Abstract
Objectives: Despite the high incidence of endometriosis, the etiology is poorly understood. Much work has been carried out to elucidate the genetic basis of endometriosis owing to the advent of genomic analysis and new network-based analysis methods.
Methods: This article reviews the English literature for (epi)genome-wide profiling and association studies on the pathogenesis and pathophysiology of endometriosis.
Results: The characteristic 82 up- and 45 down-regulated unique genes in endometriosis included genes encoding cell cycle, growth factors, signal transduction, transcription factors, hormones, cytokines, chemokines and (pro)inflammation, proteases, cell adhesion and motility, stress response and detoxification, immune response, metabolism and others. There appear to be at least two types of genes: some genes (n = 50) may evolve mainly for the benefit of the endometrial growth, and the other genes (n = 55) evolve as a protective mechanism for the endometrial decidualization. The present review has shed new light on the overlapping genetic signatures between endometriosis development and decidualization process.
Conclusion: In conclusion, insufficient decidualization due to unbalancing epithelial-stromal genetic conflict may result in future endometriosis.