Alpha-1-antitrypsin deficiency (AAD) is a rare inherited disorder on chromosome 14q32.1 that predisposes to liver, vascular but especially early onset, rapidly progressive lung disease. As recommended by the WHO in 1996 in Geneva, we have established an international registry in January 1999 and developed a simple database and DNA bank, now containing over 300 European patients with AAD. The proposed Action is to execute a study using genome-wide linkage and association studies in DNA samples, to find other genetic risk factors explaining why some smokers with the inherited deficiency develop lung emphysema, while others with the same smoking history don’t. Furthermore, we aim to use existing European databases on air pollution to find correlations with clinical data and/or new genetic information in a two year longitudinal study with AAD patients. Funding is requested to enable the logistics around the two proposed studies.
Funding SchemeCON - Coordination of research actions
205 02 Malmoe
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