Genetic variants influence on the placenta regulatory landscape

• DOI: 10.1371/journal.pgen.1007785
• Publication Date: 2018-11-19T18:23:27Z
• Authors: Fabien Delahaye; Catherine Do; Yu Kong; Remi Ashkar; Martha Salas; Ben Tycko; Ronald Wapner; Francine Hughes
• Keywords: Epigenomics; Epigenome; DNA binding site; Human genetics

From genomic association studies, quantitative trait loci analysis, and epigenomic mapping, it is evident that significant efforts are necessary to define genetic-epigenetic interactions understand their role in disease susceptibility progression. For this reason, an analysis of the effects genetic variation on gene expression DNA methylation human placentas at high resolution whole-genome coverage will have multiple mechanistic practical implications. By producing analyzing sequence (n = 303), 303) mRNA data 80) from healthy women, we investigate regulatory landscape placenta offer analytical approaches integrate different types address some potential limitations current platforms. We distinguish two profiles interaction between methylation, revealing linear or bimodal effects, reflecting differences context, transcription factor recruitment, possibly cell subpopulations. These findings help clarify genetic, epigenetic, transcriptional mechanisms normal placentas. They also provide strong evidence for genotype-driven modifications In addition these implications, methods presented here improve interpretability genome-wide epigenome-wide studies traits diseases involve placental functions.