Disorder "Asthma"
Found 58 records
Disorder information
Disorder name:
Asthma
Disoder ID:
Synonyms:
malignant tumor of abdomen (disorder),Exercise induced asthma,bronchial hyperreactivity,chronic obstructive asthma,chronic obstructive asthma with acute exacerbation,chronic obstructive asthma with status asthmaticus,exercise-induced asthma
Definition:
A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.?
Modifier statisitcs
Record:
58
Gene:
23
Variant:
41
Reference:
11
Effect type:
Expressivity(57)
,Penetrance(1)
Modifier effect:
Risk factor(19)
,Altered response to corticosteroid(7)
,Altered response to leukotriene modifiers(4)
,Altered response to montelukast(4)
,Altered response to zileuton and montelukast therapy(4)
,Altered response to therapy(3)
,Altered morning PEF(2)
,Altered response to asthma therapy(2)
,Altered response to b2AR agonist(2)
,Altered response to zileuton therapy(2)
,Promoting asthmatic phenotype(2)
,Altered bronchodilator response(1)
,Altered incidence(1)
,Altered plasma concentrations of montelukast(1)
,Altered response for lung function(1)
,Altered response to inhaled corticosteroid(1)
,Altered response to treatment(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ADRB3 | ADRB3:c.190T>C(p.Trp64Arg) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more |
| ADRB2 | ADRB2:c.46A>G(p.Arg16Gly) | Expressivity | Risk factor | OR=14.9; 95% CI: 1.59-140.1 | Case-control study found pediatric Arg16 homozygotes increased risk for asthma exacerbationsmore | more |
| ADRB2:c.46A>G(p.Arg16Gly) | Expressivity | Altered severity | From review article | The Arg/Arg genotype for residue 16 of the β-2AR alters responses to treatment and disease severity in patients with asthma.more | more | |
| ADRB2:c.46A>G(p.Arg16Gly) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more | |
| ADRB2:c.46A>G(p.Arg16Gly) | Expressivity | Altered response to therapy | From review article | A combination of rs1154400 with ADRB2 Arg16Gly, Gly27Glu and the carbamoyl phosphate synthetase-1 (CPS1) SNP rs2230739 gave a 70% predictive value for lack of response to therapymore | more | |
| ADRB2:p.Gln127Glu | Expressivity | Promoting asthmatic phenotype | Gene activity study | Polymorphic forms may play roles in promoting asthmatic phenotypemore | more | |
| ADRB2:c.79C>G(p.Gln27Glu) | Penetrance | Altered incidence | From review article | Glu-27 protects against agonist-promoted receptor downregulationmore | more | |
| ADRB2:c.79C>G(p.Gln27Glu) | Expressivity | Risk factor | From review article | Although βAR SNPs may not directly cause disease, they appear to be risk factors for, and modifiers of, disease and the response to stress and drugs.more | more | |
| ADRB2:c.79C>G(p.Gln27Glu) | Expressivity | Altered response to therapy | From review article | A combination of rs1154400 with ADRB2 Arg16Gly, Gly27Glu and the carbamoyl phosphate synthetase-1 (CPS1) SNP rs2230739 gave a 70% predictive value for lack of response to therapymore | more | |
| ADRB2:T164I | Expressivity | Altered response to asthma therapy | From review article | The Ile-164 polymorphism, which is relatively uncommon, results in a substantial decrease in agonist binding affinity and coupling to adenylate cyclase.more | more |