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Down syndrome is associated with genome-wide perturbation of gene expression, which may be mediated by epigenetic changes. We perform an epigenome-wide association study on neonatal bloodspots comparing 196 newborns with Down syndrome and 439 newborns without Down syndrome, adjusting for cell-type heterogeneity, which identifies 652 epigenome-wide significant CpGs (P 

Original publication




Journal article


Nat Commun

Publication Date





Case-Control Studies, Core Binding Factor Alpha 2 Subunit, CpG Islands, DNA Methylation, Down Syndrome, Epigenesis, Genetic, Female, Fetus, GATA1 Transcription Factor, Genome, Human, Genome-Wide Association Study, Hematopoiesis, Hematopoietic Stem Cells, Humans, Infant, Newborn, Liver, Male, Promoter Regions, Genetic, Proto-Oncogene Protein c-fli-1