Molecular Epidemiology, Faculty of Medicine & Health Technology, Tampere University, Arvo Ylpön katu 34, Tampere, 33520, Finland.
Gerontology Research Center, Tampere University, Tampere, 33014, Finland.
Epigenomics. 2022 Sep;14(18):1105-1124. doi: 10.2217/epi-2022-0228. Epub 2022 Oct 5.
The aim of this study was to characterize the methylation level of a polymorphically imprinted gene, /, in human populations and somatic tissues.48 datasets, consisting of more than 30 tissues and >30,000 individuals, were used. methylation status is associated with twin status and ethnic background, but the variation between populations is limited. Monozygotic twin pairs present concordant methylation, whereas ∼30% of dizygotic twin pairs present discordant methylation in the locus. The methylation levels of are uniform across somatic tissues, except in cerebellum and skeletal muscle. The imprint may be established in the oocyte, and, after implantation, the methylation status is stable, excluding a few specific tissues.
本研究旨在描述人类群体和体细胞组织中多态性印迹基因 / 的甲基化水平。使用了 48 个数据集,包括 30 多种组织和 >30000 个人。甲基化状态与双胞胎状态和种族背景有关,但人群之间的变异有限。同卵双胞胎的甲基化状态一致,而在 基因座,约 30%的异卵双胞胎的甲基化状态不一致。 除小脑和骨骼肌外, 在体组织中甲基化水平较为一致。 印迹可能在卵母细胞中建立,在植入后,甲基化状态稳定,除了一些特定的组织。