KEGG   DISEASE: Asthma
Entry
H00079                      Disease                                
Name
Asthma
  Subgroup
Asthma-related trait (ASRT)
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
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H00079  Asthma
Human diseases in ICD-11 classification [BR:br08403]
 12 Diseases of the respiratory system
  Certain lower respiratory tract diseases
   CA23  Asthma
    H00079  Asthma
Pathway
hsa05310  Asthma
Related
pathway
hsa04640 Hematopoietic cell lineage   
hsa04658 Th1 and Th2 cell differentiation   
hsa04659 Th17 cell differentiation   
hsa04664 Fc epsilon RI signaling pathway   
hsa04060 Cytokine-cytokine receptor interaction   
hsa04657 IL-17 signaling pathway   
hsa04612  Antigen processing and presentation
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]
Env factor
Particulate matter
Diesel exhaust
NO2 (nitrogen dioxide)
Passive smoking/environmental tobacco smoke (ETS)
Ozone
Sulfur dioxide [CPD:C09306]
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
  Authors
Warrier MR, Hershey GK.
  Title
Asthma genetics: personalizing medicine.
  Journal
J Asthma 45:257-64 (2008)
DOI:10.1080/02770900801966180
Reference
  Authors
Busse WW, Lemanske RF Jr.
  Title
Asthma.
  Journal
N Engl J Med 344:350-62 (2001)
DOI:10.1056/NEJM200102013440507
Reference
  Authors
Vercelli D.
  Title
Discovering susceptibility genes for asthma and allergy.
  Journal
Nat Rev Immunol 8:169-82 (2008)
DOI:10.1038/nri2257
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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