Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits.

doi:10.1093/nar/gkae1270

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Article

Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits.

Nucleic acids research - 8 Feb 2025

Wan Jing, van Ouwerkerk Antoinette, Mouren Jean-Christophe, Heredia Carla, Pradel Lydie, Ballester Benoit, Andrau Jean-Christophe, Spicuglia Salvatore

Abstract excerpt

There is growing evidence that a wide range of human diseases and physiological traits are influenced by genetic variation of cis-regulatory elements. We and others have shown that a subset of promoter elements, termed Epromoters, also function as enhancer regulators of distal genes. This opens a paradigm in the study of regulatory variants, as single nucleotide polymorphisms (SNPs) within Epromoters might...

Read the complete abstract on PubMed

Topics

Humans
Quantitative Trait Loci
Genome-Wide Association Study
Promoter Regions, Genetic
Polymorphism, Single Nucleotide

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Enhancer Elements, Genetic

Genetic Pleiotropy

Genetic Predisposition to Disease

Epigenesis, Genetic

Chromatin

Genetic Variation

Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 39727170
DOI: 10.1093/nar/gkae1270
PMCID: PMC11879118

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