Fig. 4

DNA methylation quantitative trait loci (mQTL) mapping can localize putative causal loci associated with ASD. Presented here is a genomic region (chr8:10268916–10,918,152) identified in a recent GWAS analysis of ASD [13]. At the top of the figure is a schematic detailing the genes located in this region which are identified by their Entrez ID number. All genetic variants identified in the ASD GWAS (P < 1 × 10⁻⁴) are represented by vertical solid lines where the color reflects the strength of the association ranging from gray (less significant P values) to black (more significant P values). A red vertical line indicates the most significant genetic variant in this region. All DNA methylation sites tested for neonatal blood mQTL in the MINERvA dataset are indicated by red vertical lines and genetic variants by blue vertical lines. Significant neonatal blood mQTLs (P < 1 × 10⁻¹³) are indicated by black diagonal lines between the respective genetic variant and DNA methylation site. Genomic locations are based on hg19. Additional examples of mQTLs in genomic regions showing genome-wide significant association with ASD are given in Additional file 1: Figure S22