子宫内膜异位症表观遗传学系统综述

Bronwyn S. Bedrick M.D., M.Sci. , Laura Courtright M.S.N., R.N. , Jiahui Zhang M.D. , Morgan Snow B.A. , Isabela Landsteiner Sampaio Amendola M.D. , Elisabeth Nylander M.Sc. , Kamaria Cayton-Vaught M.D. , James Segars M.D. , Bhuchitra Singh M.D., M.P.H., M.S., M.B.A.
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引用次数: 0

摘要

目标评估目前评估人类子宫内膜异位症表观遗传学的文献。证据综述根据《系统综述和元分析首选报告项目》指南,在 PubMed、EBSCOhost、Cochrane Library、Embase、Scopus 和 Web of Science Core Collection 中进行了系统综述。数据信息专家制定了全面的检索策略。纳入了截至 2023 年 1 月 15 日用英语发表的评估人类表观遗传学的观察性和干预性研究。两名审稿人独立筛选了评估表观遗传学在子宫内膜异位症中作用的研究。采用 Cochrane RoB 2.0 工具和纽卡斯尔-渥太华量表评估偏倚风险。结果我们共发现了18639项研究,其中57项被纳入,包括1623名子宫内膜异位症患者和1243名对照者。在纳入的 57 项研究中,50 项(88%)为病例对照研究,7 项(12%)为横断面研究。59%的研究来自亚洲,25%来自美洲,14%来自欧洲,2%来自非洲。乙酰化和甲基化是本综述集中讨论的两种主要的组蛋白修饰。因此,我们将研究分为以全基因组甲基化为重点的研究和以组蛋白乙酰化为重点的研究。一些研究发现子宫内膜异位症与高甲基化基因有关,包括 PGR-B、SF-1 和 RASSF1A。一些研究发现,HOXA10、COX-2、IL-12B 和 GATA6 等基因在子宫内膜异位症组织中的甲基化程度较低。在组蛋白修饰方面,多项研究报告称组蛋白 H3 和 H4 的乙酰化水平会影响与子宫内膜异位症相关的多个基因。结论多项研究报告称,子宫内膜活检组织与正常组织中特定基因的甲基化水平存在显著差异,这表明 DNA 甲基化可能在子宫内膜异位症组织基因型的调节中发挥重要作用。乙酰化和甲基化是导致子宫内膜异位组织基因表达差异的两种关键组蛋白修饰。57 项研究报告的基因表达改变可对细胞周期生长、细胞周期停滞和细胞凋亡产生直接影响,因此可能在子宫内膜异位症的发病机制中扮演重要角色。本综述让我们了解到,组蛋白修饰需要进一步研究,以评估其作为子宫内膜异位症潜在生物标志物和治疗靶点的作用。虽然报告了一些关键的相似之处,但研究结果之间也存在一些分歧,这可能是由于不同研究之间存在异质性。要验证子宫内膜异位症的表观遗传学变化,还需要进一步的标准化研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A systematic review of epigenetics of endometriosis

Objective

To assess the current literature evaluating the epigenetics of endometriosis in humans.

Evidence Review

A systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines within PubMed, EBSCOhost, Cochrane Library, Embase, Scopus, and Web of Science Core Collection. A comprehensive search strategy was developed by a data informationist. Observational and interventional studies assessing epigenetics in humans published in English up to January 15, 2023, were included. Two reviewers independently screened studies evaluating the role of epigenetics in endometriosis. The risk of bias was assessed using Cochrane RoB 2.0 tool and the Newcastle-Ottawa scale. Extracted data were analyzed descriptively.

Results

We identified 18,639 studies, of which 57 were included, comprising 1,623 patients with endometriosis and 1,243 controls. Among the 57 studies included, 50 (88%) were case-control studies, and 7 (12%) were cross-sectional. Fifty-nine percent of the studies were Asian, 25% were from America, 14% were European, and 2% were from Africa. Acetylation and methylation were the two main key histone modifications that were centered in this review. Accordingly, we classified the studies as those focusing on genome-wide methylation and those on histone acetylation. Several studies identified an association between endometriosis and hypermethylated genes, including the PGR-B, SF-1, and RASSF1A. The genes HOXA10, COX-2, IL-12B, and GATA6 were found to be hypomethylated in endometriotic tissue by several studies. In regard to histone modification, multiple studies reported that the acetylation levels of histones H3 and H4 affect multiple genes associated with endometriosis. In addition, HDAC2 was found to be elevated in patients with endometriosis in two studies.

Conclusion

Several studies reported a significant difference between specific genes’ methylation levels in endometrial biopsies and normal tissue, which suggests that DNA methylation may play an important role in the modulation of the genotype in endometriotic tissue. Acetylation and methylation are the two key histone modifications leading to differential gene expression in endometriotic tissues. The alterations in gene expression reported by the 57 studies can have direct implications on cell cycle growth, cell cycle arrest, and apoptosis and, therefore, might play a key role in the pathogenesis of endometriosis. This review offers insight into the fact that histone modifications need further research to evaluate their role as potential biomarkers and treatment targets for endometriosis. Although several key similarities were reported, there were some disagreements among the results, which might be attributable to the heterogeneity between studies. Further research with a more robust standardization is needed to validate the epigenetic changes in endometriosis.

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来源期刊
F&S reviews
F&S reviews Endocrinology, Diabetes and Metabolism, Obstetrics, Gynecology and Women's Health, Urology
CiteScore
3.70
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审稿时长
61 days
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