Pi*S and Pi*Z alpha 1 antitrypsin polymorphism and the risk for asbestosis in occupational exposure to asbestos.
Alpha 1 antitrypsin is a highly polymorphic anti-elastase enzyme, especially active in the protection of alveoli and liver. Here we studied the distribution of two deficient alleles Pi*Z and Pi* S, in 194 asbestos workers, of whom 100 were asbestosis cases, and 94 were controls without disease (exposed controls, EC). A second group of controls without asbestos exposure (non-exposed controls, NEC; n=122) was also included. Multivariate analysis adjusted by age and smoking habit showed ninefold risk for asbestosis in Pi*Z heterozygous individuals and 5.9-fold risk for Pi*S homozygous although differences were only significant in the first case (cases vs. EC: OR 8.9; p=0.04). Considering both genotypes (Pi*Z heterozygous, Pi*S homozygous) we obtained an OR of 8 (p=0.01). Our results suggest that the alpha 1 antitrypsin polymorphisms, especially Pi*Z, could help to predict asbestosis risk and confirm the high prevalence of the Pi*S allele in Spain.
D000328:Adult; D000483:Alleles; D000704:Analysis of Variance; D001194:Asbestos / Q000633:toxicity*; D001195:Asbestosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D004247:DNA / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D007527:Isoenzymes / Q000235:genetics*; D008168:Lung / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D016273:Occupational Exposure / Q000009:adverse effects*; D010196:Pancreatic Elastase / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics; D012129:Respiratory Function Tests; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018570:Risk Assessment; D012907:Smoking / Q000378:metabolism; D013030:Spain / Q000453:epidemiology; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D007527:Isoenzymes; D000515:alpha 1-Antitrypsin; D001194:Asbestos; D004247:DNA; D010196:Pancreatic Elastase