Table 1

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

GenotypePI*MMPI*MSPI*SSPI*MZPI*SZPI*ZZRare variantsNovel variants§
Number of subjects539845310143101348
Frequency (%)89.127.480.162.360.170.020.560.13
  • 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