Abstract
Asthma is multifactorial complex disorder originated from genetic and environmental factors. Some genetic variants or alleles have been known to be associated with the presence or development of asthma. Gene polymorphisms may be associated with declined lung function and severe exacerbations in asthma, indicating the contribution of genetic variants to the development of severe refractory asthma. Severe refractory asthma is heterogeneous disease and may be classified into various phenotypes and endotypes. Each endotype might be characterized by the presence of gene polymorphisms, which might be useful to determine an endotype. In addition, patients with severe refractory asthma have been known to respond differently to asthma medications, which may be explained by pharmacogenetics. Polymorphisms in the genes related to the pathway or receptors for drugs may determine the good or poor responses to the medication. The pharmacogenetic studies may allow patients with severe asthma to take the most effective personalized medicine, which may control severe refractory asthma well. Collectively, genetic testing for the presence of severe asthma and pharmacogenetics for asthma medications may be useful for the diagnosis and management of severe refractory asthma. (Korean J Med 2012;83:430-437)
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