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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

The possible role of genetic variants in autoimmune-related genes in the development of endometriosis

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Author(s):
Bianco, Bianca [1] ; Andre, Gustavo M. [1] ; Vilarino, Fabia L. [1] ; Peluso, Carla [1] ; Mafra, Fernanda Abani [1] ; Christofolini, Denise M. [1] ; Barbosa, Caio P. [1]
Total Authors: 7
Affiliation:
[1] Fac Med ABC, Dept Gynecol & Obstet, Div Human Reprod & Genet, Santo Andre Sao Paulo - Brazil
Total Affiliations: 1
Document type: Journal article
Source: HUMAN IMMUNOLOGY; v. 73, n. 3, p. 306-315, MAR 2012.
Web of Science Citations: 31
Abstract

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. (C) 2012 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. (AU)

FAPESP's process: 11/11887-0 - Genetic variantes of TYKe gene as risk factor for endometriosis
Grantee:Bianca Alves Vieira Bianco
Support Opportunities: Regular Research Grants