| Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in complete genomics
|
| (A;T)
|
2.3
|
Carrier of one PiS variant; slight chance of Alpha-1 Antitrypsin Deficiency
|
| (T;T)
|
2.5
|
a slightly reduced functionality form of Alpha-1 Antitrypsin Deficiency
|
This genotype corresponds to a carrier of one PiS variant for alpha-1-antitrypsin deficiency; individual carrying two PiS variants have 60% of normal enzymatic activity. On its own, carrying one PiS variant has little consequence, however, 3-4% of individuals carrying one PiS variant also carry one copy of the more severe PiZ variant, rs28929474(A), which is associated with an increased risk of emphysema and COPD.
