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Correlation of copy number variations of genomic sequences and endometriosis development

Abstract

Endometriosis is a painful chronic inflammation considered one of the most common benign gynecological diseases, and is among the main factors of female infertility.The investigation of genetic markers related to immune function, neuroendocrine and reproductive and research of gene interactions have revealed an association between genetic polymorphisms and development of endometriosis in several studies, although the exact genetic factor that triggers the susceptibility to the development and progression of endometriosis is still unknown. Theories suggest that immunological changes in the immune system would prevent the ability to remove the endometrium of the pelvic cavity, since changes in T cell-mediated immunity may facilitate the implantation of endometrial fragments or cells in ectopic locations. Recently, a new class of gene mutations, CNVs (copy number variation), has been shown to be important in the development of autoimmune diseases. It is observed that the presence of copies more or less of certain gene segments as the complement C4 and CCL3L1 may be associated with the development of diseases affecting the immune system such as HIV, systemic lupus erythematosus and rheumatoid arthritis. This type of change requires the use of modern methods for evaluation of DNA that can be observed. Thus, the introduction of new research strategies can help in better understanding the genetic factors that lead to the development of endometriosis, its progression and association with pain and infertility. (AU)

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