Research Article
Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
| NGS SERPINA1 Genotype | Variant Significance | Participant Age | Ever- Smoker | COPD Severity Score | AAT level (uM at enrollment) | RepeatAAT level (uM) |
| ZZ | Pathogenic | 59 | Yes | 17 | 13.8 | 31.1 |
| SZ | Pathogenic | 18 | No | 2 | 12.3 | 9.3 |
| FZ | Pathogenic | 58 | No | 12 | 15 | 13 |
| ZSmunich | Likely Pathogenic | 67 | Yes | 4 | 13.6 | 11.3 |
| ZM2Obernburg | Uncertain | 34 | Yes | 3 | 15.5 | 14 |
| Z/c.922G>T (p.Ala308Ser) | Uncertain | 65 | No | 3 | 14.8 | 13 |
|
|
On augmentation therapy at the time of testing. |