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Chunk #1 — Introduction

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Lung eQTLs to help reveal the molecular underpinnings of asthma.
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Integrative genomics is a promising new approach to identify true causal genes and variants. By using gene expression as a phenotype and examining how DNA polymorphisms contribute to both gene expression (expression quantitative trait loci – eQTLs) and disease phenotype, true causal relationships can be discovered [18]–[20]. In the present study we performed genome-wide genotyping and lung-specific gene expression on a large dataset of lung tissue (1,111 human subjects) to explore effects of genetic variation on gene expression and their joint relationship to asthma. Although the lung tissue came from a heterogeneous group of subjects, the discovery of lung tissue eSNPs could elucidate the causal molecular pathways in a variety of pulmonary disorders.