Genetic Factors Affecting Lung Function in COPD
Author Information
Author(s): Wilk Jemma B., Chen Ting-hsu, Gottlieb Daniel J., Walter Robert E., Nagle Michael W., Brandler Brian J., Myers Richard H., Borecki Ingrid B., Silverman Edwin K., Weiss Scott T., O'Connor George T.
Primary Institution: Boston University School of Medicine
Hypothesis
The study aims to identify single-nucleotide polymorphisms (SNPs) associated with the FEV1/FVC ratio in participants of the Framingham Heart Study.
Conclusion
The study identified a significant association between SNPs on chromosome 4 and the FEV1/FVC ratio, suggesting genetic factors influence lung function in COPD.
Supporting Evidence
- Four SNPs on chromosome 4q31 were associated with the FEV1/FVC ratio with a best p-value of 3.6e-09.
- The SNP rs13147758 was confirmed in the Family Heart Study with a p-value of 2.0e-04.
- The minor allele of rs13147758 was associated with higher FEV1/FVC ratio levels.
Takeaway
Scientists looked at the genes of people to see how they affect breathing. They found some genes that might help explain why some smokers get lung problems and others don't.
Methodology
The study performed a genome-wide association study (GWAS) analyzing SNPs in relation to the FEV1/FVC ratio in participants from the Framingham Heart Study and the Family Heart Study.
Potential Biases
Potential bias may arise from population stratification and the exclusion of asthmatic participants.
Limitations
The study's findings may be limited by the sample size of the replication study and the potential misclassification of airflow obstruction.
Participant Demographics
The study included 7691 white participants from the Framingham Heart Study and 835 non-asthmatic white participants from the Family Heart Study.
Statistical Information
P-Value
2.31E-08
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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