Accommodating pathway information in expression quantitative trait locus analysis

  • Wessel J
  • Zapala M
  • Schork N
  • 5


    Mendeley users who have this article in their library.
  • N/A


    Citations of this article.


The availability of high-throughput genotyping technologies and microarray assays has allowed researchers to consider pursuing investigations whose ultimate goal is the identification of genetic variations that influence levels of gene expression, e.g., "expression quantitative trait locus" or "eQTL" mapping studies. However, the large number of genes whose expression levels can be tested for association with genetic variations in such studies can create both statistical and biological interpretive problems. We consider the integrated analysis of eQTL mapping data that incorporates pathway, function, and disease process information. The goal of this analysis is to determine if compelling patterns emerge from the data that are consistent with the notion that perturbations in the molecular physiologic environment induced by genetic variations implicate the expression patterns of multiple genes via genetic network relationships or feedback mechanisms. We apply available genetic network and pathway analysis software, as well as a novel regression analysis technique, to carry out the proposed studies. We also consider extensions of the proposed strategies and areas of future research.

Author-supplied keywords

  • *Quantitative Trait Loci
  • Chromosome Mapping/*methods
  • Gene Expression Regulation/*genetics
  • Genetic Markers/genetics
  • Humans
  • Polymorphism, Single Nucleotide
  • Signal Transduction/*genetics

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document


  • J Wessel

  • M A Zapala

  • N J Schork

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free