The possible role of genetic variants in autoimmune-related genes in the development of endometriosis.
Numerous hypotheses have been put forward to explain the presence of ectopic endometrial tissue and stroma. The immune system participates in the homeostasis of the peritoneal cavity, and modifications in its functioning have been advanced to explain endometriosis and its consequences. Recently, the powerful anti-inflammatory effect of progesterone was recognized as a potential causal factor for endometriosis and could contribute to the autoimmune nature of endometriosis, as well as to more specific local and systemic changes. Autoimmune and inflammatory diseases are a diverse group of complex diseases characterized by loss of self-tolerance causing immune-mediated tissue destruction. Just as in autoimmune diseases, in endometriosis similar immunologic alterations occur, such as an increase in the number and cytotoxicity of macrophages, polyclonal increase in the activity of B lymphocytes, abnormalities in the functions and concentrations of B and T lymphocytes, and reduction in number or activity of natural killer cells. Furthermore, the presence of specific antiendometrial and antiovary antibodies was found both in endometriosis and infertility. Genetic factors play a role in the pathogenesis of endometriosis, and autoimmunity genes are therefore reasonable candidate genes for endometriosis and endometriosis-associated infertility. Single nucleotide polymorphisms are common in the human genome and affect the function of crucial components of the T-cell-antigen-receptor signaling pathways; they could have profound effects on the function of the immune system and thus on the development of autoimmune diseases. Here, we conducted a critical medical literature review about the possible role of genetic variants in autoimmune-related genes in the development of endometriosis.
Division of Human Reproduction and Genetics, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo André/São Paulo, Brazil. bianca.bianco@hotmail.com
Bianca
B
Bianco
Gustavo M
GM
André
Fábia L
FL
Vilarino
Carla
C
Peluso
Fernanda Abani
FA
Mafra
Denise M
DM
Christofolini
Caio P
CP
Barbosa
D000818:Animals; D001323:Autoantibodies / Q000378:metabolism; D015551:Autoimmunity / Q000235:genetics; D016207:Cytokines / Q000235:genetics; D004715:Endometriosis / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D005260:Female; D051858:Forkhead Transcription Factors / Q000378:metabolism; D056726:Genetic Association Studies; D006801:Humans; D008213:Lymphocyte Activation / Q000235:genetics; D008262:Macrophage Activation / Q000235:genetics; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D011971:Receptors, Immunologic / Q000235:genetics*; D050378:T-Lymphocytes, Regulatory / Q000276:immunology*
D001323:Autoantibodies; D016207:Cytokines; C457775:FCRL3 protein, human; C418974:FOXP3 protein, human; D051858:Forkhead Transcription Factors; D011971:Receptors, Immunologic; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22