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Linkage of DNA methylation quantitative trait loci to human cancer risk
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Epigenetic regulation and, in particular, DNA methyl-
ation 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 power-
ful 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 pri-
mary human tumors, representing 13 solid cancer
types. We provide a comprehensive meQTL catalog
containing DNA methylation associations for 21%
of interrogated cancer risk polymorphisms. Differen-
tially 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.
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HEYN, Holger, et al. Linkage of DNA methylation quantitative trait loci to human cancer risk. Cell Reports. 2014. Vol. 7, num. 331–338. ISSN 2211-1247. [consulted: 3 of August of 2026]. Available at: https://hdl.handle.net/2445/69344