Identifying Genetic Risk Factors for COPD
Author Information
Author(s): Pillai Sreekumar G., Ge Dongliang, Zhu Guohua, Kong Xiangyang, Shianna Kevin V., Need Anna C., Feng Sheng, Hersh Craig P., Bakke Per, Gulsvik Amund, Ruppert Andreas, Lødrup Carlsen Karin C., Roses Allen, Anderson Wayne, Rennard Stephen I., Lomas David A., Silverman Edwin K., Goldstein David B.
Primary Institution: GlaxoSmithKline Research and Development
Hypothesis
What are the genetic factors that contribute to the risk of developing chronic obstructive pulmonary disease (COPD)?
Conclusion
The study identified two significant genetic loci associated with COPD risk, specifically the CHRNA3/5 and HHIP loci.
Supporting Evidence
- The study identified two SNPs at the CHRNA3/5 locus with strong evidence of association with COPD.
- The C allele of the rs8034191 SNP was estimated to have a population attributable risk for COPD of 12.2%.
- Replication of findings was observed across multiple independent cohorts.
- Significant associations were also found with lung function measures in the studied populations.
Takeaway
Scientists found two important genes that can make people more likely to get a lung disease called COPD, especially if they smoke.
Methodology
The study used a genome-wide association study (GWAS) design with case-control cohorts from Norway and other populations to identify genetic associations.
Potential Biases
Potential bias due to differences in smoking behavior between cases and controls.
Limitations
The study may not account for all genetic factors influencing COPD due to the complexity of the disease and variations in smoking behavior.
Participant Demographics
The study included 823 COPD cases and 810 smoking controls, primarily Caucasian individuals.
Statistical Information
P-Value
1.48×10−10
Statistical Significance
p<1.01×10−7
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website