title: Protease inhibitor phenotype BsaskatoonM is not associated with emphysema - a 20-year follow-up study.
abstract: OBJECTIVE
  To investigate the association between the PiBsaskatoon variant of alpha-1 protease inhibitor (a1 Pi), present in the heterozygous state, and the development of emphysema.
  
  
  METHODS
  Twenty-year follow-up in the third generation of a family with the variant, naturally controlled with regard to both environmental influences and other genetic factors.
  
  
  METHODS
  University teaching hospital.
  
  
  METHODS
  Ten siblings, five with PiBsaskatoonM phenotype and five with PiM phenotype, 33 to 46 years of age.
  
  
  METHODS
  Respiratory symptoms and smoking histories; pulmonary function tests, including static lung volumes, dynamic lung volumes before and after salbutamol 200 mg, and diffusing capacity; allergen prick skin tests; serum a1 Pi level, chest radiographs and high resolution computerized tomography lung scans
  
  
  RESULTS
  The two groups of siblings had similar mean ages, smoking histories and prevalence of current mild respiratory symptoms. Pulmonary function data showed normal mean values and no statistically significant differences for all the variables between the two groups. Chest radiographs were normal in all subjects. High resolution computerized tomography scans were normal in eight subjects, and demonstrated mild and very mild centrilobular emphysema in the two subjects with greatest smoking histories (approximately 30 pack-year each); both of these were PiBsaskatoonM phenotype.
  
  
  CONCLUSIONS
  There is no evidence of an association between a1 Pi phenotype PiBsaskatoonM and the development of emphysema.
authors.affiliation: University of Saskatchewan, Saskatoon, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Jokic
authors.forename: K L
authors.initials: KL
authors.lastname: Fisher
authors.forename: D W
authors.initials: DW
authors.lastname: Cockcroft
mesh_terms: D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000453:epidemiology / Q000235:genetics*; D012907:Smoking / Q000453:epidemiology; D013997:Time Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin