Genetics and personalized medicine in bronchial asthma

Asthma is a frequent and heterogeneous, chronic inflammatory disease of the airways in which genetic and epigenetic mechanisms play a role in disease development and can be used for a better classification of the different forms of the disease. Significantly more data are available on the influence of genetics and epigenetics on childhood asthma than on adulthood asthma. Common point mutations (polymorphisms) in genes on chromosome 17 (ORMDL3, GSDMB) and on genes of the classical immune regulatory pathways, such as IL4, -5, -13 and -33 are associated with early onset asthma. Not only variations of the DNA itself but also epigenetic changes, influenced by environmental factors, such as methylation of ZFPM1 and IL5RA contribute to the development of asthma. The genetics and epigenetics also influence the effects of certain forms of treatment. A polymorphism in FCER2 is related to poor response to inhaled corticosteroids and desensitization leads to demethylation of FOXP3, which in turn affects regulatory T cells. Genetics, epigenetics, pharmacogenetics and pharmacoepigenetics can increasingly play a role in the diagnosis and choice of treatment and contribute to the targeted and personalized application of the available treatment options.