Shetty Amol C, Verma Angela, Sivinski John, Fan X, Doty Carolyn, Hollander Brooke, Roche Daniel, Seneviratne Chamindi
Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD.
Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY.
bioRxiv. 2025 May 27:2025.05.21.655347. doi: 10.1101/2025.05.21.655347.
Alcohol use disorder (AUD) is a complex condition with diverse molecular underpinnings. Chronic alcohol exposure is associated with alterations in both innate and adaptive immune cell populations that in turn contribute to AUD susceptibility and severity, suggesting a bidirectional gene-environment relationship. Yet, most clinical AUD studies of this system have relied on indirect measurement of immune function and/or assessment of only a small number of cell types or immune markers, approaches which cannot capture the immune system's inherent complexity and cellular heterogeneity. Therefore, in order to better characterize immune dysregulation in AUD, the goal of this study was to use single cell RNA sequencing (scRNA-seq) in peripheral blood mononuclear cells (PBMCs) to compare immune cell proportions and differential gene expression between individuals with AUD and healthy controls. Our findings highlight a distinct disproportionality of lymphocytes and monocytes in individuals with AUD and healthy controls as well as sex and dose-dependent alterations immune cell functional characteristics. These peripheral blood cell-type proportions and dose-dependent signatures of alcohol exposure may aid in developing more targeted and effective pharmacological interventions for AUD. Results also highlight the importance in including sex as a biological variable in AUD research, particularly when examining immune function.
酒精使用障碍(AUD)是一种具有多种分子基础的复杂病症。长期饮酒与先天性和适应性免疫细胞群体的改变有关,进而导致AUD的易感性和严重程度,提示基因与环境之间存在双向关系。然而,该系统的大多数临床AUD研究依赖于免疫功能的间接测量和/或仅对少数细胞类型或免疫标志物的评估,这些方法无法捕捉免疫系统固有的复杂性和细胞异质性。因此,为了更好地表征AUD中的免疫失调,本研究的目的是在外周血单核细胞(PBMC)中使用单细胞RNA测序(scRNA-seq),以比较AUD患者与健康对照之间的免疫细胞比例和差异基因表达。我们的研究结果突出了AUD患者与健康对照中淋巴细胞和单核细胞明显的不均衡,以及性别和剂量依赖性的免疫细胞功能特征改变。这些外周血细胞类型比例和酒精暴露的剂量依赖性特征可能有助于开发更具针对性和有效性的AUD药物干预措施。结果还突出了在AUD研究中纳入性别作为生物学变量的重要性,特别是在检查免疫功能时。