Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Nat Commun. 2023 Jul 28;14(1):4544. doi: 10.1038/s41467-023-40285-y.
Opioid use disorder (OUD) is influenced by genetic and environmental factors. While recent research suggests epigenetic disturbances in OUD, this is mostly limited to DNA methylation (5mC). DNA hydroxymethylation (5hmC) has been widely understudied. We conducted a multi-omics profiling of OUD in a male cohort, integrating neuronal-specific 5mC and 5hmC as well as gene expression profiles from human postmortem orbitofrontal cortex (OUD = 12; non-OUD = 26). Single locus methylomic analysis and co-methylation analysis showed a higher number of OUD-associated genes and gene networks for 5hmC compared to 5mC; these were enriched for GPCR, Wnt, neurogenesis, and opioid signaling. 5hmC marks also showed a higher correlation with gene expression patterns and enriched for GWAS of psychiatric traits. Drug interaction analysis revealed interactions with opioid-related drugs, some used as OUD treatments. Our multi-omics findings suggest an important role of 5hmC and reveal loci epigenetically dysregulated in OFC neurons of individuals with OUD.
阿片类使用障碍 (OUD) 受遗传和环境因素的影响。虽然最近的研究表明 OUD 存在表观遗传紊乱,但这主要限于 DNA 甲基化 (5mC)。DNA 羟甲基化 (5hmC) 研究得很少。我们对一个男性队列中的 OUD 进行了多组学分析,整合了神经元特异性 5mC 和 5hmC 以及来自人类死后眶额皮质的基因表达谱 (OUD=12;非 OUD=26)。单基因座甲基组分析和共甲基化分析表明,与 5mC 相比,5hmC 与 OUD 相关的基因和基因网络数量更多;这些基因网络富集了 GPCR、Wnt、神经发生和阿片信号。5hmC 标记与基因表达模式的相关性也更高,并且与精神疾病特征的 GWAS 富集。药物相互作用分析显示与阿片类相关药物的相互作用,其中一些药物用于治疗 OUD。我们的多组学研究结果表明 5hmC 具有重要作用,并揭示了 OUD 个体眶额皮质神经元中表观遗传失调的基因座。