Associação entre polimorfismos em genes de micrornas e a suscetibilidade à síndrome dos ovários policísticos: uma revisão sistemática

Abstract

Introduction: Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder among women of reproductive age, and is the leading cause of anovulatory infertility. The diagnostic criteria for PCOS have been expanded over time, now including any combination of two of the three main features: oligomenorrhea, hyperandrogenism, and polycystic ovarian morphology on ultrasound. Despite the existence of widely used clinical criteria for the diagnosis of PCOS, such as the Rotterdam criteria, there are still no specific biomarkers that can accurately differentiate the form from healthy women. In this context, the identification of polymorphisms in microRNA (miRNA) genes, key regulatory molecules in gene expression, emerges as a promising area of study. Objective: To evaluate the genetic association between SNPs in miRNA genes and the risk of PCOS. Methodology: Studies were searched in the bibliographic databases PubMed, Embase, Web of Science and Scopus, using the PCC approach. Searches were conducted until September 2024. Results: The initial database search yielded a total of 75 studies. After removing 44 duplicates, 31 studies remained for title and abstract screening, of which 24 were excluded. Based on the inclusion criteria, 7 studies were selected for full-text review. After full-text eligibility assessment, 2 studies were excluded due to insufficient data. Consequently, 5 studies were included. Only miR-196a-2 rs11614913 (C/T) and miR-146a rs2910164 (C/G) were analyzed in more than one study. When comparing the two studies that analyzed the miR-196a-2 polymorphism, the TT genotype was more common in the case group of both articles, thus being associated with a greater susceptibility to this endocrine disease. The miR-146a rs2910164 (C/G) variant was the most frequent confirmed by the included studies, demonstrating a high frequency of the GG genotype in the case group, and a high frequency of the CC genotype in the control group. The most common overall quality score was 7/9. Important deficiencies occurred in the selection domain due to the representativeness of the cases. Conclusion: This systematic review reinforces the association between miRNA gene polymorphisms and susceptibility to PCOS. Although studies have shown the association of miRNAs with a higher risk for this endocrinopathy, the presence of a high risk of bias and methodological limitations indicate the need for further observational studies with more robust methodologies and large samples to confirm the findings and explore the potential of miRNAs as noninvasive biomarkers for the diagnosis and prognosis of PCOS