Thermo ebook on eQTL - 6

A Complete Workflow for
Discovery and Verification of
eQTLs in Lung Adenocarcinoma
Studying eQTLs associated with lung adenocarcinoma could help
provide further insights into the molecular mechanisms of this disease.
Harita Veereshlingam, Ph.D.
and pathologies. It has been estimated that as many
as 90% of single nucleotide polymorphisms (SNPs)
identified in GWAS studies map to noncoding regions, and that these noncoding SNPs function by
regulating the expression of one or more genes.2
This raises the possibility that some of these SNPs
fall into promoter/enhancer regions and could be involved in the phenotype and pathology of diseases
by altering the expression levels of associated genes.

In this section, we show
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the importance of studying expression
quantitative trait loci (eQTLs) in
disease research

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the discovery of eQTLs with microarrays
using Applied Biosystems™ Clariom™ D
Assays for gene expression and Applied
Biosystems™ Axiom™ Precision Medicine
Research Arrays for genotyping

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eQTLs are defined as SNPs that have an influence on
gene expression levels. The study of eQTLs provides
a means for understanding the link between genetic variants and altered gene expression, and it could
potentially provide new insights connecting GWAS
results to molecular mechanisms.3 Since the majority of inherited cancer risk variants as identified by
GWAS are in noncoding regions, understanding the
function of these eQTLs can provide important insights into tumor etiology.

the verification of eQTLs with qPCR using
Applied Biosystems™ TaqMan® Gene
Expression and TaqMan® Genotyping assays

Introduction
eQTLs have become increasingly important in understanding the molecular mechanisms of diseases.1
Genome-wide association studies (GWAS) have revealed associations between genotype, phenotype,

The identification and characterization of eQTLs involves the overlap of genomic and transcriptomic

6
Thermo ebook on eQTL

Table of Contents for the Digital Edition of Thermo ebook on eQTL
