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Genomic Variation as risk factor for the development and progression of endometriosis

Grant number: 12/22394-8
Support Opportunities:Scholarships in Brazil - Doctorate
Effective date (Start): March 01, 2013
Effective date (End): December 31, 2015
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Denise Maria Christofolini
Grantee:Fernanda Abani Mafra
Host Institution: Faculdade de Medicina do ABC (FMABC). Organização Social de Saúde. Fundação do ABC. Santo André , SP, Brazil
Associated scholarship(s):14/07136-8 - Genomic variations as risk factors for the development and progression of endometriosis, BE.EP.DR


Endometriosis is a chronic inflammatory disease and one of the most common benign gynecological diseases, being considered as a major cause of infertility and chronic pelvic pain in women. The disease is characterized as the presence of endometrial cells outside the uterine cavity, and can be installed in the peritoneum, rectovaginal septum, ovaries, bladder, uterosacral ligament among others.There are several theories to explain the development of endometriosis. Immunological theories suggest that changes in the immune system could prevent the ability to eliminate the endometrium which flows back into the pelvic cavity, since changes in T-cell mediated immunity could facilitate the implantation of endometrial fragments or cells in ectopic locations.The genetic causes of endometriosis are not yet completely understood. The disease is polygenic and influenced by environmental factors such as estrogen levels and lifestyle of women. Investigation of genetic markers and immune function related to reproductive and investigation of gene interactions have revealed an association between mutations and genetic polymorphisms, and the development of endometriosis in several studies, although the exact genetic profile that triggers the susceptibility to the development and progression of endometriosis is still unknown.Recently, a new class of gene mutations, CNV (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 C4 complement and CCL3L1 may be associated with the development of diseases that affect the immune system such as HIV, lupus erythematosus and rheumatoid arthritis and perhaps endometriosis .CNVs analysis requires the use of modern methods for assessment of genomic DNA as arrays, which allow for the analysis of multiple loci in genomic analysis of thousands of polymorphisms and hereby determining the copy number of genomic sequences.Furthermore, many patients with endometriosis treated at our facility, we have demonstrated the presence of any polymorphism of several genes studied, the disease may present with a yet unidentified mutation. One approach "Genome Wide" favor the investigation of these patients, indicating new loci associated with endometriosis.Thus, the introduction of new research strategies can help in better understanding of the genetic factors that lead to the development of endometriosis, its progression and association with pain and infertility.

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
MAFRA, FERNANDA; CATTO, MICHELE; BIANCO, BIANCA; BARBOSA, CAIO PARENTE; CHRISTOFOLINI, DENISE. Association of WNT4 polymorphisms with endometriosis in infertile patients. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, v. 32, n. 9, p. 1359-1364, . (13/14470-9, 12/22394-8)
MAFRA, FERNANDA; MAZZOTTI, DIEGO; PELLEGRINO, RENATA; BIANCO, BIANCA; BARBOSA, CAIO PARENTE; HAKONARSON, HAKON; CHRISTOFOLINI, DENISE. Copy number variation analysis reveals additional variants contributing to endometriosis development. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, v. 34, n. 1, p. 117-124, . (14/07136-8, 12/22394-8)
CHRISTOFOLINI, DENISE MARIA; MAFRA, FERNANDA ABANI; CATTO, MICHELLE CRISTINA; BIANCO, BIANCA; BARBOSA, CAIO PARENTE. New candidate genes associated to endometriosis. Gynecological Endocrinology, v. 35, n. 1, p. 62-65, . (14/07136-8, 12/22394-8)

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