Genetics of Sputum Gene Expression in Chronic Obstructive Pulmonary Disease
Author Information
Author(s): Qiu Weiliang, Cho Michael H., Riley John H., Anderson Wayne H., Singh Dave, Bakke Per, Gulsvik Amund, Litonjua Augusto A., Lomas David A., Crapo James D., Beaty Terri H., Celli Bartolome R., Rennard Stephen, Tal-Singer Ruth, Fox Steven M., Silverman Edwin K., Hersh Craig P.
Primary Institution: Channing Laboratory, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
Hypothesis
eQTL analysis will improve understanding of previously known COPD susceptibility loci, such as chromosome 15q25; and eQTL SNPs can be used to identify novel COPD susceptibility genes.
Conclusion
The study identified significant eQTL SNPs associated with COPD and implicated two distinct susceptibility genes in a known region on chromosome 15.
Supporting Evidence
- The study found 4315 significant cis-eQTL SNP-probe set associations.
- Two SNPs significantly associated with COPD were located in genes CHRNA5 and IREB2.
- Seventy-four additional eQTL SNPs were associated with COPD at p<0.01.
Takeaway
Researchers looked at genes in the sputum of COPD patients to find out how their DNA affects gene expression and discovered new links to the disease.
Methodology
The study combined gene expression profiling on sputum samples from COPD patients with genome-wide SNP data to identify eQTLs.
Potential Biases
The study only included Caucasian subjects, which may limit the generalizability of the findings.
Limitations
The sample size of 131 subjects may be underpowered to detect all potential eQTL associations.
Participant Demographics
The study included 131 COPD patients, primarily ex-smokers, with a mean age of 64.9 years.
Statistical Information
P-Value
p<1.5e-5
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website