Frequency of the SERPINA1 genotype classes detected in 6057 subjects from the Swiss Cohort Study on Air Pollution and Lung Diseases in Adults (SAPALDIA) cohort
Genotype | PI*MM† | PI*MS | PI*SS | PI*MZ | PI*SZ | PI*ZZ | Rare variants‡ | Novel variants§ |
Number of subjects | 5398 | 453 | 10 | 143 | 10 | 1 | 34 | 8 |
Frequency (%) | 89.12 | 7.48 | 0.16 | 2.36 | 0.17 | 0.02 | 0.56 | 0.13 |
↵† The PI*MM genotype class encompasses different combinations of normal M variants (M1Ala/Val, M3, M2/M4). Details are reported in the online data supplement.
↵‡ This class includes subjects heterozygous for rare deficient variants, such as I, Plowell, Mmalton, MWurzburg etc. These data were previously analysed in more detail.11
↵§ This class includes novel putative deficient variants detected during SERPINA1 gene sequencing. These data were previously analysed in more detail.11