Jayshree Advani, Puja A Mehta, Andrew R Hamel, Sudeep Mehrotra, Christina Kiel, Tobias Strunz, Ximena Corso-Díaz, Madeline Kwicklis, Freekje van Asten, Rinki Ratnapriya, Emily Y Chew, Dena G Hernandez, Sandra R Montezuma, Deborah A Ferrington, Bernhard H F Weber, Ayellet V Segrè, Anand Swaroop
DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, uncovering sites of genetic regulation in cis (37,453 methylation quantitative trait loci and 12,505 expression quantitative trait loci) and 13,747 DNA methylation loci affecting gene expression, with over one-third specific to the retina. Methylation and expression quantitative trait loci show non-random distribution and enrichment of biological processes related to synapse, mitochondria, and catabolism...
March 4, 2024: Nature Communications