Purpose

To synthesise data from genome-wide studies reporting molecular signature of eutopic endometrium through the phases of the menstrual cycle in endometriosis.

Methods

Extraction of data from publications reporting genetic signatures characterising endometrium associated with endometriosis. The nomenclature of extracted differentially expressed transcripts and proteins was adopted according to the HUGO Gene Nomenclature Committee (HGNC). Loci were further sorted according to the different phases of the menstrual cycle, i.e. menstrual (M), proliferative (P), secretory (S), early-secretory (ES), mid-secretory (MS), late-secretory (LS), and not specified (N/S) if the endometrial dating was not available. Enrichment analysis was performed using the DAVID bioinformatics tool.

Results

Altered molecular changes were reported by 21 studies, including 13 performed at the transcriptomic, 6 at proteomic, and 2 at epigenomic level. Extracted data resulted in a catalogue of total 670 genetic causes with available 591 official gene symbols, i.e. M = 3, P = 188, S = 81, ES = 82, MS = 173, LS = 36, and N/S = 28. Enriched pathways included oestrogen signalling pathway, extracellular matrix organization, and endothelial cell chemotaxis. Our study revealed that knowledge of endometrium biology in endometriosis is fragmented due to heterogeneity of published data. However, 15 genes reported as dysregulated by at least two studies within the same phase and 33 significantly enriched GO-BP terms/KEGG pathways associated with different phases of the menstrual cycle were identified.

Conclusions

A multi-omics insight into molecular patterns underlying endometriosis could contribute towards identification of endometrial pathological mechanisms that impact fertility capacities of women with endometriosis.

中文翻译：

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基于多组学综合合成的子宫内膜异位症在位子宫内膜的分子特征。

 目的

综合全基因组研究的数据，报告子宫内膜异位症月经周期各阶段在位子宫内膜的分子特征。

 方法

从报告表征与子宫内膜异位症相关的子宫内膜的遗传特征的出版物中提取数据。提取的差异表达转录本和蛋白质的命名根据HUGO基因命名委员会（HGNC）采用。根据月经周期的不同阶段进一步对基因座进行排序，即月经期（M）、增殖期（P）、分泌期（S）、分泌早期（ES）、分泌中期（MS）、分泌晚期（LS） ，如果子宫内膜测年不可用，则未指定 (N/S)。使用 DAVID 生物信息学工具进行富集分析。

 结果

21 项研究报告了分子变化的改变，其中 13 项在转录组水平进行，6 项在蛋白质组水平进行，2 项在表观基因组水平进行。提取的数据产生了总共 670 个遗传原因的目录，其中包含 591 个官方基因符号，即 M = 3、P = 188、S = 81、ES = 82、MS = 173、LS = 36 和 N/S = 28。丰富的途径包括雌激素信号传导途径、细胞外基质组织和内皮细胞趋化性。我们的研究表明，由于已发表数据的异质性，子宫内膜异位症的子宫内膜生物学知识是支离破碎的。然而，至少两项同一时期的研究报告称，有 15 个基因失调，并且鉴定出 33 个与月经周期不同阶段相关的显着富集的 GO-BP 术语/KEGG 通路。

 结论

对子宫内膜异位症分子模式的多组学洞察可能有助于确定影响子宫内膜异位症女性生育能力的子宫内膜病理机制。