Alpha- 1- Antitrypsin Gene Subtypes and the Risk of Chronic Obstructive Pulmonary Disease

Chronic obstructive pulmonary disease (COPD) is the most prevalent clinical disorder. It is generally considered to be due to an imbalance between proteolytic enzymes and their inhibitors. Deficiency of alpha 1-antitrypsin (α1-AT) is a recognized risk factor for COPD and is characterized by the progressive obstruction of airways, which is not fully reversible. Alpha-1-antityrpsin deficiency is widely under-diagnosed in many populations with majority of the individuals remaining undetected due to the delay in the onset and variability of respiratory symptoms. In 1997, WHO stated that 2-3% of all alpha-1-antitrypsin deficient individuals were homozygous for PiZ and recommended screening for α1-AT deficiency in individuals with COPD, all adults and adolescents with asthma as well as neonates, children and adults with unexplained liver disease.