The year 2013 denoted the 50th anniversary of the discovery of a1-antitrypsin deficiency. Apart from genetic changes in cystic fibrosis, discovered in 1989, the condition was the only recognized genetic disturbance in pulmonary diseases for years. In the meantime, many studies have been undertaken, especially in the diseases of unknown causes such as sarcoidosis, but also in those of well-known infectious cause like tuberculosis. Genetic studies in tuberculosis were especially COM-plex and directed both towards host susceptibility and genetics of Mycobacterium tuberculosis with special reference to the mechanisms of drug resistance development. Apart from animal studies at the beginning of the second half of the 20th century, twins and major histocompatibility system studies, population-genetic and pedigree analysis were performed, then, biomarkers such as ABO system blood types analysis and many others. Availability of molecular techniques allowed great step forward and brought new knowledge on the genetics of pulmonary diseases, including epigenetics. The purpose of the review is to present new findings and highlight importance of current opinion on genetic factors influence in the development, course and prognosis of the most prevalent chronic non-infectious and rare pulmonary diseases.