title: [Genetics of chronic obstructive pulmonary disease].
abstract: Chronic obstructive pulmonary disease (COPD) is a complex disease that results from the interaction of multiple genetic and environmental factors. Different approaches have been used to identify the genetic factors: genome-wide linkage study, gene expression profiling, candidate gene association study, and genome-wide association study. Although many genes responsible for susceptibility to COPD have been reported, most of them have not been replicated in other study populations. Difficulty in replication is attributed to the genetic and phenotypic heterogeneity of the disease as well as the small influence of each gene on the development of the disease. A more precise definition is required for the characterization of different COPD phenotypes such as emphysema and small airway disease. A combination of several approaches using the improved phenotypes will lead to detection of novel susceptibility genes and new therapeutic targets.
authors.affiliation: Department of Pulmonary Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba.
authors.forename: Tohru
authors.initials: T
authors.lastname: Sakamoto
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Hizawa
mesh_terms: D004198:Disease Susceptibility; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*