title: Genetic risk factors for chronic obstructive pulmonary disease.
abstract: Cigarette smoking is clearly the major risk factor for chronic obstructive pulmonary disease. However, only a minority of cigarette smokers develops chronic obstructive pulmonary disease, indicating that other factors are involved. Family and twin studies suggest that at least some of those factors are genetic. This article reviews the genes investigated as potential risk factors for this disease, focusing on the recent literature. The only established genetic risk factor for chronic obstructive pulmonary disease is homozygosity for the Z allele of the alpha1 -antitrypsin gene. There is increasing evidence that heterozygotes for the Z allele may also be at increased risk. Variants in genes involved in xenobiotic metabolism, antioxidation, and the inflammatory response have also been associated with chronic obstructive pulmonary disease. Thus, the genetic basis for chronic obstructive pulmonary disease has begun to be elucidated, and it is likely that several genes will be implicated in the pathogenesis of this disease.
authors.affiliation: University of British Columbia Pulmonary Research Laboratories/iCAPTURE Center, St. Paul's Hospital, Vancouver, British Columbia, Canada. asandford@mrl.ubc.ca
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Sandford
authors.forename: Ladina
authors.initials: L
authors.lastname: Joos
authors.forename: Peter D
authors.initials: PD
authors.lastname: Paré
mesh_terms: D000483:Alleles; D005260:Female; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D015994:Incidence; D008297:Male; D011379:Prognosis; D029424:Pulmonary Disease, Chronic Obstructive / Q000453:epidemiology* / Q000235:genetics*; D018570:Risk Assessment; D012307:Risk Factors; D012680:Sensitivity and Specificity