Investigação de biomarcadores na infertilidade associada à endometriose: revisão sistemática

Abstract

Endometriosis is a multifactorial gynecological condition characterized by the abnormal growth of the endometrial stroma and one of the main symptoms is infertility. The relationship between these two variables is still unknown, but it is possible that genetic polymorphisms influence endometriosis associated with infertility. Thus, the aim of this study was to identify in the literature which polymorphisms are related to infertility in women with endometriosis. For this purpose, a search was performed in the Web of Science, CINAHL, PubMed, Scopus, and SciELO databases using the following descriptors: polymorphisms genetics and infertility and endometriosis, with no time limit. As inclusion criteria, studies available in full, in portuguese, english and spanish, were used. The exclusion criteria was not attend inclusion criteria. Data were compiled into tables and figures and the quality analysis of selected studies was performed using the Joanna Briggs Institute questionnaire. 386 articles were identified, and after applying the inclusion and exclusion criteria, 33 case-control studies were included in this review. Most of the published studies were conducted in Brazil (57.6%). There was a variation in the sample size, between 650 fertile women as a control group and 394 infertile women with endometriosis, and 18 fertile women and 17 infertile women as control and case groups, respectively. The most used genotyping techniques were allelic discrimination (42.4%) and PCR-RFLP (39.4%). Genes and their respective polymorphisms, which exhibited statistically significant values, were classified into three categories: related to metabolic/cellular processes, steroidogenesis and sex hormone receptors, inflammation and immune response. In summary, the results of these studies suggest that the polymorphisms rs882605 of MUC4 gene, rs16826658 of WNT4 gene, rs10953316 of MUC17 gene, rs10928050 of KAZN gene, rs1799889 of PAI-1 gene, (TA)n repeats of ESR1 gene, (CA)n repeats of ESR2 gene, rs605059 of HSD17B1 gene, rs743572 of CYP17A1 gene, insLQ of LHR gene, p.Ile49Ser of AMH gene, rs12700667 of NPVF/NFE2L3 gene, G1502A of LHβ gene, G + 1730A of ERβ gene, rs7528684 of FCRL3 gene, rs3761549 of FOXP3 gene and rs28362491 of NFKβ1 gene are implicated in the etiology of infertility in women with endometriosis.