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在子宫内膜异位症中DNA甲基化作用的系统审查:当前的证据和前景

Bastien Ducreux^1,2, Catherine Patrat^1,3, Julie Firmin^1,3

¹Faculty of Medicine, Inserm U1016, Université de Paris Cité, 75014, Paris, France.

Clinical epigenetics

|February 22, 2025

概括

子宫内膜异位症的发病包括关键基因中的DNA甲基化变化. 识别这些表观遗传标记可以改善这种复杂疾病的诊断和治疗.

科学领域:

生殖生物学和表观遗传学.
妇科疾病的分子机制.

背景情况:

子宫内膜异位症有复杂的病因,遗传和表观遗传因素都有助于其发展.
基因甲基化是一种关键的表观遗传机制,被怀疑在子宫内膜异位症的发病过程中发挥着重要作用.
人们对子宫内膜异位症发病的精确分子基础仍然不完全了解.

研究的目的:

系统地审查关于子宫内膜异位症中DNA甲基化现有的文献.
在子宫内膜异位症患者中确定受DNA甲基化变化影响的特定基因和途径.
评估DNA甲基化作为子宫内膜异位症诊断和治疗开发的生物标志物的潜力.

主要方法:

使用PubMed和Web of Science进行了系统的文献审查,遵守PRISMA指南.
包括的研究分析了人类受试者确诊子宫内膜异位症的区域或全基因组DNA甲基化.
手动和人工智能驱动的审查员都进行了研究选择,使用纽卡斯尔-太华规模评估质量.

主要成果:

从955篇选的文章中,确定了70项相关研究.
子宫内膜异位症表现出多表观遗传特征,在信号通路 (例如,PI3K-Akt,Wnt,MAPK) 关键的基因中具有改变的DNA甲基化.
受影响的途径包括细胞增殖,分化,分裂,粘附,通信,发育,激素反应,亡,免疫,神经发生和癌症.

结论:

子宫内膜异位症与调节子宫内膜关键生物过程的基因中的DNA甲基化修饰有显著的关联,特别是在宫外组织中.
DNA甲基化是子宫内膜异位症发病的一个重要因素.
发现DNA甲基化生物标志物可以提高对子宫内膜异位症原因的理解,促进诊断,并指导新的治疗策略.

关键词:

生物标志物生物标志物通过DNA甲基化.子宫内膜异位症是什么?子宫内膜异位症是什么子宫内膜 (Endometrium) 是一个内膜.表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.病原发生和发病的过程.

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