H00079                      Disease                                
Asthma-related trait (ASRT)
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.
Immune system disease
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
hsa05310  Asthma
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
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)
Sulfur dioxide [CPD:C09306]
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]
Furred pet (cat, dog)
Dust mite
Rodent (rat, mouse)
Pollen (tree, grass, weed)
Other DBs
ICD-11: CA23
ICD-10: J45
MeSH: D001249
OMIM: 600807 607277 608584 611064 611960
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J Asthma 45:257-64 (2008)
Busse WW, Lemanske RF Jr.
N Engl J Med 344:350-62 (2001)
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Discovering susceptibility genes for asthma and allergy.
Nat Rev Immunol 8:169-82 (2008)
Ober C, Hoffjan S.
Asthma genetics 2006: the long and winding road to gene discovery.
Genes Immun 7:95-100 (2006)
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Pharmacogenetic association between ALOX5 promoter genotype and the response to anti-asthma treatment.
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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
Fine mapping and positional candidate studies identify HLA-G as an asthma susceptibility gene on chromosome 6p21.
Am J Hum Genet 76:349-57 (2005)
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
Association of Eotaxin gene family with asthma and serum total IgE.
Hum Mol Genet 12:1279-85 (2003)
Kirkbride HJ, Bolscher JG, Nazmi K, Vinall LE, Nash MW, Moss FM, Mitchell DM, Swallow DM
Genetic polymorphism of MUC7: allele frequencies and association with asthma.
Eur J Hum Genet 9:347-54 (2001)
Kruse S, Mao XQ, Heinzmann A, Blattmann S, Roberts MH, Braun S, Gao PS, Forster J, Kuehr J, Hopkin JM, Shirakawa T, Deichmann KA
The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.
Am J Hum Genet 66:1522-30 (2000)
Niimi T, Munakata M, Keck-Waggoner CL, Popescu NC, Levitt RC, Hisada M, Kimura S
A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma.
Am J Hum Genet 70:718-25 (2002)
Oguma T, Palmer LJ, Birben E, Sonna LA, Asano K, Lilly CM
Role of prostanoid DP receptor variants in susceptibility to asthma.
N Engl J Med 351:1752-63 (2004)
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
Biological and genetic interaction between tenascin C and neuropeptide S receptor 1 in allergic diseases.
Hum Mol Genet 17:1673-82 (2008)
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
IRAK-M is involved in the pathogenesis of early-onset persistent asthma.
Am J Hum Genet 80:1103-14 (2007)
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
Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function.
N Engl J Med 358:1682-91 (2008)

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