Genetic-epigenetic interactions in cis

A major focus in the post-GWAS era

Catherine Do, Alyssa Shearer, Masako Suzuki, Mary Beth Terry, Joel Gelernter, John M. Greally, Benjamin Tycko

Research output: Contribution to journalReview article

27 Citations (Scopus)

Abstract

Studies on genetic-epigenetic interactions, including the mapping of methylation quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation (hap-ASM), have become a major focus in the post-genome-wide-association-study (GWAS) era. Such maps can nominate regulatory sequence variants that underlie GWAS signals for common diseases, ranging from neuropsychiatric disorders to cancers. Conversely, mQTLs need to be filtered out when searching for non-genetic effects in epigenome-wide association studies (EWAS). Sequence variants in CCCTC-binding factor (CTCF) and transcription factor binding sites have been mechanistically linked to mQTLs and hap-ASM. Identifying these sites can point to disease-associated transcriptional pathways, with implications for targeted treatment and prevention.

Original languageEnglish (US)
Article number120
JournalGenome Biology
Volume18
Issue number1
DOIs
StatePublished - Jun 19 2017

Fingerprint

Quantitative Trait Loci
Genome-Wide Association Study
methylation
Epigenomics
epigenetics
Methylation
quantitative trait loci
genome
DNA methylation
DNA Methylation
Haplotypes
haplotypes
Alleles
alleles
regulatory sequences
allele
binding sites
Transcription Factors
DNA
transcription factors

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology

Cite this

Genetic-epigenetic interactions in cis : A major focus in the post-GWAS era. / Do, Catherine; Shearer, Alyssa; Suzuki, Masako; Terry, Mary Beth; Gelernter, Joel; Greally, John M.; Tycko, Benjamin.

In: Genome Biology, Vol. 18, No. 1, 120, 19.06.2017.

Research output: Contribution to journalReview article

Do, Catherine ; Shearer, Alyssa ; Suzuki, Masako ; Terry, Mary Beth ; Gelernter, Joel ; Greally, John M. ; Tycko, Benjamin. / Genetic-epigenetic interactions in cis : A major focus in the post-GWAS era. In: Genome Biology. 2017 ; Vol. 18, No. 1.
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