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Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era

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 sequen...

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Autores principales: Do, Catherine, Shearer, Alyssa, Suzuki, Masako, Terry, Mary Beth, Gelernter, Joel, Greally, John M., Tycko, Benjamin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477265/
https://www.ncbi.nlm.nih.gov/pubmed/28629478
http://dx.doi.org/10.1186/s13059-017-1250-y
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author Do, Catherine
Shearer, Alyssa
Suzuki, Masako
Terry, Mary Beth
Gelernter, Joel
Greally, John M.
Tycko, Benjamin
author_facet Do, Catherine
Shearer, Alyssa
Suzuki, Masako
Terry, Mary Beth
Gelernter, Joel
Greally, John M.
Tycko, Benjamin
author_sort Do, Catherine
collection PubMed
description 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.
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spelling pubmed-54772652017-06-23 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 Genome Biol Review 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. BioMed Central 2017-06-19 /pmc/articles/PMC5477265/ /pubmed/28629478 http://dx.doi.org/10.1186/s13059-017-1250-y Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Review
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
title Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
title_full Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
title_fullStr Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
title_full_unstemmed Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
title_short Genetic–epigenetic interactions in cis: a major focus in the post-GWAS era
title_sort genetic–epigenetic interactions in cis: a major focus in the post-gwas era
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477265/
https://www.ncbi.nlm.nih.gov/pubmed/28629478
http://dx.doi.org/10.1186/s13059-017-1250-y
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