A Genome-Wide Survey of DNA Methylation Status in Whole Blood of Patients With Hidradenitis Suppurativa Suggests Systemic Immune Dysregulation and Systemic Disease Burden

IF 3.1 3区医学 Q1 DERMATOLOGY Experimental Dermatology Pub Date : 2025-02-19 DOI:10.1111/exd.70065

Marco Montoya, Radhika Khetani, Rebeca Martinez, Omkar Mayur, Julie Z. Yi, Jean S. McGee

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Abstract

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a significant systemic disease burden. In this study, we profiled and compared the DNA methylation patterns in whole blood of HS patients versus control subjects to identify associated genes and biological pathways enriched in HS patients that may explain the systemic immune dysregulation observed in these patients. Using the Illumina 850 methylation BeadChip array, we measured the genome-wide DNA methylation status of each subject and identified 16 variably methylated probes (VMPs) between control subjects and HS patients (p adj < 0.05). These VMPs were associated with genes that regulate immune responses (e.g. DEFB104B, GRAMD4) and drive the risk of malignancy (e.g. BCR, RNF4). Additionally, they annotated to downstream biological pathways that regulate both innate and adaptive immunity, including the interferon gamma signalling pathway. Taken together, our results suggest a potential role of epigenetics in regulating the expression of immune-regulatory/tumour suppressor genes in the systemic circulation of HS patients.

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对息肉性扁平苔癣患者全血 DNA 甲基化状态的全基因组调查表明了系统性免疫失调和系统性疾病负担

化脓性汗腺炎（HS）是一种慢性炎症性皮肤病，具有显著的全身性疾病负担。在这项研究中，我们分析并比较了HS患者与对照组全血中的DNA甲基化模式，以确定HS患者中富集的相关基因和生物学途径，这些基因和生物学途径可能解释这些患者中观察到的系统性免疫失调。使用Illumina 850甲基化头芯片阵列，我们测量了每个受试者的全基因组DNA甲基化状态，并在对照组和HS患者之间鉴定了16个可变甲基化探针（VMPs）（p adj < 0.05）。这些VMPs与调节免疫反应的基因（如DEFB104B、GRAMD4）和驱动恶性肿瘤风险的基因（如BCR、RNF4）相关。此外，他们还解释了调节先天免疫和适应性免疫的下游生物学途径，包括干扰素γ信号通路。综上所述，我们的研究结果表明表观遗传学在调节HS患者体循环中免疫调节/肿瘤抑制基因的表达方面具有潜在作用。

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来源期刊

Experimental Dermatology 医学-皮肤病学

CiteScore

6.70

自引率

5.60%

发文量

201

审稿时长

2 months

期刊介绍： Experimental Dermatology provides a vehicle for the rapid publication of innovative and definitive reports, letters to the editor and review articles covering all aspects of experimental dermatology. Preference is given to papers of immediate importance to other investigators, either by virtue of their new methodology, experimental data or new ideas. The essential criteria for publication are clarity, experimental soundness and novelty. Letters to the editor related to published reports may also be accepted, provided that they are short and scientifically relevant to the reports mentioned, in order to provide a continuing forum for discussion. Review articles represent a state-of-the-art overview and are invited by the editors.