Αlpha-1 Antitrypsin Gene Polymorphism in the Egyptian Population: Association with Obstructive Lung Diseases
Journal Title: Pulmonary Research and Respiratory Medicine – Open Journal - Year 2014, Vol 1, Issue 1
Abstract
Background: Given the potential adverse effects of asthma and Chronic Obstructive Pulmonary Disease (COPD), this study was undertaken to explore Alpha-1 Antitrypsin (AAT) 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. Methods: This study was carried on 90 unrelated Egyptians; 37 asthmatics, 33 COPD patients and 20 controls. Patients were evaluated clinically and with spirometry. The frequency of AAT gene polymorphism was assessed by real-time PCR. Serum levels of AAT protein, IL-10 and IgE were estimated. Results: 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 (75.75%, 72.7% and 50% respectively). 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. Conclusion: 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.
Authors and Affiliations
Rasha Daabis
Keywords
Related Articles
- EP ID EP550131
- DOI 10.17140/PRRMOJ-1-103
- Views 134
- Downloads 0
Pulmonary Complications in Patients with Brain Injury
Critically ill patients with brain injury associated with organ dysfunction among which include pulmonary involvement as a determinant of morbidity and mortality. The aim of this paper is to review the major complication...
Primary Pleural Lymphoma with Dense Pleural Thickening
A 72-year-old man was referred to our hospital because of persistent right chest pain and an abnormal shadow on chest X-ray. Thoracic computed tomography showed a right upper pleural nodule and massive right pleural thic...
Microarray Analysis Identifies Pathways in Progression of Early Stage Lung Adenocarcinoma: The Importance of Focal Adhesion and ECM-Receptor Interactions
Recurrence after lung cancer surgery is high, even among Non-Small Cell Lung Cancer (NSCLC) adenocarcinoma patients diagnosed early as Stage I, where there has been no spread to lymph nodes. Understanding the biological...
Diaphragm Ultrasonography as a Tool To Assess the Respiratory Issues of a Patient With Amyotrophic Lateral Sclerosis (ALS)
A 73-year-old woman with Amyotrophic Lateral Sclerosis (ALS) presented at a universityaffiliated community hospital with increasing shortness of breath. She was diagnosed with ALS 2 years prior to this event, and she had...
Αlpha-1 Antitrypsin Gene Polymorphism in the Egyptian Population: Association with Obstructive Lung Diseases
Background: Given the potential adverse effects of asthma and Chronic Obstructive Pulmonary Disease (COPD), this study was undertaken to explore Alpha-1 Antitrypsin (AAT) polymorphism in the Egyptian population and its r...