Asthma is caused by the obstruction of bronchial airway arising from
inflammation and structural changes (remodeling) in the airway wall. Airway
remodeling includes: (1) airway wall thickening, (2) subepithelial fibrosis, (3)
increased myocyte muscle mass, (4) myofibroblast hyperplasia, and (5) mucus
metaplasia (review).
Asthma is often developed in childhood by interaction between
environmental agents and genes that make bronchial epithelium susceptible to
injury (reference).
Activation of Th2 cells releases IL13 and IL4, triggering
inflammation and remodeling processes (reference).
Review Articles
Associated Genes
ADAM33
Encodes a disintegrin and metalloprotease domain 33. Polymorphisms of this
gene are strongly associated with asthma, but the molecular mechanism
remains to be elucidated.
ADRB2
Encodes beta-2-adrenergic receptor. Binding of its agonist stimulates
cAMP formation, resulting in smooth muscle relaxation and
bronchodilation (more
info).
CCL11
Encodes a Cys-Cys cytokine gene that is involved in immunoregulatory
and inflammatory processes.
CYSLTR1
Encodes cysteinyl leukotriene receptor which is involved in
proliferation of smooth muscle and eosinophil migration.
FCER1A
Encodes an Fc fragment of IgE receptor, which plays a central role in
allergic disease.
HLA-DQA1,
-DQB1,
-DRB1
Encodes a subunit of major histocompatibility complex.
IL13
Encodes interleukin 13.
IL4
Encodes interleukin 4.
IL5
Encodes interleukin 5.
MADH2
Encodes SMAD2 protein which is involved in TGF-b
signaling.
MMP9
Encodes matrix metalloproteinase 9.
PHF11
Encodes a finger protein that could be involved in transcription.
SCGB1A1
Encodes Clara cell secretory protein CC16.
STAT6
Encodes STAT6 which plays the central role in mediating signals from IL4
and IL13.
TGFB1
Encodes transforming growth factor TGF-b,
which plays an important role in fibrosis (reference).
TNF
Encodes tumor necrosis factor.
Review Article:
Asthma
genetics 2003 - Human Molecular Genetics, 2004.
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