Alpha-tryptase gene variation is associated with levels of circulating IgE and lung function in asthma

Clinical and Experimental Allergy

Volumn 44, Issue 6, 2014, Pages 822-830

  Abdelmotelb, A M ^a,b   Rose Zerilli, M J ^a   Barton, S J ^a   Holgate, S T ^a   Walls, A F ^a   Holloway, J W ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b TANTA UNIVERSITY   (Egypt)

Author keywords

Asthma; Gene copy number variation; IgE; Mast cell; Tryptase

Indexed keywords

ALPHA TRYPTASE; BETA TRYPTASE; IMMUNOGLOBULIN E; METHACHOLINE; TRYPTASE; UNCLASSIFIED DRUG; ALLERGEN;

ADOLESCENT; ADULT; ARTICLE; ASTHMA; ATOPY; BRONCHUS HYPERREACTIVITY; CAUCASIAN; CHILD; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE SEVERITY; FEMALE; FORCED EXPIRATORY VOLUME; GENE DOSAGE; GENETIC ASSOCIATION; GENOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HOUSE DUST ALLERGY; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; LUNG FUNCTION; MAJOR CLINICAL STUDY; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ALLELE; ANIMAL; BLOOD; CHEMISTRY; GENE FREQUENCY; GENETIC VARIABILITY; GENETICS; IMMUNOLOGY; LUNG FUNCTION TEST; MOLECULAR GENETICS; PATHOPHYSIOLOGY; PYROGLYPHIDAE; SEQUENCE ALIGNMENT; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; ALLERGENS; ANIMALS; ASTHMA; BASE SEQUENCE; CHILD; DNA COPY NUMBER VARIATIONS; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HUMANS; IMMUNOGLOBULIN E; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; PYROGLYPHIDAE; RESPIRATORY FUNCTION TESTS; SEQUENCE ALIGNMENT; TRYPTASES; YOUNG ADULT;

EID: 84901195744     PISSN: 09547894     EISSN: 13652222     Source Type: Journal    
DOI: 10.1111/cea.12259     Document Type: Article

References (50)

1. Walls AF. The roles of neutral proteases in asthma and rhinitis. In: Busse WW, Holgate ST, eds. Asthma and rhinitis. Boston: Blackwell, 2000:968-98.
2. Cairns JA, Walls AF. Mast cell tryptase is a mitogen for epithelial cells. Stimulation of IL-8 production and intercellular adhesion molecule-1 expression. J Immunol 1996; 156:275-83.
3. Compton SJ, Cairns JA, Holgate ST, Walls AF. The role of mast cell tryptase in regulating endothelial cell proliferation, cytokine release, and adhesion molecule expression: tryptase induces expression of mRNA for IL-1 beta and IL-8 and stimulates the selective release of IL-8 from human umbilical vein endothelial cells. J Immunol 1998; 161:1939-46.
4. Compton SJ, Cairns JA, Holgate ST, Walls AF. Human mast cell tryptase stimulates the release of an IL-8-dependent neutrophil chemotactic activity from human umbilical vein endothelial cells (HUVEC). Clin Exp Immunol 2000; 121:31-6.
5. Berger P, Perng DW, Thabrew H et al. Tryptase and agonists of PAR-2 induce the proliferation of human airway smooth muscle cells. J Appl Physiol 2001; 91:1372-9.
6. He S, Gaca MD, Walls AF. A role for tryptase in the activation of human mast cells: modulation of histamine release by tryptase and inhibitors of tryptase. J Pharmacol Exp Ther 1998; 286:289-97.
7. He S, Aslam A, Gaca MD et al. Inhibitors of tryptase as mast cell-stabilizing agents in the human airways: effects of tryptase and other agonists of proteinase-activated receptor 2 on histamine release. J Pharmacol Exp Ther 2004; 309:119-26.
8. Cairns JA, Walls AF. Mast cell tryptase stimulates the synthesis of type I collagen in human lung fibroblasts. J Clin Invest 1997; 99:1313-21.
9. Berger P, Girodet PO, Begueret H et al. Tryptase-stimulated human airway smooth muscle cells induce cytokine synthesis and mast cell chemotaxis. FASEB J 2003; 17:2139-41.
10. He S, Peng Q, Walls AF. Potent induction of a neutrophil and eosinophil-rich infiltrate in vivo by human mast cell tryptase: selective enhancement of eosinophil recruitment by histamine. J Immunol 1997; 159:6216-25.
11. Clark JM, Abraham WM, Fishman CE et al. Tryptase inhibitors block allergen-induced airway and inflammatory responses in allergic sheep. Am J Respir Crit Care Med 1995; 152:2076-83.
12. Wright CD, Havill AM, Middleton SC et al. Inhibition of allergen-induced pulmonary responses by the selective tryptase inhibitor 1, 5-bis-[4-[(3-carbamimidoyl-benzenesulfonylamino)-methyl]-phenoxy]-pen tane (AMG-126737). Biochem Pharmacol 1999; 58:1989-96.
13. Oh SW, Pae CI, Lee DK et al. Tryptase inhibition blocks airway inflammation in a mouse asthma model. J Immunol 2002; 168:1992-2000.
14. Krishna MT, Chauhan A, Little L et al. Inhibition of mast cell tryptase by inhaled APC 366 attenuates allergen-induced late-phase airway obstruction in asthma. J Allergy Clin Immunol 2001; 107:1039-45.
15. Miller JS, Westin EH, Schwartz LB. Cloning and characterization of complementary DNA for human tryptase. J Clin Invest 1989; 84:1188-95.
16. Miller JS, Moxley G, Schwartz LB. Cloning and characterization of a second complementary DNA for human tryptase. J Clin Invest 1990; 86:864-70.
17. Vanderslice P, Ballinger SM, Tam EK, Goldstein SM, Craik CS, Caughey GH. Human mast cell tryptase: multiple cDNAs and genes reveal a multigene serine protease family. Proc Natl Acad Sci USA 1990; 87:3811-5.
18. Schwartz LB. Mast cells: function and contents. Curr Opin Immunol 1994; 6:91-7.
19. Pallaoro M, Fejzo MS, Shayesteh L, Blount JL, Caughey GH. Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. J Biol Chem 1999; 274:3355-62.
20. Schwartz LB, Min HK, Ren S et al. Tryptase precursors are preferentially and spontaneously released, whereas mature tryptase is retained by HMC-1 cells, Mono-Mac-6 cells, and human skin-derived mast cells. J Immunol 2003; 170:5667-73.
21. Guida M, Riedy M, Lee D, Hall J. Characterization of two highly polymorphic human tryptase loci and comparison with a newly discovered monkey tryptase ortholog. Pharmacogenetics 2000; 10:389-96.
22. Soto D, Malmsten C, Blount JL, Muilenburg DJ, Caughey GH. Genetic deficiency of human mast cell alpha-tryptase. Clin Exp Allergy 2002; 32:1000-6.
23. Wong GW, Yasuda S, Morokawa N, Li L, Stevens RL. Mouse chromosome 17A3.3 contains 13 genes that encode functional tryptic-like serine proteases with distinct tissue and cell expression patterns. J Biol Chem 2004; 279:2438-52.
24. Frazer KA, Murray SS, Schork NJ, Topol EJ. Human genetic variation and its contribution to complex traits. Nat Rev Genet 2009; 10:241-51.
25. Malling TH, Sigsgaard T, Brasch-Andersen C et al. Genetic polymorphisms in antioxidative enzymes are associated to forced expiratory volume in 1s (FEV1) in smokers independently of asthma. Clin Respir J 2012; 6:46-55.
26. Xu Y, Duanmu H, Chang Z et al. The application of gene co-expression network reconstruction based on CNVs and gene expression microarray data in breast cancer. Mol Biol Rep 2011; 39:1627-37.
27. McCarthy MI, Abecasis GR, Cardon LR et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9:356-69.
28. Rogers AJ, Chu JH, Darvishi K et al. Copy number variation prevalence in known asthma genes and their impact on asthma susceptibility. Clin Exp Allergy 2013; 43:455-62.
29. Sayers I, Barton S, Rorke S et al. Promoter polymorphism in the 5-lipoxygenase (ALOX5) and 5-lipoxygenase-activating protein (ALOX5AP) genes and asthma susceptibility in a Caucasian population. Clin Exp Allergy 2003; 33:1103-10.
30. Tulah AS, Beghe B, Barton SJ, Holloway JW, Sayers I. Leukotriene B4 receptor locus gene characterisation and association studies in asthma. BMC Med Genet 2012; 13:110.
31. Van Eerdewegh P, Little RD, Dupuis J et al. Association of the ADAM33 gene with asthma and bronchial hyper responsiveness. Nature 2002; 418:426-30.
32. Blom T, Hellman L. Characterization of a tryptase mRNA expressed in the human basophil cell line KU812. Scand J Immunol 1993; 37:203-8.
33. URI Genomics and Sequencing Center. Calculator for determining the number of copies of a template. URI Genomics and Sequencing Center, Created by Andrew Staroscik, 2004. Available at http://www.uri.edu/research/gsc/resources/cndna.html (Last accessed 5 May 2011).
34. Horvath S, Xu X, Laird NM. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 2001; 9:301-6.
35. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM. Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 2004; 26:61-9.
36. Ewens WJ, Li M, Spielman RS. A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker. PLoS Genet 2008; 4:e1000180.
37. Hao L, Sayers I, Cakebread JA et al. The cysteinyl-leukotriene type 1 receptor polymorphism 927T/C is associated with atopy severity but not with asthma. Clin Exp Allergy 2006; 36:735-41.
38. Barton SJ, Koppelman GH, Vonk JM et al. PLAUR polymorphisms are associated with asthma, PLAUR levels, and lung function decline. J Allergy Clin Immunol 2009; 123:1391-400.
39. Min HK, Moxley G, Neale MC, Schwartz LB. Effect of sex and haplotype on plasma tryptase levels in healthy adults. J Allergy Clin Immunol 2004; 114:48-51.
40. Akin C, Soto D, Brittain E et al. Tryptase haplotype in mastocytosis: relationship to disease variant and diagnostic utility of total tryptase levels. Clin Immunol 2007; 123:268-71.
41. Marquardt U, Zettl F, Huber R, Bode W, Sommerhoff C. The crystal structure of human alpha1-tryptase reveals a blocked substrate-binding region. J Mol Biol 2002; 321:491-502.
42. Rauter I, Krauth MT, Westritschnig K et al. Mast cell-derived proteases control allergic inflammation through cleavage of IgE. J Allergy Clin Immunol 2008; 121:197-202.
43. Molino M, Barnathan ES, Numerof R et al. Interactions of mast cell tryptase with thrombin receptors and PAR-2. J Biol Chem 1997; 272:4043-9.
44. Schmidlin F, Amadesi S, Dabbagh K et al. Protease-activated receptor 2 mediates eosinophil infiltration and hyperreactivity in allergic inflammation of the airway. J Immunol 2002; 169:5315-21.
45. van den Oord RA, Sheikh A. Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis. BMJ 2009; 339:b2433.
46. Iwanaga T, McEuen A, Walls AF et al. Polymorphism of the mast cell chymase gene (CMA1) promoter region: lack of association with asthma but association with serum total immunoglobulin E levels in adult atopic dermatitis. Clin Exp Allergy 2004; 34:1037-42.
47. Imada T, Komorita N, Kobayashi F et al. Therapeutic potential of a specific chymase inhibitor in atopic dermatitis. Jpn J Pharmacol 2002; 90:214-7.
48. Trivedi NN, Tamraz B, Chu C, Kwok PY, Caughey GH. Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. J Allergy Clin Immunol 2009; 124:1099-105.
49. Jackson NE, Wang HW, Bryant KJ et al. Alternate mRNA splicing in multiple human tryptase genes is predicted to regulate tetramer formation. J Biol Chem 2008; 283:34178-87.
50. De Sanctis GT, Singer JB, Jiao A et al. Quantitative trait locus mapping of airway responsiveness to chromosomes 6 and 7 in inbred mice. Am J Physiol 1999; 277:L1118-23.