The search for susceptibility genes of COPD.
Environmental factors, such as cigarette smoking, outdoor and indoor pollution, and childhood respiratory infections, are believed to play a major role as risk factors for developing chronic obstructive pulmonary disease (COPD). The only confirmed genetic risk factor for COPD is the inherited deficiency of alpha 1-proteinase inhibitor. However, the evidence of familial clustering of lung function and COPD occurrence and the development of COPD among susceptible smokers, at variance with the so-called resistant smokers, would suggest that the weight of genetic risk factors is greater than recognized. In this paper the role of candidate genes for increasing the risk of COPD (such as alpha 1-proteinase inhibitor, alpha 1-antichymotrypsin, cystic fibrosis transmembrane conductance regulator, and others) is reviewed.
Luisetti
M
M
Istituto di Tisiologia e Malattie Respiratorie, IRCCS Policlinico San Matteo, Università di Pavia, Italy.
Pignatti
P F
PF
D000328:Adult; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004198:Disease Susceptibility; D005819:Genetic Markers; D006801:Humans; D008173:Lung Diseases, Obstructive / Q000453:epidemiology* / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D017720:Molecular Epidemiology; D010641:Phenotype; D012307:Risk Factors; D000514:alpha 1-Antichymotrypsin / Q000172:deficiency* / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
C505032:CFTR protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D000514:alpha 1-Antichymotrypsin; D000515:alpha 1-Antitrypsin; D019005:Cystic Fibrosis Transmembrane Conductance Regulator