**Author details**

*Molecular Bases of Endometriosis - The Integration Between Research and Clinical Practice*

patients with severe endometriosis.

endometriosis candidate genes.

**8. Conclusions**

tors or even adjuvants in the treatment of endometriosis.

studies, and their uses will be much more defined.

Regarding the immune response, the role of cytokines in the development of endometriosis [21–23] is highlighted, and elevated levels of several of them have been found in patients with endometriosis [23, 25]. The same group of investigators [24, 26] evaluated the levels of cytokines involved in the Th1 immune response patterns (interleukin (IL)-2, tumor necrosis factor (TNF)-alpha and interferon (IFN) and Th2 (IL-4 and IL-10) in patients with endometriosis (n = 65) and in those without the disease (n = 33). Podgaec et al. [24] observed elevation in IFNgamma and IL-10 levels in patients with endometriosis, evidencing the coexistence of both responses. However, when considering the ratio of cytokine levels to these responses, IL-4 and IL-10 predominated, thus reflecting a possible shift to the Th2 immune response component. In the subsequent study, 18 cytokine levels were associated with the clinical symptoms of endometriosis. Patients with endometriosis who had depth dyspareunia and infertility exhibited elevated levels of TNF-alpha and IL-2, respectively. These cytokines are related to the Th1 immune response, and almost 70% of the patients who presented these results exhibited deep endometriosis. The authors conclude that when specific clinical data are associated with elevated production of certain cytokines, there is a Th1 response pattern that may be associated with deep endometriosis. Induction of Th1 immune response was also reported by Fairbanks et al. [25], who showed elevated levels of IL-12 in

The contribution of environmental factors to the development of endometriosis was reviewed by Bellelis et al. [19] who related their influence and diet to the genetics of this disease. They concluded that the mechanism by which dioxin and its similes (2,3,7,8-tetrachlorodibenzo-p-dioxin/TCDD and polychlorinated biphenyls/ PCBs) act to alter endometrial physiology is uncertain and speculative. They also state that there is insufficient evidence regarding the use of diets as preventive fac-

The genetic and hereditary basis of endometriosis was evidenced in the study by Bellelis et al. [19] in which approximately 5.3% of the patients reported a firstdegree family history with a history of endometriosis. Familial aggregation, a high concordance rate in monozygotic twins, and a 4–7% risk for first-degree relatives support a contribution of genetic factors to the pathogenesis of this disease [14]. In this context, the identification of genetic variants or single nucleotide polymorphisms (SNPs), responsible for susceptibility to endometriosis, has been the subject of investigation in recent years [26–28]. Different classifications were proposed for

What are the objectives of the genetic study of individuals? There is a great interest of the medical community and also much concern of the lay press about the potential benefits and harms of genetic screening, gene therapy, and even the possibility of cloning individuals. The current use of genetic tests for the detection and treatment of endometriosis is still at an early stage, but very important. The determination of susceptibility markers will be increasingly explored in clinical

Still, it seems increasingly likely that major changes will occur over the next decade in how we evaluate and treat our patients. In particular, surgeons and clinicians will have the opportunity to use a number of new tests to predict the future appearance of endometriosis in patients still free of the disease. They may have the power to explore the best therapeutic modality for a particular patient according to their genetic makeup. And they will be able to more specifically target prevention

**4**

Giovana Aparecida Gonçalves

1 Federal University of São Paulo (UNIFESP), Brazil

2 Father Albino University Center (UNIFIPA), Brazil

\*Address all correspondence to: goncalves.giovana2@gmail.com

© 2019 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/ by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
