Folliculin mutations and severe COPD
Author Information
Author(s): Michael H. Cho, Barbara J. Klanderman, Augusto A. Litonjua, David Sparrow, Edwin K. Silverman, Benjamin A. Raby
Primary Institution: Channing Laboratory, Department of Medicine, Brigham and Women's Hospital; and Harvard Medical School, Boston, MA, USA
Hypothesis
Are folliculin sequence variants risk factors for severe COPD?
Conclusion
Genetic variation in folliculin does not appear to be a major risk factor for severe COPD.
Supporting Evidence
- None of the seven previously reported mutations were found in the severe COPD probands.
- 31 variants were identified, but none were associated with COPD or emphysema-related phenotypes.
- The study suggests that familial spontaneous pneumothorax and COPD have distinct genetic causes.
Takeaway
The study looked at whether certain gene mutations are linked to a serious lung disease called COPD, and found that they are not.
Methodology
Genotyping of folliculin mutations in severe COPD probands and resequencing of folliculin exons.
Potential Biases
Potential bias due to the specific ethnic background of the participants.
Limitations
The sample size is relatively modest and primarily Caucasian, which may limit generalizability.
Participant Demographics
The study included 152 severe COPD probands, with a notable female predominance.
Statistical Information
P-Value
p<0.0001
Statistical Significance
p<0.0001
Digital Object Identifier (DOI)
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