Determination of profitability in salivary sample swab for alfa-1-antitrypsin deficiency genetic study in patients with obstructive airway disorder

This study aim is to describe use of salivary swab test for the detection of genetic alterations related to AATD in patients with non-reversible airway obstruction. The methodology refers to a descriptive, cross-sectional study with 200 patients with airflow obstruction measured by post-bronchodilator spirometry and defined by a ratio of FEV1/FVC less than 0.7 (or LLN) and FEV1 less than 80%. Timeline was 24 months. Samples were taken with an oral sample collector (Oracollect DNA®, registered trademark of DNA Genotek) will be used for the salivary swab. This sample was genetically analyzed by DNA to identify the genetic alteration in the A1AT gene. From the 200 patients, only one patient's test was lost. The resting 199 samples, 146 (73%) had no genetic variant and in 53 (27%) genetic alterations were found. These included M/S genotype in 44 patients (22%), M/Z in 6 patients (3%), S/Z in 2 patients (1%) and one patient with Z/Z (0,5%). Based in this study, salivary swab collectors is a practical and easy way to aid in AATD diagnosis for patients being evaluated in the lung function lab.