RNAseq analysis of bronchial epithelial cells to identify COPD-associated genes and SNPs

• Published in: BMC pulmonary medicine Vol. 18; no. 1; pp. 42 - 13
• Main Authors: Yeo, Jiyoun, Morales, Diego A., Chen, Tian, Crawford, Erin L., Zhang, Xiaolu, Blomquist, Thomas M., Levin, Albert M., Massion, Pierre P., Arenberg, Douglas A., Midthun, David E., Mazzone, Peter J., Nathan, Steven D., Wainz, Ronald J., Nana-Sinkam, Patrick, Willey, Paige F. S., Arend, Taylor J., Padda, Karanbir, Qiu, Shuhao, Federov, Alexei, Hernandez, Dawn-Alita R., Hammersley, Jeffrey R., Yoon, Youngsook, Safi, Fadi, Khuder, Sadik A., Willey, James C.
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 05.03.2018; BioMed Central; BMC
• Subjects: Alleles; Analysis; Bronchi - pathology; Bronchitis; Case-Control Studies; CAT; cis-regulation; COPD; DNA-Binding Proteins - genetics; Endonucleases - genetics; Epithelial Cells - metabolism; eQTL; ERCC5; Female; Gene expression; Gene Expression Regulation; Genetic aspects; Genetic Predisposition to Disease; Genome-Wide Association Study; GWAS; Humans; Male; Middle Aged; Nuclear Proteins - genetics; Polymorphism, Single Nucleotide; Pulmonary Disease, Chronic Obstructive - genetics; Pulmonary Disease, Chronic Obstructive - pathology; Quantitative Trait Loci; Risk factors; RNA sequencing; Sequence Analysis, RNA; Single nucleotide polymorphisms; Transcription (Genetics); Transcription Factors - genetics; Tumor proteins; Bronchial epithelial cells; GPX1; GWAS; CAT; CEBPG; XPA; cis-regulation; KEAP1; ERCC5; eQTL; COPD; TP73

There is a need for more powerful methods to identify low-effect SNPs that contribute to hereditary COPD pathogenesis. We hypothesized that SNPs contributing to COPD risk through cis-regulatory effects are enriched in genes comprised by bronchial epithelial cell (BEC) expression patterns associated...