title: Co-regulatory expression quantitative trait loci mapping: method and application to endometrial cancer.
abstract: BACKGROUND
  Expression quantitative trait loci (eQTL) studies have helped identify the genetic determinants of gene expression. Understanding the potential interacting mechanisms underlying such findings, however, is challenging.
  
  
  METHODS
  We describe a method to identify the trans-acting drivers of multiple gene co-expression, which reflects the action of regulatory molecules. This method-termed co-regulatory expression quantitative trait locus (creQTL) mapping-allows for evaluation of a more focused set of phenotypes within a clear biological context than conventional eQTL mapping.
  
  
  RESULTS
  Applying this method to a study of endometrial cancer revealed regulatory mechanisms supported by the literature: a creQTL between a locus upstream of STARD13/DLC2 and a group of seven IFNβ-induced genes. This suggests that the Rho-GTPase encoded by STARD13 regulates IFNβ-induced genes and the DNA damage response.
  
  
  CONCLUSIONS
  Because of the importance of IFNβ in cancer, our results suggest that creQTL may provide a finer picture of gene regulation and may reveal additional molecular targets for intervention. An open source R implementation of the method is available at http://sites.google.com/site/kenkompass/.
authors.affiliation: Department of Epidemiology and Biostatistics, Institute for Human Genetics, University of California, San Francisco, USA.
authors.forename: Kenneth S
authors.initials: KS
authors.lastname: Kompass
authors.forename: John S
authors.initials: JS
authors.lastname: Witte
mesh_terms: D002874:Chromosome Mapping / Q000379:methods*; D030541:Databases, Genetic; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D005786:Gene Expression Regulation; D006801:Humans; D010641:Phenotype; D040641:Quantitative Trait Loci