Is PiSS Alpha-1 Antitrypsin Deficiency Associated with Disease?

Table 1

Published research on Alpha-1 antitrypsin population genetics when PiSS was reported.

Author	𝑁	PiMM	PiMS	PiSS	PiSS lung disease 𝑁 (%)	PiSZ	PiMZ	PiZZ	Other	Unknown
General population studies
Dahl et al. [7]*	9187	8182	500	12	0%	10	477	6	0	0
Horne et al. [8]	554	484	30	2	NA^†	0	21	0	7	0
Gulsvik and Fagerhol [9]	1258	1102	60	2	100%	3	55	1	35	0
Referred population studies
Brantly et al. [10]	442	194	59	16	NA	23	56	94	0	0
Webb et al. [11]	500	442	30	1	100%	0	18	0	6	3
Fagerhol and Hauge [12]	503	434	27	3	100%	2	14	3	20	0
Lochon et al. [13]	433	366	43	1	0%	1	18	1	3	0
Zorzetto et al. [14]	1399	900	297	8	NA	10	144	1	39	0
Current study
McGee et al. Alpha-1 Coded Testing Study	7660	3954	549	34	8/16^‡ (50.0%)	193	2632	238	60	N/A
Alpha-1 Foundation Research Registry	3090	0	26	5	5^§ (100%)	144	777	1577	55	506

*Included in the MM genotype is the E polymorphism which is situated in the 3’ noncoding enhancer binding region.
^†NA: Not Available. This study did not indicate whether the individuals with the PiSS genotype were diagnosed with any lung/liver disease or had the presence of any symptoms.
^‡Sixteen of 34 individuals tested were interviewed to obtain this frequency of any lung disease.
^§Registry participants identified the presence of lung disease at study entry. Three of these are included in the study cohort of this paper. Lung diseases reported in all 5 individuals with PiSS include COPD, 𝑁 = 2, Asthma, 𝑁 = 3, and Frequent pneumonia, 𝑁 = 2.