Αlpha-1 Antitrypsin Gene Polymorphism in the Egyptian Population: Association with Obstructive Lung Diseases.
Given the potential adverse effects of asthma and Chronic Obstructive Pulmonary Disease, this study was undertaken to explore Alpha-1 Antitrypsin polymorphism in the Egyptian population and its role in the development and/ or progression of asthma and COPD. The identification of IL-10 as a potential modifier gene for COPD susceptibility provided insight into additional inflammatory pathways to consider in AAT deficiency.
This study was carried on 90 unrelated Egyptians; 37 asthmatics, 33 COPD patients and 20 controls. PiZ allele was found in COPD and asthma patients as well as controls. While PiS allele was never shown up in all the groups.
The prevalence of PiZ was higher in asthma and COPD than in controls. Serum AAT was significantly decreased in patients with asthma and COPD. Patients with the PiZ allele, despite having lower values of the serum AAT, this difference was not significant.
Serum AAT was significantly correlated with severity of airflow obstruction in both asthma and COPD. There was a significant elevation of serum IgE in COPD patients carrying PiZ allele. Serum IL-10 was significantly higher in asthma and COPD patients than the controls. There was a positive significant correlation between IL-10 and IgE in COPD patients.
The z allele frequency in the Egyptian population is higher among asthmatic and COPD patients, suggesting that it could in fact be an underlying hidden risk factor for the development of these diseases. Asthmatics carrying this deficient allele have a genetic predisposition for progressing to COPD. Genetic counselling of patients having obstructive airway diseases is very important for diagnosis, prognosis and treatment.
Pulm Res Respir Med Open J. 2014; 1(1): 13-20. doi: 10.17140/PRRMOJ-1-103