Opportunities and Challenges in the Genetics of COPD
Author Information
Author(s): Edwin K. Silverman, Jørgen Vestbo, Alvar Agusti, Wayne Anderson, Per S. Bakke, Kathleen C. Barnes, R. Graham Barr, Eugene R. Bleecker, Kristin M. Burkart, Bartolome R. Celli, Michael H. Cho, William O.C. Cookson, Thomas Croxton, Denise Daley, Dawn L. DeMeo, Weiniu Gan, Judith Garcia-Aymerich, Nadia N. Hansel, Craig Hersh, Noor Kalsheker, James P. Kiley, Woo Jin Kim, Diether Lambrechts, Sang-Do Lee, Stephanie J. London, Masaharu Nishimura, Borge G. Nørdestgaard, Christopher O'Donnell, Martin D. Tobin, Claus Vogelmeier, Jemma B. Wilk, Emiel Wouters, Robert P. Young, Loems Ziegler-Heitbrock, William MacNee, James D. Crapo
Primary Institution: Brigham and Women's Hospital, Harvard Medical School
Hypothesis
There could be genetic differences in susceptibility to the effects of cigarette smoking on COPD.
Conclusion
The identification of genetic risk factors for COPD has been slow, but recent advances in genetic research offer new hope for understanding the disease.
Supporting Evidence
- Genetic factors can influence COPD susceptibility, as shown by the small percentage of patients with severe alpha-1 antitrypsin deficiency.
- Genome-wide association studies have identified three genetic loci associated with COPD susceptibility.
- Collaborative consortia have been successful in identifying genetic determinants in other diseases, suggesting a similar approach could benefit COPD research.
Takeaway
Scientists are trying to find out why some smokers get COPD and others don't, and they think genes might play a big role.
Methodology
The conference reviewed current COPD genetics research, discussed study populations, and considered collaboration opportunities.
Potential Biases
Most studies have been performed in White populations, which may limit the generalizability of findings.
Limitations
Many studies have small sample sizes and inconsistent methodologies, which complicates the identification of genetic factors.
Participant Demographics
The majority of studies have been performed in White populations, with some including Asian and African American participants.
Digital Object Identifier (DOI)
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