Henneman Peter, Mul Adri N, Li Yim Andrew Yf, Krzyzewska Izabela M, Alders Mariëlle, Adelia Adelia, Mizee Mark R, Mannens Marcel M
Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, Meibergdreef 9, Amsterdam, AZ, 1105, The Netherlands.
Neuroimmunology Research Group & Netherlands Brain Bank, Netherlands Institute for Neuroscience, Meibergdreef 9, Amsterdam, AZ, 1105, The Netherlands.
Epigenomics. 2022 Apr;14(7):375-390. doi: 10.2217/epi-2021-0523. Epub 2022 Mar 2.
To detect expression quantitative trait methylation (eQTM) loci within the cerebrum of prenatal Down syndrome (DS) and controls. 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. 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.
检测产前唐氏综合征（DS）患者和对照组大脑中的表达定量性状甲基化（eQTM）位点。DNA甲基化基因表达谱取自NeuN+细胞核，这些细胞核来自DS患者和对照组的大脑切片。对两个数据集都应用了线性回归模型，随后将其应用于综合分析模型以检测与DS相关的eQTM位点。在DS患者中观察到广泛的异常DNA甲基化和基因表达。根据先前报道的一项研究，大量差异甲基化位点得到了重复验证。随后的综合分析（eQTM）产生了许多与DS相关的位点。作者将DNA甲基化、基因表达和eQTM位点与DS联系起来，这些可能是特定DS表型特征的基础。
