Comparative Medicine Section, National Institute on Aging-Intramural Research Program, National Institutes of Health, Baltimore, Maryland, USA.
Laboratory of Molecular Biology and Immunology, National Institute on Aging-Intramural Research Program, National Institutes of Health, Baltimore, Maryland, USA.
J Gerontol A Biol Sci Med Sci. 2022 May 5;77(5):956-963. doi: 10.1093/gerona/glab328.
Age-dependent differences in methylation at specific cytosine-guanine (CpG) sites have been used in "epigenetic clock" formulas to predict age. Deviations of epigenetic age from chronological age are informative of health status and are associated with adverse health outcomes, including mortality. In most cases, epigenetic clocks are performed on methylation from DNA extracted from circulating blood cells. However, the effect of neoplastic cells in the circulation on estimation and interpretation of epigenetic clocks is not well understood. Here, we explored this using Fischer 344 (F344) rats, a strain that often develops large granular lymphocyte leukemia (LGLL). We found clear histological markers of LGLL pathology in the spleens and livers of 27 out of 61 rats aged 17-27 months. We assessed DNA methylation by reduced representation bisulfite sequencing with coverage of 3 million cytosine residues. Although LGLL broadly increased DNA methylation variability, it did not change epigenetic aging. Despite this, the inclusion of rats with LGLL in clock training sets significantly altered predictor selection probability at 83 of 121 commonly utilized CpG sites. Furthermore, models trained on rat samples that included individuals with LGLL had greater absolute age error than those trained exclusively rats free of LGLL (39% increase; p < .0001). We conclude that the epigenetic signals for aging and LGLL are distinct, such that LGLL assessment is not necessary for valid measures of epigenetic age in F344 rats. The precision and architecture of constructed epigenetic clock formulas, however, can be influenced by the presence of neoplastic hematopoietic cells in training set populations.
年龄依赖的特定胞嘧啶-鸟嘌呤(CpG)位点的甲基化差异已被用于“表观遗传时钟”公式中,以预测年龄。表观遗传年龄与实际年龄的偏差可以反映健康状况,并与不良健康结果相关,包括死亡率。在大多数情况下,表观遗传时钟是基于从循环血细胞中提取的 DNA 的甲基化来进行的。然而,循环中的肿瘤细胞对表观遗传时钟的估计和解释的影响尚不清楚。在这里,我们使用 Fischer 344(F344)大鼠进行了研究,这种大鼠通常会发展出大颗粒淋巴细胞白血病(LGLL)。我们在 61 只 17-27 月龄的大鼠中发现了 27 只大鼠的脾脏和肝脏中有明确的 LGLL 病理学的组织学标志物。我们通过覆盖 300 万个胞嘧啶残基的简化代表性亚硫酸氢盐测序来评估 DNA 甲基化。尽管 LGLL 广泛增加了 DNA 甲基化的可变性,但它并没有改变表观遗传衰老。尽管如此,将患有 LGLL 的大鼠纳入时钟训练集,显著改变了 121 个常用 CpG 位点中的 83 个预测因子的选择概率。此外,在包括患有 LGLL 的个体的大鼠样本上训练的模型的绝对年龄误差大于仅在无 LGLL 的大鼠上训练的模型(增加 39%;p <.0001)。我们的结论是,衰老和 LGLL 的表观遗传信号是不同的,因此在 F344 大鼠中,LGLL 的评估对于表观遗传年龄的有效测量是不必要的。然而,训练集人群中存在肿瘤性造血细胞会影响构建的表观遗传时钟公式的精度和架构。