White Julie D, Minto Melyssa S, Willis Caryn, Quach Bryan C, Han Shizhong, Tao Ran, Deep-Soboslay Amy, Zillich Lea, Witt Stephanie H, Spanagel Rainer, Hansson Anita C, Clark Shaunna L, van den Oord Edwin J C G, Hyde Thomas M, Mayfield R Dayne, Webb Bradley T, Johnson Eric O, Kleinman Joel E, Bierut Laura J, Hancock Dana B
GenOmics and Translational Research Center, RTI International, Research Triangle Park, North Carolina.
Lieber Institute for Brain Development, Baltimore, Maryland.
Biol Psychiatry Glob Open Sci. 2024 Aug 13;4(6):100375. doi: 10.1016/j.bpsgos.2024.100375. eCollection 2024 Nov.
Alcohol use disorder (AUD) has a profound public health impact. However, understanding of the molecular mechanisms that underlie the development and progression of AUD remains limited. Here, we investigated AUD-associated DNA methylation changes within and across 2 addiction-relevant brain regions, the nucleus accumbens and dorsolateral prefrontal cortex.
Illumina HumanMethylation EPIC array data from 119 decedents (61 cases, 58 controls) were analyzed using robust linear regression with adjustment for technical and biological variables. Associations were characterized using integrative analyses of public annotation data and published genetic and epigenetic studies. We also tested for brain region-shared and brain region-specific associations using mixed-effects modeling and assessed implications of these results using public gene expression data from human brain.
At a false discovery rate of ≤.05, we identified 105 unique AUD-associated CpGs (annotated to 120 genes) within and across brain regions. AUD-associated CpGs were enriched in histone marks that tag active promoters, and our strongest signals were specific to a single brain region. Some concordance was found between our results and those of earlier published alcohol use or dependence methylation studies. Of the 120 genes, 23 overlapped with previous genetic associations for substance use behaviors, some of which also overlapped with previous addiction-related methylation studies.
Our findings identify AUD-associated methylation signals and provide evidence of overlap with previous genetic and methylation studies. These signals may constitute predisposing genetic differences or robust methylation changes associated with AUD, although more work is needed to further disentangle the mechanisms that underlie these associations and their implications for AUD.
酒精使用障碍(AUD)对公众健康有深远影响。然而,对AUD发生和发展背后分子机制的理解仍然有限。在此,我们研究了与AUD相关的伏隔核和背外侧前额叶皮质这两个与成瘾相关脑区内部及之间的DNA甲基化变化。
使用稳健线性回归分析了来自119名死者(61例病例,58例对照)的Illumina HumanMethylation EPIC芯片数据,并对技术和生物学变量进行了调整。通过对公共注释数据以及已发表的遗传和表观遗传学研究进行综合分析来表征关联。我们还使用混合效应模型测试了脑区共享和脑区特异性关联,并使用来自人类大脑的公共基因表达数据评估了这些结果的意义。
在错误发现率≤0.05的情况下,我们在脑区内部及之间鉴定出105个与AUD相关的独特CpG(注释到120个基因)。与AUD相关的CpG在标记活跃启动子的组蛋白标记中富集,并且我们最强的信号是单个脑区特有的。我们的结果与早期发表的酒精使用或依赖甲基化研究结果之间存在一些一致性。在这120个基因中,有23个与先前物质使用行为的遗传关联重叠,其中一些也与先前成瘾相关的甲基化研究重叠。
我们的研究结果确定了与AUD相关的甲基化信号,并提供了与先前遗传和甲基化研究重叠的证据。这些信号可能构成与AUD相关的遗传易感性差异或强烈的甲基化变化,尽管需要更多工作来进一步厘清这些关联背后的机制及其对AUD的影响。