Expression quantitative trait loci (eQTLs) are SNPs that have an influence on expression levels of genes, and the identification and characterization of eQTLs involves the overlap of genomic and transcriptomic analyses. Analysis of eQTLs provides a means for understanding the link between genetic variants and altered gene expression, and could potentially provide new insights connecting GWAS results to molecular mechanisms. eQTLs have become extremely important in understanding mechanisms of disease progression and are gaining importance as biomarkers in diseases.

 

Lung adenocarcinoma accounts for more than 40% of all lung cancers, and heritability is considered to play a significant role in the development of this disease, among other factors. Although previous GWAS have identified several lung cancer susceptibility loci, the functionality of most of these loci still remains unexplained. Studying eQTLs associated with lung adenocarcinoma could help us understand the function of these loci and provide further insights into the molecular mechanism of this disease.

 

Thermo Fisher Scientific’s microarray solutions enable genome-wide and transcriptome-wide analysis with simple workflows and data analyses packages. In this study we demonstrate a streamlined workflow using the Applied Biosystems Axiom Precision Medicine Research Array (PMRA; for genotyping) and the Clariom D Assay (for gene expression) to discover/screen eQTLs associated with lung adenocarcinoma. We also show how these eQTLs can be verified using TaqMan Genotyping and Gene Expression Assays for real-time PCR.

 

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