Genetic predisposition to diseases of the airways and the lungs

Background. Knowledge about molecular genetic causes of diseases has been rapidly growing for years. More and more associations to genetic predisposition are known. Objective. Are there currently clinically relevant findings on the genetic predisposition to diseases of the lungs and respiratory tract? Methods. Using the example of impaired mucociliary clearance, we explain the mechanisms of a monogenic (cystic fibrosis) and a genetically heterogeneous disease (primary ciliary dyskinesia). In addition, we present a genetic risk factor for upper respiratory infections (TAS2R38 variants). The resulting clinical significance is elaborated. Results. The use of genetic methods has meanwhile become established in everyday clinical practice. In the case of the monogenic disease cystic fibrosis, a clinically suspected diagnosis can usually be confirmed by detection of the corresponding changes described. By using highly efficient molecular genetic techniques, genetically heterogeneous diseases can now also be confirmed to a high percentage. For example, for primary ciliary dyskinesia (PCD) genetics 38 genes are now known to be involved. The TAS2R38 gene encodes the bitter taste receptor T2R38. There is a widespread dysfunctional gene variant that is a genetic risk factor for impaired mucociliary clearance and a resulting chronic infection of the upper airways. Conclusion. Currently, there is still no routine determination of genetic risk factors for respiratory diseases used in clinical practice. This could change with further knowledge on TAS2R38.