Researchers discovered that the PiZ variant in alpha-1 antitrypsin deficiency (AATD) is significantly higher in patients with bronchiectasis compared to the general population, according to a study published in Archivo de Bronconeumologia. 

Studies indicate that AATD is a potentially treatable cause of bronchiectasis. In terms of genetic prevalence, the PiZ variant is the most common in Europe. Nevertheless, the epidemiology of SERPINA1 variants in patients with bronchiectasis residing in Southern Europe has not been fully elucidated. 

The authors of this study hence sought to evaluate the frequency of the 2 most common variants in AATD—PiZ and PiS —in a cohort of patients with bronchiectasis who received treatment in Italy.


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From March 2017 to July 2019, the research team conducted an observational, cross-sectional study and enrolled patients with bronchiectasis confirmed clinically or radiologically. They excluded patients who had existing pathologies that can cause pulmonary fibrosis, as well as patients who had chronic obstructive pulmonary disease. 

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All selected participants were European adults aged 18 or more years. Both selected participants and the control group underwent genetic screening for SERPINA1 genes. The researchers were able to directly genotype the PiZ variant, while inputting the PiS variant. The PiZ and PiS variants were tested on the risk they pose to the development of bronchiectasis via a logistic regression model. 

This study enrolled 285 patients with bronchiectasis and 2848 healthy controls. The study team discovered the PiZ variant had a significantly higher frequency in patients with bronchiectasis compared to the control. However, there was no significant difference between the groups in the PiS variant. The prevalence of the PiZ variant among participants in this study was 1.58%. 

“These data are consistent with the hypothesis that carriage of some SERPINA1 variants increase the risk of bronchiectasis and may identify a subset of severe patients where substitutive therapy can prevent disease progression,” the study’s authors wrote. 

Reference

Annunziata A, Ferrarotti I, Coppola A, et al. Alpha-1 antitrypsin screening in a selected cohort of patients affected by chronic pulmonary diseases in Naples, ItalyJ Clin Med. 2021;10(8):1546. doi:10.3390/jcm10081546