Fig. 1

Sex differences in autosomal DNAme patterns by placental sex. a Cell type proportions by sex in the discovery cohort, estimated using the R package PlaNET. Cell type proportions do not significantly differ by sex (p > 0.05). b Volcano plot of all 324,104 autosomal CpG sites in the discovery cohort. Thresholds of statistical and biological significance are depicted by horizontal (FDR < 0.01) and vertical (∆β > 0.10) intercepts. Significantly differentially methylated autosomal CpG sites by sex (FDR < 0.01, ∆β > 0.10) are highlighted in color to indicate direction of sex-biased DNAme. CpG sites in yellow have significantly higher average male DNAme at these thresholds, and red sites exhibit higher female DNAme. CpG sites not significantly differentially methylated by sex at these thresholds are in gray. Each point represents a single CpG site, ∆β = β_avgmale − β_avgfemale. The most differentially methylated CpG sites are annotated with associated genes names. c The number of differentially methylated (FDR < 0.05) CpG sites at various ∆β thresholds; DMPs that are more highly methylated in male samples are indicated in red, and DMPs more highly methylated in female samples are indicated in orange. d Percentage of DMPs at various ∆β thresholds that replicate (FDR < 0.05, ∆β same direction) in GSE71678, colored by sex with higher DNAme. e For all DMPs at the ∆β thresholds considered, the percentage of DMPs with higher male DNAme