Fig. 1

Location and methylation levels of CpG sites in CASP8 examined in the discovery and validation stage in human subjects. a Locations of the CpG sites detected by HM450K and Sequenom EpiTYPER. The differentially methylated CpG units identified by HM450K Array are indicated as red dots above the black line. CpG sites detected in the validation stage are indicated as blue dots under the black line. b Methylation patterns of the CASP8 gene detected with Sequenom EpiTYPER in a larger sample of human subjects. Methylation levels for each CpG unit between NTD cases and controls within the amplicons were analyzed. HM450K, HumanMethylation450 BeadChip; NTD, neural tube defect. *Methylation levels of CpG sites were significantly different between the case and control groups (all p < 0.05)