Integrative analysis of DNA methylation and gene expression data identifies EPAS1 as a key regulator of COPD.

ABSTRACT: Chronic Obstructive Pulmonary Disease (COPD) is a complex disease. Genetic, epigenetic, and environmental factors are known to contribute to COPD risk and disease progression. Therefore we developed a systematic approach to identify key regulators of COPD that integrates genome-wide DNA methylation, gene expression, and phenotype data in lung tissue from COPD and control samples. Our integrative analysis identified 126 key regulators of COPD. We identified EPAS1 as the only key regulator whose downstream genes significantly overlapped with multiple genes sets associated with COPD disease severity. EPAS1 is distinct in comparison with other key regulators in terms of methylation profile and downstream target genes. Genes predicted to be regulated by EPAS1 were enriched for biological proces

SUBMITTER: Yoo S 

PROVIDER: S-EPMC4287352 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature