Expression Quantitative Trait Loci (eQTL) Analysis in Cancer

Methods Mol Biol. 2020:2082:189-199. doi: 10.1007/978-1-0716-0026-9_13.

Abstract

Expression quantitative trait loci (eQTL) analysis links variations in gene expression levels to genotypes. Analyzing both cis- and trans-eQTLs from tumor samples can provide an intermediate phenotype between genetic variation and complex traits to better understand how risk alleles contribute to tumorigenesis and development. Here we describe a detailed workflow for identifying eQTLs in cancer using existing packages and software. The key package is Matrix eQTL, which requires input data of genotypes, genes expression, and covariates. This pipeline can be easily applied in a related research field.

Keywords: Cancer; Covariates; Expression quantitative trait loci; Gene expression; Genotype; Matrix eQTL.

MeSH terms

  • Alleles
  • Computational Biology / methods
  • Gene Expression Profiling
  • Gene Expression*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Humans
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Neoplasms / mortality
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Quantitative Trait Loci*
  • Software