TY - JOUR T1 - SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ JF - Thorax JO - Thorax DO - 10.1136/thoraxjnl-2020-215250 SP - thoraxjnl-2020-215250 AU - Alessandro N Franciosi AU - Tomás P Carroll AU - Noel G McElvaney Y1 - 2020/09/11 UR - http://thorax.bmj.com/content/early/2020/09/11/thoraxjnl-2020-215250.abstract N2 - The ZZ genotype of alpha-1 antitrypsin deficiency (AATD) is associated with COPD regardless of smoking. Heterozygous MZ-AATD is recognised as a moderate deficiency state, increasing the risk of COPD only among smokers. The risk attributable to SZ-AATD remains debated. We compared 486 AATD-registry participants, to determine whether SZ-AATD was associated with pulmonary outcomes more comparable to MZ-AATD or ZZ-AATD. We found no significant differences between MZ and SZ individuals regardless of never-smoking/ever-smoking (p>0.05 for all). ZZ-AATD was associated with lower FEV1pp than SZ, regardless of never-smoking/ever-smoking, as well as an increased OR of lung-index status and visually defined emphysema on CT (p≤0.002 for all). In our registry cohort SZ-AATD is associated with a risk of lung disease comparable to MZ, not ZZ-AATD. ER -