Purpose of review: There is growing evidence that genetics plays a role in the development of chronic obstructive pulmonary disease. This review deals with the most recent findings, new methods to detect genetic susceptibility that may be helpful in this field, and how the environment may act on the genetic code of susceptible individuals and chronic obstructive pulmonary disease sufferers.
Recent findings: Candidate gene association studies have identified genes that may have roles in the pathogenesis of chronic obstructive pulmonary disease. Not all studies that have found associations between genes and chronic obstructive pulmonary disease phenotypes have been replicated, however. The realization of this challenge in itself is a major step forward and, coupled with exciting new methods to identify susceptibility genes, may provide the impetus to move the field beyond the notion that alpha-1 antitrypsin is the only proven cause of the disease.
Summary: Candidate gene studies need to be interpreted with caution because of their lack of reproducibility. Genome-wide association studies may offer the best approach to identifying susceptibility genes in chronic obstructive pulmonary disease. Epigenetics needs to be considered in concert with genetic findings.