title: Alpha 1 antitrypsin polymorphism in the Tunisian population with special reference to pulmonary disease.
abstract: OBJECTIVE
  The study investigated alpha 1 antitrypsin (AAT) gene polymorphism in the Tunisian population. We aimed to analyze the correlation between Pi polymorphism and the risk of developing chronic obstructive pulmonary disease (COPD).
  
  
  METHODS
  We focused our study on two samples originating from the Tunisian centre: 318 healthy controls and 90 patients suffering from COPD. Data analysis was investigated by AAT level quantification, serum isoelectric focusing (IEF) and RFLP-PCR performed with PiS and PiZ allele specific primers.
  
  
  RESULTS
  We calculated PiM1, PiM2, PiM3, PiS and PiZ allele frequencies in patients and controls. The difference in allele frequencies is significant only for the PiM2 allele (P=0.00378). In COPD patients, we note the presence of PiZ allele. This allele mainly observed in European populations, is rare in sub-Saharian populations and not described in North Africa.
  
  
  CONCLUSIONS
  PiZ allele is found in COPD sample and never in Tunisian controls. However, no significant difference in PiZ allele frequency between patients and controls can be concluded. PiM2 allele, which is considered as "normal" variant can be associated with COPD risk.
authors.affiliation: Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, rue Avicenne, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Denden
authors.forename: A
authors.initials: A
authors.lastname: Haj Khelil
authors.forename: P
authors.initials: P
authors.lastname: Perrin
authors.forename: H
authors.initials: H
authors.lastname: Daimi
authors.forename: N
authors.initials: N
authors.lastname: Leban
authors.forename: A
authors.initials: A
authors.lastname: Ouaja
authors.forename: K
authors.initials: K
authors.lastname: Mahdouani
authors.forename: L
authors.initials: L
authors.lastname: Hlioui
authors.forename: G
authors.initials: G
authors.lastname: Lefranc
authors.forename: J
authors.initials: J
authors.lastname: Ben Chibani
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology / Q000235:genetics*; D012016:Reference Values; D012907:Smoking; D014416:Tunisia; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin