Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling

Journal of Clinical Investigation

Volumn 123, Issue 10, 2013, Pages 4208-4218

  Ho, Jennifer E ^a,b   Chen, Wei Yu ^c   Chen, Ming Huei ^a,d   Larson, Martin G ^a,e   McCabe, Elizabeth L ^a   Cheng, Susan ^a,c   Ghorbani, Anahita ^f   Coglianese, Erin ^g   Emilsson, Valur ^h   Johnson, Andrew D ^a   Walter, Stefan ^i,j,k   Franceschini, Nora ^l   O'Donnell, Christopher J ^a,f   Dehghan, Abbas ^k   Lu, Chen ^e   Levy, Daniel ^a   Newton Cheh, Christopher ^a,f,m   Lin, Honghuang ^a,b   Felix, Janine F ^k   Schreiter, Eric R ^n,o   Vasan, Ramachandran S ^a,b   Januzzi, James L ^f   Lee, Richard T ^c   Wang, Thomas J ^a,f,p   more..

^a BOSTON UNIVERSITY   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d School of Medicine   (United States)

^e Loyola University Health System ^*  (United States)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g LOYOLA UNIVERSITY HEALTH SYSTEM   (United States)

^h ICELANDIC HEART ASSOCIATION   (Iceland)

ⁱ HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^j MASSACHUSETTS DEPARTMENT OF PUBLIC HEALTH   (United States)

^k ERASMUS MEDICAL CENTER   (Netherlands)

^l IL   (United States)

^m BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁿ UNIVERSITY OF PUERTO RICO   (Puerto Rico)

^o HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^p VANDERBILT UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN; INTERLEUKIN 33; PROTEIN; ST2 PROTEIN; UNCLASSIFIED DRUG; CELL SURFACE RECEPTOR; IL1RL1 PROTEIN, HUMAN; IL33 PROTEIN, HUMAN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INTERLEUKIN DERIVATIVE; MAL PROTEIN, HUMAN; MYD88 PROTEIN, HUMAN; MYELIN AND LYMPHOCYTE PROTEIN; MYELOID DIFFERENTIATION FACTOR 88; TRANSCRIPTION FACTOR AP 1;

ADULT; ARTICLE; CARDIOVASCULAR RISK; CELL CULTURE; ENVIRONMENTAL FACTOR; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNE RESPONSE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; AMINO ACID SUBSTITUTION; CHEMICAL STRUCTURE; CHEMISTRY; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENETICS; HEK293 CELL LINE; METABOLISM; MIDDLE AGED; PROMOTER REGION; PROSPECTIVE STUDY; PROTEIN TERTIARY STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; FEMALE; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; INTERLEUKINS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MYELIN AND LYMPHOCYTE-ASSOCIATED PROTEOLIPID PROTEINS; MYELOID DIFFERENTIATION FACTOR 88; NF-KAPPA B; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROSPECTIVE STUDIES; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CELL SURFACE; SIGNAL TRANSDUCTION; TRANSCRIPTION FACTOR AP-1;

EID: 84885024275     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI67119     Document Type: Article

References (53)

1. Iwahana H, et al. Different promoter usage and multiple transcription initiation sites of the interleukin-1 receptor-related human ST2 gene in UT-7 and TM12 cells. Eur J Biochem. 1999;264(2):397-406.
2. Miller AM. Role of IL-33 in inflammation and disease. J Inflamm (Lond). 2011;8(1):22.
3. Oboki K, et al. IL-33 is a crucial amplifier of innate rather than acquired immunity. Proc Natl Acad Sci U S A. 2010;107(43):18581-18586.
4. Arend WP, Palmer G, Gabay C. IL-1, IL-18, and IL-33 families of cytokines. Immunol Rev. 2008;223:20-38.
5. Kurowska-Stolarska M, et al. IL-33 induces antigen-specific IL-5+ T cells and promotes allergic-induced airway inflammation independent of IL-4. J Immunol. 2008;181(7):4780-4790.
6. Pastorelli L, et al. Epithelial-derived IL-33 and its receptor ST2 are dysregulated in ulcerative colitis and in experimental Th1/Th2 driven enteritis. Proc Natl Acad Sci U S A. 2010;107(17):8017-8022.
7. Xu D, et al. IL-33 ex acerbates antigen-induced arthritis by activating mast cells. Proc Natl Acad Sci U S A. 2008;105(31):10913-10918.
8. Weinberg EO, et al. Expression and regulation of ST2, an interleukin-1 receptor family member, in cardiomyocytes and myocardial infarction. Circulation. 2002;106(23):2961-2966.
9. Sanada S, Hakuno D, Higgins LJ, Schreiter ER, McKenzie ANJ, Lee RT. IL-33 and ST2 comprise a critical biomechanically induced and cardioprotective signaling system. J Clin Invest. 2007;117(6):1538-1549.
10. Seki K, et al. Interleukin-33 prevents apoptosis and improves survival after experimental myocardial infarction through ST2 signaling. Circ Heart Fail. 2009;2(6):684-691.
11. Weinberg EO, Shimpo M, Hurwitz S, Rouleau J-L, Lee RT. Identification of serum soluble ST2 receptor as a novel heart failure biomarker. Circulation. 2003;107(5):721-726.
12. Boisot S, et al. Serial sampling of ST2 predicts 90-day mortality following destabilized heart failure. J Card Fail. 2008;14(9):732-738.
13. Ky B, et al. High-sensitivity ST2 for prediction of adverse outcomes in chronic heart failure. Circ Heart Fail. 2011;4(2):180-187.
14. Mueller T, Dieplinger B, Gegenhuber A, Poelz W, Pacher R, Haltmayer M. Increased plasma concentrations of soluble ST2 are predictive for 1-year mortality in patients with acute destabilized heart failure. Clin Chem. 2008;54(4):752-756.
15. Manzano-Fernández S, Mueller T, Pascual-Figal D, Truong QA, Januzzi JL. Usefulness of soluble concentrations of interleukin family member ST2 as predictor of mortality in patients with acutely decompensated heart failure relative to left ventricular ejection fraction. Am J Cardiol. 2011;107(2):259-267.
16. Shah RV, Chen-Tournoux AA, Picard MH, van Kimmenade RRJ, Januzzi JL. Serum levels of the interleukin-1 receptor family member ST2, cardiac structure and function, and long-term mortality in patients with acute dyspnea. Circ Heart Fail. 2009;2(4):311-319.
17. Shimpo M, et al. Serum levels of the interleukin-1 receptor family member ST2 predict mortality and clinical outcome in acute myocardial infarction. Circulation. 2004;109(18):2186-2190.
18. Sabatine MS, et al. Complementary roles for biomarkers of biomechanical strain ST2 and N-terminal prohormone B-type natriuretic peptide in patients with ST-elevation myocardial infarction. Circulation. 2008;117(15):1936-1944.
19. Wang TJ, et al. Prognostic utility of novel biomarkers of cardiovascular stress: the Framingham Heart Study. Circulation. 2012;126(13):1596-1604.
20. Akhabir L, Sandford A. Genetics of interleukin 1 receptor-like 1 in immune and inflammatory diseases. Curr Genomics. 2010;11(8):591-606.
21. Coglianese EE, et al. Distribution and clinical correlates of the interleukin receptor family member soluble ST2 in the Framingham Heart Study. Clin Chem. 2012;58(12):1673-1681.
22. Walter S, et al. A genome-wide association study of aging. Neurobiol Aging. 2011;32(11):2109. e15-e28.
23. Schunkert H, et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet. 2011;43(4):333-338.
24. Liefeld T, Reich M, Gould J, Zhang P, Tamayo P, Mesirov JP. GeneCruiser: a web service for the annotation of microarray data. Bioinformatics. 2005;21(18):3681-3682.
25. Moffatt MF, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med. 2010;363(13):1211-1221.
26. Slack JL, et al. Identification of two major sites in the type I interleukin-1 receptor cytoplasmic region responsible for coupling to pro-inflammatory signaling pathways. J Biol Chem. 2000;275(7):4670-4678.
27. Weinberg EO, et al. Expression and regulation of ST2, an interleukin-1 receptor family member, in cardiomyocytes and myocardial infarction. Circulation. 2002;106(23):2961-2966.
28. Tare N, et al. KU812 cells provide a novel in vitro model of the human IL-33/ST2L axis: functional responses and identification of signaling pathways. Exp Cell Res. 2010;316(15):2527-2537.
29. Schmitz J, et al. IL-33, an interleukin-1-like cytokine that signals via the IL-1 receptor-related protein ST2 and induces T helper type 2-associated cytokines. Immunity. 2005;23(5):479-490.
30. Turnquist HR, et al. IL-1beta-driven ST2L expression promotes maturation resistance in rapamycin-conditioned dendritic cells. J Immunol. 2008;181(1):62-72.
31. Choi YS, et al. Interleukin-33 induces angiogenesis and vascular permeability through ST2/TRAF6-mediated endothelial nitric oxide production. Blood. 2009;114(14):3117-3126.
32. Drube S, et al. The receptor tyrosine kinase c-Kit controls IL-33 receptor signaling in mast cells. Blood. 2010;115(19):3899-3906.
33. Januzzi JL, et al. Measurement of the interleukin family member ST2 in patients with acute dyspnea: results from the PRIDE (Pro-Brain Natriuretic Peptide Investigation of Dyspnea in the Emergency Department) study. J Am Coll Cardiol. 2007;50(7):607-613.
34. Pascual-Figal DA, et al. Soluble ST2, high-sensitivity troponin T- and N-terminal pro-B-type natriuretic peptide: complementary role for risk stratification in acutely decompensated heart failure. Eur J Heart Fail. 2011;13(7):718-725.
35. Gudbjartsson DF, et al. Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet. 2009;41(3):342-347.
36. Hunt KA, et al. Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet. 2008;40(4):395-402.
37. Smyth DJ, et al. Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med. 2008;359(26):2767-2777.
38. Benagiano M, et al. T helper type 1 lymphocytes drive inflammation in human atherosclerotic lesions. Proc Natl Acad Sci USA. 2003;100(11):6658-6663.
39. Newton-Cheh C, et al. Association of common variants in NPPA and NPPB with circulating natriuretic peptides and blood pressure. Nat Genet. 2009;41(3):348-353.
40. Mildner M, et al. Primary sources and immunological prerequisites for sST2 secretion in humans. Cardiovasc Res. 2010;87(4):769-777.
41. Basith S, Manavalan B, Govindaraj RG, Choi S. In silico approach to inhibition of signaling pathways of Toll-like receptors 2 and 4 by ST2L. PLoS One. 2011;6(8):e23989.
42. Laird MH, et al. TLR4/MyD88/PI3K interactions regulate TLR4 signaling. J Leukoc Biol. 2009;85(6):966-977.
43. Lipsky BP, Toy DY, Swart DA, Smithgall MD, Smith DE. Deletion of the ST2 proximal promoter disrupts fibroblast-specific expression but does not reduce the amount of soluble ST2 in circulation. Eur J Immunol. 2012;42(7):1863-1869.
44. Zhao J, et al. Lysophosphatidic acid increases soluble ST2 expression in mouse lung and human bronchial epithelial cells. Cell Signal. 2012;24(1):77-85.
45. Kannel WB, Feinleib M, McNamara PM, Garrison RJ, Castelli WP. An investigation of coronary heart disease in families. The Framingham offspring study. Am J Epidemiol. 1979;110(3):281-290.
46. Dieplinger B, et al. Analytical and clinical evaluation of a novel high-sensitivity assay for measurement of soluble ST2 in human plasma - the Presage ST2 assay. Clin Chim Acta. 2009;409(1-2):33-40.
47. Wellcome Trust Case-Control Consortium. CHI-AMO. Genetic Analysis Software Web site. https://mathgen. stats.ox.ac.uk/genetics-software/chiamo/ chiamo.html. Accessed July 22, 2013.
48. Li Y, Willer C, Sanna S, and Abecasis GR. Genotype imputation. Annu Rev Genomics Hum Genet. 2009;10:387-406.
49. Schwede T, Kopp J, Guex N, Peitsch MC. SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res. 2003;31(13):3381-3385.
50. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62(5):1198-1211.
51. Rehman SU, Mueller T, Januzzi JL. Characteristics of the novel interleukin family biomarker ST2 in patients with acute heart failure. J Am Coll Cardiol. 2008;52(18):1458-1465.
52. Chen MH, Yang Q. GWAF: an R package for genome-wide association analyses with family data. Bioinformatics. 2010;26(4):580-581.
53. http://cran. r-project.org/src/contrib/Archive/kinship/. Accessed on August 20, 2013.