Caracterização da produção científica sobre polimorfismo genético e endometriose

Abstract

Endometriosis is considered a chronic disease, mainly characterized by chronic pelvic pain and infertility. Your etiology remains unclear, though genetic factors such as single nucleotide polymorphisms may contribute to the development of endometriosis. Thus, this study aimed to characterize the scientific production about genetic polymorphism and endometriosis. A literature survey was conducted in PubMed using the terms “genetic polymorphism and endometriosis”. Inclusion criteria were: English, free full text and published in the last three years (2014‐2016). Items not directly related to the subject were excluded by reading the title or abstract, and review articles. 35 articles were identified and 14 were included in this review. There was a predominance of articles published in 2015 (50%), conducted in Brazil (43%) and most of them were published in journals with impact factor up to 2.5. There was heterogeneity in the investigated genes with a small emphasis on those classified as metabolic enzymes. Half of the researches associated the polymorphisms that were being investigated with endometriosis, indicating that they may be implicated in the pathogenesis of this disease. In conclusion, the scientific production is growing and it is significant on the role of genetic polymorphisms in the etiology of endometriosis.