Aim: To detect expression quantitative trait methylation (eQTM) loci within the cerebrum of prenatal Down syndrome (DS) and controls. Material & methods: DNA methylation gene expression profiles were acquired from NeuN+ nuclei, obtained from cerebrum sections of DS and controls. Linear regression models were applied to both datasets and were subsequently applied in an integrative analysis model to detect DS-associated eQTM loci. Results & conclusion: Widespread aberrant DNA methylation and gene expression were observed in DS. A substantial number of differentially methylated loci were replicated according to a previously reported study. Subsequent integrative analyses (eQTM) yielded numerous associated DS loci. the authors associated DNA methylation, gene expression and eQTM loci with DS that may underlie particular DS phenotypical characteristics.
Keywords: DNA methylation; Down syndrome; Gene expression; Trisomy 21; eQTM.
Down syndrome (DS) is a common (1 of 1000 live births) autosomal aneuploidy in humans. Epigenetic programming regulates gene expression, defines cell fate and differentiation and drives early development. The authors aimed to detect DNA loci that are linked with the early developing brain of DS by analyzing DNA methylation and gene expression in prenatal DS neuronal samples. Numerous differential DNA methylated and expressed loci were found to be linked with DS. These findings may underlie particular DS characteristics, yet follow-up confirmation is required.