In the study published in the journal, Genetic Testing and Molecular Biomarkers, researchers worked on the determination of distribution of alpha-1-antitrypsin deficiency (A1ATD) phenotypes or alleles in Serbian patients having lung diseases. Researchers told that Alpha-1-antitrypsin (A1AT) is an important inhibitor of neutrophil elastase, and its deficiency (A1ATD), which is a genetic risk factor, can result in early-onset emphysema (Topic et al., 2012). Research shows A1ATD is significantly associated with family history. Moreover, estimations showed that from 1% to 3% of patients having chronic obstructive pulmonary disease (COPD) are found to have A1ATD (Badawy, El Qarn, & Mohamadeen, 2013).
Researchers of the study also noted that the problem is relatively highly prevalent, but still it needs further studies. In the study, researchers worked on 348 patients of COPD, 71 patients of asthma, and 35 patients of bronchiectasis, whereas the control of the study included 1435 healthy people. Researchers used isoelectric focusing or polymerase chain reaction-mediated site-directed mutagenesis in order to find A1ATD variants (Topic et al., 2012).
Study shows that severe A1ATD (PiZZ homozygotes), mild A1ATD (PiMS, PiSS, PiSZ, and PiMZ heterozygotes), and Z allele carriers are related to substantially higher risk of developing COPD (Topic et al., 2012). Z deficiency allele may increase the chances of emphysema in spite of reasonable concentrations of A1AT in the plasma (Sinden, Koura, & Stockley, 2014). Moreover, according to the study, about 2.9% patients of COPD were PiZZ, and about 8.3% of patients were PiMZ. Researchers concluded that the prevalence of A1ATD in the Serbian population could be compared to the data for entire European population. On a further note, A1ATD can be of great importance in early detection of COPD (Topic et al., 2012).
References
Badawy, M. S., El Qarn, A., & Mohamadeen, H. (2013). Clinical features of alpha1 antitrypsin deficiency in COPD. Egyptian Journal of Chest Diseases and Tuberculosis, 62(1), 71-77.
Sinden, N. J., Koura, F., & Stockley, R. A. (2014). The significance of the F variant of alpha-1-antitrypsin and unique case report of a PiFF homozygote. BMC pulmonary medicine, 14(1), 1.
