Research Center for Child Mental Development, University of Fukui, Fukui, Japan.
Division of Developmental Higher Brain Functions, United Graduate School of Child Development, Osaka University, Kanazawa University, Hamamatsu University School of Medicine, Chiba University, and University of Fukui, Osaka, Japan.
Transl Psychiatry. 2023 Feb 27;13(1):72. doi: 10.1038/s41398-023-02370-0.
Neuroepigenetics considers genetic sequences and the interplay with environmental influences to elucidate vulnerability risk for various neurological and psychiatric disorders. However, evaluating DNA methylation of brain tissue is challenging owing to the issue of tissue specificity. Consequently, peripheral surrogate tissues were used, resulting in limited progress compared with other epigenetic studies, such as cancer research. Therefore, we developed databases to establish correlations between the brain and peripheral tissues in the same individuals. Four tissues, resected brain tissue, blood, saliva, and buccal mucosa (buccal), were collected from 19 patients (aged 13-73 years) who underwent neurosurgery. Moreover, their genome-wide DNA methylation was assessed using the Infinium HumanMethylationEPIC BeadChip arrays to determine the cross-tissue correlation of each combination. These correlation analyses were conducted with all methylation sites and with variable CpGs, and with when these were adjusted for cellular proportions. For the averaged data for each CpG across individuals, the saliva-brain correlation (r = 0.90) was higher than that for blood-brain (r = 0.87) and buccal-brain (r = 0.88) comparisons. Among individual CpGs, blood had the highest proportion of CpGs correlated to the brain at nominally significant levels (19.0%), followed by saliva (14.4%) and buccal (9.8%). These results were similar to the previous IMAGE-CpG results; however, cross-database correlations of the correlation coefficients revealed a relatively low (brain vs. blood: r = 0.27, saliva: r = 0.18, and buccal: r = 0.24). To the best of our knowledge, this is the fifth study in the literature initiating the development of databases for correlations between the brain and peripheral tissues in the same individuals. We present the first database developed from an Asian population, specifically Japanese samples (AMAZE-CpG), which would contribute to interpreting individual epigenetic study results from various Asian populations.
神经表观遗传学考虑遗传序列与环境影响的相互作用，以阐明各种神经和精神疾病的易感性风险。然而，由于组织特异性问题，评估脑组织中的 DNA 甲基化具有挑战性。因此，使用了外周替代组织，与其他表观遗传学研究（如癌症研究）相比，进展有限。因此，我们开发了数据库来建立同一人群中大脑和外周组织之间的相关性。从 19 名接受神经外科手术的患者（年龄 13-73 岁）中收集了 4 种组织，即切除的脑组织、血液、唾液和口腔黏膜（口腔）。此外，使用 Infinium HumanMethylationEPIC BeadChip 阵列评估了他们的全基因组 DNA 甲基化，以确定每种组合的跨组织相关性。使用所有甲基化位点和可变 CpG 进行了这些相关性分析，并在这些分析中考虑了细胞比例的调整。对于每个 CpG 在个体中的平均数据，唾液与大脑的相关性（r=0.90）高于血液与大脑（r=0.87）和口腔与大脑（r=0.88）的相关性。在个体 CpG 中，血液中与大脑呈显著相关的 CpG 比例最高（19.0%），其次是唾液（14.4%）和口腔（9.8%）。这些结果与之前的 IMAGE-CpG 结果相似；然而，相关性系数的跨数据库相关性显示相对较低（大脑与血液：r=0.27，唾液：r=0.18，口腔：r=0.24）。据我们所知，这是文献中第五项在同一人群中启动大脑和外周组织相关性数据库开发的研究。我们提出了第一个来自亚洲人群（日本样本）的数据库，该数据库将有助于解释来自不同亚洲人群的个体表观遗传学研究结果。
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