Search for new mutations in candidate genes to development and progression of endometriosis through new generation sequencing

• Grant number: 17/01202-7
• Support Opportunities: Regular Research Grants
• Duration: July 01, 2017 - December 31, 2019
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Caio Parente Barbosa
• Grantee: Caio Parente Barbosa
• Host Institution: Centro Universitário Saúde ABC. Fundação do ABC. Santo André , SP, Brazil
• Associated researchers: Bianca Alves Vieira Bianco ; Denise Maria Christofolini

Abstract

Endometriosis is painful chronic inflammation which is 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 associations between genetic polymorphisms and the 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. Immunological theories suggest that changes in the immune system could prevent the ability to eliminate the endometrium of the pelvic cavity, since changes in T-cell mediated immunity could facilitate the implantation of endometrial fragments or cells in ectopic locations. Our research group has struggled in recent years in understanding factors associated with the presence of endometriosis in infertile women, as well as genetic factors associated with disease progression, through the investigation of polymorphisms already reported by other research groups in the world. We found several associations; however, there is still a large portion of the population that has none of the polymorphisms investigated. Since genetic mutations have regional characteristics, the introduction of new diagnostic strategies such as sequencing the complete genome of these patients may help in identifying new target genes that act in the development of endometriosis, its progression and association with pain and infertility in Brazilian women. Since there is no institution in the sequencer, this equipment could assist in the research of other groups from FMABC, other Universities from ABC region, contributing to scientific advancement in the ABC region. (AU)

Publicações científicas

(Referências obtidas automaticamente do Web of Science e do SciELO, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores)

BIANCA BIANCO; FLÁVIA ALTHEMAN LOUREIRO; CAMILA MARTINS TREVISAN; DENISE MARIA CHRISTOFOLINI; ANTONIO SIMONE LAGANÀ; CAIO PARENTE BARBOSA. Implication of FSHB rs10835638 variant in endometriosis in Brazilian women. Einstein (São Paulo), v. 21, 2023-10-27. (17/01202-7)

ANDRE, GUSTAVO MENDONCA; TREVISAN, CAMILA MARTINS; PEDRUZZI, ISABELA NACIONE; MARTINS FERNANDES, RAMON FELIX; OLIVEIRA, RENATO; CHRISTOFOLINI, DENISE MARIA; BIANCO, BIANCA; BARBOSA, CAIO PARENTE. The Impact of FSHR Gene Polymorphisms Ala307Thr and Asn680Ser in the Endometriosis Development. DNA AND CELL BIOLOGY, v. 37, n. 6, APR 2018. (17/01202-7, 16/25953-9)