Genetics of sputum gene expression in chronic obstructive pulmonary disease

Weiliang Qiu, Michael H Cho, John H Riley, Wayne H Anderson, Dave Singh, Per Bakke, Amund Gulsvik, Augusto A Litonjua, David A Lomas, James D Crapo, Terri H Beaty, Bartolome R Celli, Stephen Rennard, Ruth Tal-Singer, Steven M Fox, Edwin K Silverman, Craig P Hersh, ECLIPSE Investigators, Bill MacNee

Research output: Contribution to journalArticlepeer-review


Previous expression quantitative trait loci (eQTL) studies have performed genetic association studies for gene expression, but most of these studies examined lymphoblastoid cell lines from non-diseased individuals. We examined the genetics of gene expression in a relevant disease tissue from chronic obstructive pulmonary disease (COPD) patients to identify functional effects of known susceptibility genes and to find novel disease genes. By combining gene expression profiling on induced sputum samples from 131 COPD cases from the ECLIPSE Study with genomewide single nucleotide polymorphism (SNP) data, we found 4315 significant cis-eQTL SNP-probe set associations (3309 unique SNPs). The 3309 SNPs were tested for association with COPD in a genomewide association study (GWAS) dataset, which included 2940 COPD cases and 1380 controls. Adjusting for 3309 tests (p
Original languageEnglish
Pages (from-to)e24395
JournalPLoS ONE
Issue number9
Publication statusPublished - 2011


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