.
29. Camenisch TD, Molin DG, Person A, Runyan RB, Gittenberger-de Groot AC, McDonald JA, Klewer SE. Temporal and distinct TGFbeta ligand requirements during mouse and avian endocardial cushion morphogenesis. Dev Biol. 2002;248:170-181.
30. Bartram U, Molin DG, Wisse LJ, Mohamad A, Sanford LP, Doetschman T, Speer CP, Poelmann RE, Gittenberger-de Groot AC. Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGF-beta(2)-knockout mice. Circulation. 2001;103:2745-2752. (Pubitemid 32538792)
31. Sanford LP, Ormsby I, Gittenberger-de Groot AC, Sariola H, Friedman R, Boivin GP, Cardell EL, Doetschman T. TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes. Development. 1997;124:2659-2670. (Pubitemid 27341765)
32. Azhar M, Schultz Jel J, Grupp I, Dorn GW II, Meneton P, Molin DG, Gittenberger-de Groot AC, Doetschman T. Transforming growth factor beta in cardiovascular development and function. Cytokine Growth Factor Rev. 2003;14:391-407. (Pubitemid 37099453)
33. Huang HP, Lai YC, Tsai IJ, Chen SY, Cheng CH, Tsau YK. Nephromegaly in children with Kawasaki disease: new supporting evidence for diagnosis and its possible mechanism. Pediatr Res. 2008;63:207-210.
34. Kimura J, Takada H, Nomura A, Ohno T, Mizuno Y, Saito M, Kusuhara K, Hara T. Th1 and Th2 cytokine production is suppressed at the level of transcriptional regulation in Kawasaki disease. Clin Exp Immunol. 2004; 137:444-449. (Pubitemid 39013094)
35. Matsubara T, Umezawa Y, Tsuru S, Motohashi T, Yabuta K, Furukawa S. Decrease in the concentrations of transforming growth factor-beta 1 in the sera of patients with Kawasaki disease. Scand J Rheumatol. 1997;26: 314-317. (Pubitemid 27390763)
36. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006;355:788-798. (Pubitemid 44285584)
37. Baas AF, Medic J, van 't Slot R, de Kovel CG, Zhernakova A, Geelkerken RH, Kranendonk SE, van Sterkenburg SM, Grobbee DE, Boll AP, Wijmenga C, Blankensteijn JD, Ruigrok YM. Association of the TGF-beta receptor genes with abdominal aortic aneurysm. Eur J Hum Genet. 2010;18:240-244.
38. Suzuki A, Miyagawa-Tomita S, Komatsu K, Nakazawa M, Fukaya T, Baba K, Yutani C. Immunohistochemical study of apparently intact coronary artery in a child after Kawasaki disease. Pediatr Int. 2004;46: 590-596. (Pubitemid 39423208)
39. Suzuki A, Miyagawa-Tomita S, Komatsu K, Nishikawa T, Sakomura Y, Horie T, Nakazawa M. Active remodeling of the coronary arterial lesions in the late phase of Kawasaki disease: immunohistochemical study. Circulation. 2000;101:2935-2941. (Pubitemid 30415884)
40. Tone Y, Furuuchi K, Kojima Y, Tykocinski ML, Greene MI, Tone M. Smad3 and NFAT cooperate to induce Foxp3 expression through its enhancer. Nat Immunol. 2008;9:194-202.
41. Cheng X, Yu X, Ding YJ, Fu QQ, Xie JJ, Tang TT, Yao R, Chen Y, Liao YH. The Th17/Treg imbalance in patients with acute coronary syndrome. Clin Immunol. 2008;127:89-97.
42. Bujak M, Ren G, Kweon HJ, Dobaczewski M, Reddy A, Taffet G, Wang XF, Frangogiannis NG. Essential role of Smad3 in infarct healing and in the pathogenesis of cardiac remodeling. Circulation. 2007;116: 2127-2138. (Pubitemid 350060350)
43. Burk U, Schubert J, Wellner U, Schmalhofer O, Vincan E, Spaderna S, Brabletz T. A reciprocal repression between ZEB1 and members of the miR-200 family promotes EMT and invasion in cancer cells. EMBO Rep. 2008;9:582-589. (Pubitemid 351772923)