[Genetic polymorphism and asthma].
Several mutations have been found in genes encoding for proteins implied in the pathophysiology or the treatment of asthma. Until now, no causal role could not be highlighted. The mutations were mainly studied on gene coding for the beta 2 adrenergic receptor being able to be associated with modifications of the phenotype of asthma or even to modifications of response to some beta 2 agonists. Certain polymorphisms of the beta 2 adrenoceptor are associated with polymorphisms in genes coding for peptides controlling the expression of the beta 2 adrenoceptors. The interpretation of the effects observed must take into account this linkage disequilibrium.
Molimard
M
M
Département de Pharmacologie, CHU Pellegrin-Carreire, Bordeaux. Mathieu.Molimard@pharmaco.u-bordeaux2.fr
Marthan
R
R
D000318:Adrenergic beta-Agonists / Q000494:pharmacology; D001249:Asthma / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary; D011943:Receptors, Adrenergic, beta / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D013329:Structure-Activity Relationship
D000318:Adrenergic beta-Agonists; D011943:Receptors, Adrenergic, beta