Linkage of DNA methylation quantitative trait loci to human cancer risk

Holger Heyn, Sergi Sayols, Catia Moutinho, Enrique Vidal, Jose V Sanchez-Mut, Olafur A Stefansson, Ernest Nadal, Sebastian Moran, Jorunn E Eyfjord, Eva Gonzalez-Suarez, Miguel Angel Pujana, Manel Esteller

Research output: Contribution to journalArticlepeer-review


Epigenetic regulation and, in particular, DNA methylation have been linked to the underlying genetic sequence. DNA methylation quantitative trait loci (meQTL) have been identified through significant associations between the genetic and epigenetic codes in physiological and pathological contexts. We propose that interrogating the interplay between polymorphic alleles and DNA methylation is a powerful method for improving our interpretation of risk alleles identified in genome-wide association studies that otherwise lack mechanistic explanation. We integrated patient cancer risk genotype data and genome-scale DNA methylation profiles of 3,649 primary human tumors, representing 13 solid cancer types. We provide a comprehensive meQTL catalog containing DNA methylation associations for 21% of interrogated cancer risk polymorphisms. Differentially methylated loci harbor previously reported and as-yet-unidentified cancer genes. We suggest that such regulation at the DNA level can provide a considerable amount of new information about the biology of cancer-risk alleles.

Original languageEnglish
Pages (from-to)331-338
Number of pages8
JournalCell Reports
Issue number2
Publication statusPublished - 24 Apr 2014

Bibliographical note

Copyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.

Other keywords

  • Alleles
  • DNA Methylation
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study/methods
  • Humans
  • Neoplasms/genetics
  • Polymorphism, Genetic
  • Quantitative Trait Loci


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