Irish Centre for Genetic Lung Disease, Royal College of Surgeons in Ireland, Dublin, Ireland.
Department of Medicine, Beaumont Hospital, Dublin, Ireland.
Thorax. 2021 Mar;76(3):298-301. doi: 10.1136/thoraxjnl-2020-215250. Epub 2020 Sep 11.
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 FEV1 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.
α-1 抗胰蛋白酶缺乏症（AATD）的 ZZ 基因型与 COPD 相关，无论是否吸烟。杂合 MZ-AATD 被认为是一种中度缺乏状态，仅在吸烟者中增加 COPD 的风险。SZ-AATD 的风险仍存在争议。我们比较了 486 名 AATD 登记参与者，以确定 SZ-AATD 是否与更类似于 MZ-AATD 或 ZZ-AATD 的肺部结局相关。我们发现无论是否从不吸烟/吸烟（所有 p>0.05），MZ 和 SZ 个体之间均无显着差异。无论从不吸烟/吸烟，与 SZ 相比，ZZ-AATD 的 FEV1 较低，并且 CT 上的肺指数状态和视觉定义的肺气肿的 OR 增加（所有 p≤0.002）。在我们的登记队列中，SZ-AATD 与 MZ-AATD 相关的肺部疾病风险相当，而不是 ZZ-AATD。
