Abstract:
Endometriosis, defined as the growth of endometrial-like tissue outside the uterine cavity,
affects approx. 10% of reproductive age women and about 50% of women with infertility. It
is often associated with chronic pelvic pain, dysmenorrhea, dysuria, dyspareunia and
menorrhagia. The exact etiology of endometriosis is still unknown although several
hypotheses have attempted to explain its development. The main hypotheses of the origins of
endometrial cells at ectopic sites include retrograde menstruation, coelomic metaplasia and
Müllerian remnants. Retrograde menstruation is regarded as an important origin.
Nevertheless, retrograde menstruation is commonly observed in >90% of healthy
menstruating women. Thus, other factors are clearly significant. Several factors including the
genetic profile, menstrual characteristics, reproductive history, Müllerian duct anomalies and
uterine growths, as well as the hormonal and metabolic environments have been suggested to
be involved in the onset of endometriosis. Genome-wide association studies (GWAS) have
until now, identified about 27 genomic regions significantly associated with endometriosis
risk. Functional studies are, however, required to identify the contribution of these genetic
variants to underlying biological pathways of endometriosis. Identification of endometriosis
risk factors will increase understanding of endometriosis pathogenesis and promote
development of non-invasive diagnostic methods and suitable endometriosis therapy.
