Preterm Birth Buccal Cell Epigenetic Biomarkers to Facilitate Preventative Medicine

Preterm birth is the major cause of newborn and infant mortality affecting nearly one in every ten live births. This study was designed to develop an epigenetic biomarker for susceptibility of preterm birth using buccal cells from the mother, father, and child (triads). MeDIP-seq was used to identify differential DNA methylation regions (DMRs) using a comparison of control term birth versus preterm birth triads. Epigenetic DMR associations with preterm birth were identified for both the mother and father that were distinct and suggest potential epigenetic contributions from both parents. The mother (165 DMRs) and female child (136 DMRs) at p<1e-04 had the highest number of DMRs and were highly similar suggesting potential epigenetic inheritance of the epimutations. The male child had negligible DMR associations. The DMR associated genes for each group involve previously identified preterm birth associated genes. Buccal cells were collected from the mother, father, and newborn child (triads) to assess differences in methylation in each group separately. The full term (FT) birth controls had 21 triad participants and the pre-term birth (PTB) cases had 19 triad participants. DNA was isolated from the buccal cell collections and analyzed with a methylated DNA immunoprecipitation (MeDIP) procedure to obtain methylated DNA for subsequent sequencing (Seq) for an MeDIP-Seq protocol. Differential DNA methylation regions (DMRs) were identified by comparing the control and PTB case samples for each mother, father, or child triad.