Genetic polymorphisms in chronic obstructive pulmonary disease

Rasa Ugenskienė, Marek Sanak¹, Raimundas Sakalauskas, Andrew Szczeklik¹

Department of Pulmonology and Immunology, Kaunas University of Medicine, Lithuania, ¹Department of Medicine, Jagiellonian University School of Medicine, Krakow, Poland

Key words: chronic obstructive lung disease, polymorphisms, genetics.

Summary. Etiology of chronic obstructive pulmonary disease remains unknown but, despite some inconsistencies in reports on inflammatory cells, mediators and proteases involved in the pathogenesis of chronic obstructive pulmonary disease, genetic risk factors were proposed as a cause of susceptibility to the disease. Results of many studies suggested polygenic inheritance, with the genetic component consisting of several genes of a small effect each, rather than of single major gene. We are going to review the clinical importance of alpha-1 antitrypsin, glutathione S-transferase, microsomal epoxide hydrolase, matrix metalloproteinase, tumor necrosis factor-a, alpha-1 antichymotrypsin, alpha 2-macroglobulin, cytochrome P4501A1, heme oxygenase-1 genes polymorphisms associated with susceptibility and progression of the chronic obstructive pulmonary disease.

Correspondence to R. Ugenskienė, Department of Pulmonology and Immunology, Kaunas University of Medicine, Eivenių 2, 50009 Kaunas, Lithuania. E-mail: ugenskiene@yahoo.com

Received 27 August 2004, accepted 3 December 2004