Endometriosis research in the -omics era

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.

Keywords: -Omics technologies; Biomarkers; Endometriosis.

Publication types

  • Review

MeSH terms

  • Biomarkers
  • Endometriosis / genetics*
  • Endometriosis / physiopathology
  • Female
  • Genome, Human / genetics
  • Genome-Wide Association Study
  • Genomics*
  • High-Throughput Screening Assays / methods
  • Humans
  • Metabolomics*
  • Proteomics*


  • Biomarkers