Division of Human Reproduction and Genetics, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo André/São Paulo, Brazil.
Hum Immunol. 2012 Mar;73(3):306-15. doi: 10.1016/j.humimm.2011.12.009. Epub 2011 Dec 11.
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.
已经提出了许多假说来解释异位子宫内膜组织和基质的存在。免疫系统参与了腹腔的内稳态，其功能的改变被认为是导致子宫内膜异位症及其后果的原因之一。最近，孕激素的强大抗炎作用被认为是子宫内膜异位症的一个潜在因果因素，并可能导致子宫内膜异位症的自身免疫性质，以及更特定的局部和全身变化。自身免疫和炎症性疾病是一组复杂的疾病，其特征是丧失自我耐受性，导致免疫介导的组织破坏。就像自身免疫性疾病一样，子宫内膜异位症也会发生类似的免疫改变，例如巨噬细胞数量和细胞毒性增加、B 淋巴细胞多克隆活性增加、B 和 T 淋巴细胞功能和浓度异常，以及自然杀伤细胞数量或活性减少。此外，在子宫内膜异位症和不孕中都发现了特异性抗子宫内膜和抗卵巢抗体。遗传因素在子宫内膜异位症的发病机制中起作用，因此自身免疫基因是子宫内膜异位症和与子宫内膜异位症相关的不孕的合理候选基因。单核苷酸多态性在人类基因组中很常见，会影响 T 细胞-抗原受体信号通路关键组成部分的功能；它们可能对免疫系统的功能产生深远影响，从而影响自身免疫性疾病的发展。在这里，我们对遗传变异在自身免疫相关基因中在子宫内膜异位症发展中的可能作用进行了批判性的医学文献回顾。
