Protease S and Z inhibitor genotypes in the SERPINA1 gene in patients with COPD in the Republic of Panama

Abstract

Background: Alpha-1-Antitrypsin (AAT) is a protein that inhibits protease, especially Trypsin. AAT deficiency can cause lung diseases such as early emphysema, mainly affecting the Anglo-Saxon population; this was considered to be a rare condition in Panama. This study aimed to determine the prevalence of Alpha-1-Antitrypsin Deficiency (AATD) and allele frequency, in patients with COPD. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients’ AAT levels were determined with blood samples, by nephelometry. Those with AAT levels <116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels <116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor. Methods: Cross-sectional intervention study, in patients with COPD diagnosis in Panama. All patients’ AAT levels were determined with blood samples, by nephelometry. Those with AAT levels <116 mg/dL were subjected to genotyping with the real-time PCR test (AAT-mpx RealFast), which detects the protease inhibitor (PI) *M, *S y *Z of the SERPINA1 gene simultaneously. Results: 78 patients were included, 55 (70.5%) had AAT levels <116 mg/dL. The genotype distribution for these was as follows: PI*MM in 15 (27.3%), PI*MZ in 37 (67.3%), PI*MS in 2 (3.6%), and PI*SS in 1 (1,8%). Conclusion: Our findings demonstrate that AATD frequency is low in COPD patients. However, we have a high frequency of the heterozygous PI*MZ allele, which could be a future risk factor.