Background - A study was undertaken to clarify whether the Pi SZ pheno
type of the protease inhibitor system predisposes to chronic obstructi
ve pulmonary disease (COPD). Methods - The prevalence of PI Z and PI S
Z deficient phenotypes was investigated in a population of 702 patient
s with COPD followed up at the Chest Unit of a tertiary hospital and i
n 15 400 newborn infants from the same geographical area. Individuals
with deficiency were detected by screening of dried blood spots on fil
ter paper using a comparative electroimmunodiffusion technique for alp
ha(1)-antitrypsin and transferrin. The serum phenotype was confirmed b
y means of isoelectrofocusing on polyacrylamide gel. Results - Of the
702 blood samples from patients with COPD, six PI Z subjects (0.85%) a
nd one PI SZ (0.14%) were detected. Of the 15 400 samples from neonate
s, the number of PI Z subjects was eight (0.052%) and that of PI SZ wa
s 24 (0.156%). The difference between the two groups was significant f
or PI Z but not for PI SZ. Conclusions - The data do not indicate an i
ncreased risk for development of COPD associated with the PI SZ phenot
ype but confirm the predisposition of PI Z individuals for the develop
ment of COPD.