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Genetic Polymorphism in Endometriosis: Trends in Scientific Production

Author(s): Maria Gabriela Machado Junqueira, Amanda Fernandes Costa, Felipe de Araújo Nascimento, Kátia Karina Verolli de Oliveira Moura, Flávia Melo Rodrigues

Endometriosis is characterized by the presence of endometrial tissue located outside the uterine cavity. The prevalence is around 6 to 10%. Regarding etiopathogenesis, several theories are accepted, but alterations in the molecular biology of the endometrium seem to be fundamental for the development of endometriosis. Women with the disease may be asymptomatic or have complaints of dysmenorrhea, dyspareunia, chronic pelvic pain and / or infertility. Although the definitive diagnosis requires a surgical intervention, preferably by video laparoscopy, several findings in the physical, imaging and laboratory examinations can already predict, with a high degree of reliability, that the patient presents endometriosis. Polymorphism analysis has contributed to a better understanding of the genetics of endometriosis. The objective of this study was to characterize the scientific production of genetic polymorphisms in endometriosis until 2013 from a Scientometric perspective. For this, a bibliographic survey was performed on the Scopus site, using the words "polymorphism * genetic * AND endometriosis * molecular OR * marker * AND endometriosis *". It was analyzed the articles: type of publication, number of articles / year, authors, areas, journals, impact factor of the most published journals, among others. As a result, there was an increase in the number of publications on endometriosis and polymorphisms over the years, mainly in developed countries. It was observed a relevant association with infertility, ovarian cancer and endometrioma. Many studies have evaluated genes like GSTM1 and PROGINS.