PT  - JOURNAL ARTICLE
AU  - Alessandro N Franciosi
AU  - Tomás P Carroll
AU  - Noel G McElvaney
TI  - SZ alpha-1 antitrypsin deficiency and pulmonary disease: more like MZ, not like ZZ
AID  - 10.1136/thoraxjnl-2020-215250
DP  - 2020 Sep 11
TA  - Thorax
PG  - thoraxjnl-2020-215250
4099  - http://thorax.bmj.com/content/early/2020/09/11/thoraxjnl-2020-215250.short
4100  - http://thorax.bmj.com/content/early/2020/09/11/thoraxjnl-2020-215250.full
AB  - 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.