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Framingham Heart Study genome-wide association: results for pulmonary function measures
Jemma B Wilk1, Robert E Walter, Jason M Laramie
1Department of Neurology, Boston University School of Medicine, Boston, MA, USA. jwilk@bu.edu
BMC Medical Genetics
|October 16, 2007
Summary
Genome-wide association studies identified GSTO2 and IL6R as credible candidate genes for pulmonary function. These findings in the Framingham Heart Study require replication to understand their role in lung health.
Area of Science:
- Genetics
- Pulmonary Medicine
- Biostatistics
Background:
- Pulmonary function tests (spirometry) are crucial for diagnosing chronic obstructive pulmonary disease (COPD).
- Lung function is a highly heritable trait, suggesting a significant genetic component.
- Genome-wide association (GWA) studies are powerful tools for identifying genetic variants associated with complex traits.
Purpose of the Study:
- To conduct GWA analyses to identify genetic loci associated with pulmonary function measures.
- To investigate the genetic underpinnings of lung function variability in a large cohort.
- To identify candidate genes for COPD susceptibility and progression.
Main Methods:
- Utilized Affymetrix 100K SNP GeneChip for GWA analyses in the Framingham Heart Study cohort.
- Examined ten spirometry phenotypes including percent predicted, mean measures, and rates of change for FEV1, FVC, FEF25-75, and their ratios.
- Adjusted for covariates such as smoking status, pack-years, BMI, age, and height; analyses were stratified by sex and cohort.
Main Results:
- Identified a single nucleotide polymorphism (SNP) in the interleukin 6 receptor (IL6R) gene associated with percent predicted FEF25-75.
- A non-synonymous coding SNP in glutathione S-transferase omega 2 (GSTO2) gene showed top results for mean FEV1 and FVC.
- SNPs near SOD3 and vitamin D binding protein genes, known COPD candidates, were associated with percent predicted pulmonary function phenotypes.
Conclusions:
- GSTO2 and IL6R are identified as credible candidate genes for pulmonary function.
- The observed genetic associations with lung function warrant further replication studies.
- GWA results for pulmonary function measures are publicly available for research use.
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