Section of Molecular Pathology and Human Genetics, Department of Internal Medicine School of Medicine, University of Crete, Heraklion, Greece.
Section of Molecular Pathology and Human Genetics, Department of Internal Medicine School of Medicine, University of Crete, Heraklion, Greece; Third Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Thessaloniki, Greece; Department of Obstetrics and Gynecology, Venizeleio and Pananio General Hospital of Heraklion, Heraklion, Greece.
Gene. 2020 May 30;741:144545. doi: 10.1016/j.gene.2020.144545. Epub 2020 Mar 9.
Endometriosis is a pathological condition extensively studied, but its pathogenesis is not completely understood, since its pathophysiology stems from a broad spectrum of environmental influences and genetic factors. Moreover, the nature of this condition is heterogeneous and includes different anatomical entities. Scientists actively pursue discovery of novel biomarkers in the hope of better identifying susceptible individuals in early stages of the disease. High-throughput technologies have substantially revolutionized medical research and, as a first step, the advent of genotyping arrays led to large-scale genome-wide association studies (GWAS) and enabled the assessment of global transcript levels, thus giving rise to integrative genetics. In this framework, comprehensive studies have been conducted at multiple biological levels by using the "omics" platforms, thus allowing to re-examine endometriosis at a greater degree of molecular resolution. -Omics technologies can detect and analyze hundreds of markers in the same experiment and their increasing use in the field of gynecology comes from an urgent need to find new diagnostic and therapeutic tools that improve the diagnosis of endometriosis and the efficacy of assisted reproductive techniques. Proteomics and metabolomics have been introduced recently into the every day methodology of researchers collaborating with gynecologists and, importantly, multi-omics approach is advantageous to gain insight of the total information that underlies endometriosis, compared to studies of any single -omics type. In this review, we expect to present multiple studies based on the high-throughput-omics technologies and to shed light in all considerable advantages that they may confer to a proper management of endometriosis.
子宫内膜异位症是一种广泛研究的病理状况,但它的发病机制尚未完全理解,因为它的病理生理学源于广泛的环境影响和遗传因素。此外,这种疾病的性质是异质的,包括不同的解剖实体。科学家们积极探索新的生物标志物,希望能够在疾病的早期更好地识别易感个体。高通量技术极大地推动了医学研究的发展,作为第一步,基因分型阵列的出现导致了大规模的全基因组关联研究(GWAS),并能够评估全球转录水平,从而产生了综合遗传学。在这个框架内,通过使用“组学”平台在多个生物学水平上进行了综合研究,从而可以在更高的分子分辨率水平上重新检查子宫内膜异位症。-组学技术可以在同一个实验中检测和分析数百个标记物,它们在妇科领域的广泛应用源于寻找新的诊断和治疗工具的迫切需要,这些工具可以改善子宫内膜异位症的诊断和辅助生殖技术的疗效。蛋白质组学和代谢组学最近已被引入与妇科医生合作的研究人员的日常方法中,重要的是,与任何单一-组学类型的研究相比,多组学方法有利于深入了解子宫内膜异位症的基础总信息。在这篇综述中,我们希望展示基于高通量-组学技术的多项研究,并阐明它们可能为子宫内膜异位症的适当管理带来的所有优势。