| H00079 | |
| H number | H00079 |
| Name | Asthma |
| Description | Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells (APC) that line the airway. Upon recognition of the antigen and activation by APC, naive T cells differentiate into TH2 cells. Activated TH2 stimulate the formation of IgE by B cells. IgE molecules bind to IgE receptors located on mast cells. The crosslinking of mast-cell-bound IgE by allergens leads to the release of biologically active mediators (histamine, leukotrienes) by means of degranulation and, so, to the immediate symptoms of allergy. Mast cells also release chemotactic factors that contribute to the recruitment of inflammatory cells, particularly eosinophils, whose proliferation and differentiation from bone marrow progenitors is promoted by IL-5. The activation of eosinophils leads to release of toxic granules and oxygen free radicals that lead to tissue damage and promote the development of chronic inflammation. |
| Category | Immune system disease DIS_PATHWAY hsa05310 Asthma |
| Network | - |
| Gene | IL4 [HSA:3565] [KO:K05430] IL4RA [HSA:3566] [KO:K05071] IL13 [HSA:3596] [KO:K05435] FCER1B [HSA:2206] [KO:K08090] TNFA [HSA:7124] [KO:K03156] ADAM33 [HSA:80332] [KO:K08616] CD14 [HSA:929] [KO:K04391] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-G [HSA:3135] [KO:K06751] ADRB2 [HSA:154] [KO:K04142] ALOX5 [HSA:240] [KO:K00461] CCL11 [HSA:6356] [KO:K16597] MUC7 [HSA:4589] [KO:K13909] PLA2G7 [HSA:7941] [KO:K01062] SCGB3A2 [HSA:117156] [KO:K25469] (ASRT1) PTGDR [HSA:5729] [KO:K04332] (ASRT2) NPSR1 [HSA:387129] [KO:K08376] (ASRT5) IRAK3 [HSA:11213] [KO:K04732] (ASRT7) CHI3L1 [HSA:1116] [KO:K17523] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Triamcinolone acetonide [DR:D00983] Dexamethasone [DR:D00292] Dexamethasone sodium phosphate [DR:D00975] Hydrocortisone [DR:D00088] Hydrocortisone sodium succinate [DR:D00978] Prednisolone [DR:D00472] Prednisolone sodium phosphate [DR:D00981] Prednisone [DR:D00473] Budesonide [DR:D00246] Beclomethasone dipropionate [DR:D00689] Methylprednisolone [DR:D00407] Methylprednisolone sodium succinate [DR:D00751] Methylprednisolone acetate [DR:D00979] Mometasone furoate [DR:D00690] Fluticasone propionate [DR:D01708] Fluticasone furoate [DR:D06315] Dupilumab [DR:D10354] Cortisone acetate [DR:D00973] Flunisolide [DR:D00324] Ciclesonide [DR:D01703] Salmeterol xinafoate and fluticasone propionate [DR:D08699] Metaproterenol sulfate [DR:D00685] Terbutaline sulfate [DR:D00688] Salmeterol xinafoate [DR:D00687] Formoterol fumarate [DR:D01373] Budesonide and formoterol fumarate dihydrate [DR:D09595] Mometasone furoate and formoterol fumarate [DR:D10295] Fluticasone furoate and vilanterol trifenatate [DR:D10501] Tiotropium bromide hydrate [DR:D01929] Theophylline [DR:D00371] Aminophylline hydrate [DR:D05429] Aminophylline dihydrate [DR:D11630] Theophylline and dextrose [DR:D10297] Zafirlukast [DR:D00411] Montelukast sodium [DR:D00529] Omalizumab [DR:D05251] Reslizumab [DR:D08985] Mepolizumab [DR:D04923] Benralizumab [DR:D09874] Tezepelumab [DR:D11771] Zileuton [DR:D00414] |
| Comment | Allergen: Furred pet (cat, dog) Dust mite Cockroach Rodent (rat, mouse) Mold Pollen (tree, grass, weed) |
| Other DBs | ICD-11: CA23 ICD-10: J45 MeSH: D001249 OMIM: 600807 607277 608584 611064 611960 |
| Reference | PMID:18446588 AUTHORS Warrier MR, Hershey GK. TITLE Asthma genetics: personalizing medicine. JOURNAL J Asthma 45:257-64 (2008) DOI:10.1080/02770900801966180 PMID:11172168 AUTHORS Busse WW, Lemanske RF Jr. TITLE Asthma. JOURNAL N Engl J Med 344:350-62 (2001) DOI:10.1056/NEJM200102013440507 PMID:18301422 AUTHORS Vercelli D. TITLE Discovering susceptibility genes for asthma and allergy. JOURNAL Nat Rev Immunol 8:169-82 (2008) DOI:10.1038/nri2257 PMID:16395390 AUTHORS Ober C, Hoffjan S. TITLE Asthma genetics 2006: the long and winding road to gene discovery. JOURNAL Genes Immun 7:95-100 (2006) DOI:10.1038/sj.gene.6364284 PMID:10369259 AUTHORS Drazen JM, Yandava CN, Dube L, Szczerback N, Hippensteel R, Pillari A, Israel E, Schork N, Silverman ES, Katz DA, Drajesk J TITLE Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment. JOURNAL Nat Genet 22:168-70 (1999) DOI:10.1038/9680 PMID:15611928 AUTHORS Nicolae D, Cox NJ, Lester LA, Schneider D, Tan Z, Billstrand C, Kuldanek S, Donfack J, Kogut P, Patel NM, Goodenbour J, Howard T, Wolf R, Koppelman GH, White SR, Parry R, Postma DS, Meyers D, Bleecker ER, Hunt JS, Solway J, Ober C TITLE Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21. JOURNAL Am J Hum Genet 76:349-57 (2005) DOI:10.1086/427763 PMID:12761043 AUTHORS Shin HD, Kim LH, Park BL, Jung JH, Kim JY, Chung IY, Kim JS, Lee JH, Chung SH, Kim YH, Park HS, Choi JH, Lee YM, Park SW, Choi BW, Hong SJ, Park CS TITLE Association of Eotaxin gene family with asthma and serum total IgE. JOURNAL Hum Mol Genet 12:1279-85 (2003) DOI:10.1093/hmg/ddg142 PMID:11378823 AUTHORS Kirkbride HJ, Bolscher JG, Nazmi K, Vinall LE, Nash MW, Moss FM, Mitchell DM, Swallow DM TITLE Genetic polymorphism of MUC7: allele frequencies and association with asthma. JOURNAL Eur J Hum Genet 9:347-54 (2001) DOI:10.1038/sj.ejhg.5200642 PMID:10733466 AUTHORS Kruse S, Mao XQ, Heinzmann A, Blattmann S, Roberts MH, Braun S, Gao PS, Forster J, Kuehr J, Hopkin JM, Shirakawa T, Deichmann KA TITLE The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma. JOURNAL Am J Hum Genet 66:1522-30 (2000) DOI:10.1086/302901 PMID:11813133 AUTHORS Niimi T, Munakata M, Keck-Waggoner CL, Popescu NC, Levitt RC, Hisada M, Kimura S TITLE A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma. JOURNAL Am J Hum Genet 70:718-25 (2002) DOI:10.1086/339272 PMID:15496624 AUTHORS Oguma T, Palmer LJ, Birben E, Sonna LA, Asano K, Lilly CM TITLE Role of prostanoid DP receptor variants in susceptibility to asthma. JOURNAL N Engl J Med 351:1752-63 (2004) DOI:10.1056/NEJMoa031785 PMID:18305139 AUTHORS Orsmark-Pietras C, Melen E, Vendelin J, Bruce S, Laitinen A, Laitinen LA, Lauener R, Riedler J, von Mutius E, Doekes G, Wickman M, van Hage M, Pershagen G, Scheynius A, Nyberg F, Kere J TITLE Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases. JOURNAL Hum Mol Genet 17:1673-82 (2008) DOI:10.1093/hmg/ddn058 PMID:17503328 AUTHORS Balaci L, Spada MC, Olla N, Sole G, Loddo L, Anedda F, Naitza S, Zuncheddu MA, Maschio A, Altea D, Uda M, Pilia S, Sanna S, Masala M, Crisponi L, Fattori M, Devoto M, Doratiotto S, Rassu S, Mereu S, Giua E, Cadeddu NG, Atzeni R, Pelosi U, Corrias A, Perra R, Torrazza PL, Pirina P, Ginesu F, Marcias S, Schintu MG, Del Giacco GS, Manconi PE, Malerba G, Bisognin A, Trabetti E, Boner A, Pescollderungg L, Pignatti PF, Schlessinger D, Cao A, Pilia G TITLE IRAK-M is involved in the pathogenesis of early-onset persistent asthma. JOURNAL Am J Hum Genet 80:1103-14 (2007) DOI:10.1086/518259 PMID:18403759 AUTHORS Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL TITLE Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. JOURNAL N Engl J Med 358:1682-91 (2008) DOI:10.1056/NEJMoa0708801 |