Is the PiF allele of alpha 1-antitrypsin associated with pulmonary disease?
Pulmonary function was studied in thirteen individuals heterozygous for the alpha 1-antitrypsin allele PiF. Respiratory symptoms were present in seven out of twelve individuals with the FM phenotype, of which five had pulmonary function impairment, mostly of the obstructive type. One patient with the phenotype FZ had bronchitic symptoms and a mild obstructive spirometry pattern. The results suggest a relationship between the PiF allele and chronic obstructive pulmonary disease, which is independent of the serum alpha 1-AT level.
D000328:Adult; D000368:Aged; D000483:Alleles; D004198:Disease Susceptibility; D004781:Environmental Exposure; D005260:Female; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012120:Respiration Disorders / Q000235:genetics; D012907:Smoking; D013458:Sulfur Dioxide / Q000009:adverse effects; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin; D013458:Sulfur Dioxide