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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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. |
format | Online Article Text |
id | pubmed-5477265 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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