Thoracic Research and Practice
Original Article

Pulmonary Function and Respiratory Diseases in Different Genotypes of Alpha-1 Antitrypsin Deficiency


Department of Pulmonology, Hospital Universitario Nuestra Señora de Candelaria [Our Lady of Candelaria University Hospital], Santa Cruz de Tenerife, Canary Islands, Spain


Faculty of Health Sciences, Universidad de Las Palmas de Gran Canaria [Las Palmas de Gran Canaria University], Canary Islands, Spain


Foundation of the Canary Islands Health Research Institute (FIISC), Santa Cruz de Tenerife, Spain


Health Services Research on Chronic Patients Network (REDISSEC), Madrid, Spain


Research Network on Chronic Disease, Primary Care, and Health Promotion (RICAPPS), Madrid, Spain


Department of Biochemistry, Microbiology, Cellular Biology and Genetics, Canary Islands, Spain

Thorac Res Pract 2022; 23: 376-382
DOI: 10.5152/TurkThoracJ.2022.22001
Read: 860 Downloads: 326 Published: 01 November 2022

OBJECTIVE: Respiratory disease is the major cause of morbidity and mortality in patients with alpha-1 antitrypsin deficiency, mainly in homozygous PI*ZZ individuals. However, this association is uncertain in subjects with other deficiency genotypes. The objective of this study was to assess, in the context of alpha-1 antitrypsin deficiency, the existence of further risk factors that have been associated with respiratory diseases.

MATERIAL AND METHODS: Lung function was assessed by spirometry in a sample of 1334 patients with a known genotype for the SERPINA1 gene whose serum alpha-1 antitrypsin levels had been previously determined. Patients with a normal genotype (PI*MM) were compared to 389 patients carrying a deficiency allele.

RESULTS: Statistically significant associations were detected between (i) PI*ZZ genotype and abnormal FEV1 values (χ2 = 26.45; P < .0002), FEV1/FVC (χ2 = 14.8; P < .02) or forced mid-expiratory flow 25%-75% (χ2 =22.66; P < .0009); (ii) chronic obstructive pulmonary disease and PI*ZZ odds ratio: 26.5; 95% CI: (2.6-265.9); P < .005 and or PI*SS genotype odds ratio: 9; 95% CI: (2-40.1); P < .004; (iii) prevalence of COPD in PI*MZ subjects and smoking habit (P < .01), low body weight (P < .01) or older age (P < .0001).

CONCLUSION: The PI*ZZ and PI*SS genotypes seem to be associated with the prevalence of chronic obstructive pulmonary disease. Tobacco use, low body weight, and older age are risk factors that increase the probability of prevalence of chronic obstructive pulmonary disease by up to 70% in PI*MZ individuals.

Cite this article as: Hernández Pérez JM, Suárez Sánchez JJ, López Charry CV, Ramallo Fariña Y, Pérez Pérez JA. Pulmonary function and respiratory diseases in different genotypes of alpha-1 antitrypsin deficiency. Turk Thorac J. 2022;23(6):376-382.

EISSN 2979-9139