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Research Project

Alpha-1 antitrypsin related disease risk for the Pi*SS genotype

Principal Investigator:
Teresa Martin
Hospital Beatriz Ângelo (Loures).
Loures (Portugal)
Start date:
October 2022
Contact E-mail:
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Despite Pi*S prevalence is high in southwestern European countries, there is scarce information available about the Pi*SS genotype. 

Considering that the European region has a high prevalence of carriers of the Pi*S allele and seems to concentrate the largest number of individuals with the Pi*SS genotype, we believe that this EARCO study proposal is pertinent and relevant to better understand this genotype, its prevalence, natural history, and risk for disease, when compared to Pi*SZ and Pi*ZZ genotypes.



1) Analyse the Pi*SS genotype population registered in EARCO: prevalence, demographic characteristics, occupational exposure, functional values, presence of emphysema and liver disease, and mean AAT values.

2) Compare with matched controls to determine the potential risk for lung disease in Pi*SS subjects.


Inclusion criteria

Individuals with PI*SS genotype included in EARCO

Matched controls with PI*ZZ genotype in EARCO

Brief summary

Case-control study in patients with Pi*SS genotype for the following variables: age, sex, BMI (kg/m2), smoking status, working status, age at diagnosis of AATD, index case or family screening diagnosis, chronic respiratory disease, previous pneumonia, cardiovascular disease, lung function (FVC, FEV1, FEV1/FVC, KCO), QoL (CAT, BODEx, EQ-5D, VAS), activity (in last and usual week), blood analysis (haemoglobin, white blood cells count, platelets, AAT levels, AST, ALT, GGT, CRP, fibrinogen, FIB-49), and mortality.

Identify the degree of possible risk of lung disease associated with the Pi*SS genotype for the development of the disease. Define possible factors contributing to the aggravation of that risk.