Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Syst Biol Reprod Med. 2021 Aug;67(4):251-259. doi: 10.1080/19396368.2021.1909667. Epub 2021 Jun 3.
Recent evidence suggests that gamete-imprinted genes play a role in embryo and placenta development and growth. This systematic review aimed to evaluate whether altered methylation of sperm-imprinted genes associates with sperm DNA fragmentation (SDF), pregnancy loss rate and assisted reproductive technique (ART) outcome. To accomplish this, Pubmed, MEDLINE, Cochrane, Academic One Files, Google Scholar, and Scopus databases were used for search strategy from each database inception until December 2020. Specific keywords were used. Studies satisfying the PECOS (Population, Exposure, Comparison/Comparator, Outcomes, Study design) model were retrieved. Ten studies could be included in the qualitative analysis. A significant association was reported between increased SDF rate and aberrant methylation of / and genes by two studies. A significantly lower methylation was found in patients with idiopathic recurrent pregnancy loss (RPL) and in infertile patients compared to fertile men. Methylation of /, and / were similar in patients with RPL and controls. The ART outcome was similar in patients with aberrant and normal methylation of /, and . By contrast, a study showed an association between altered GLT2 methylation and more inferior ART results. If further confirmed by well-sized studies, these data might be helpful to identify possible epigenetic predictors of ART outcome. Particularly, aberrant methylation of and genes might represent interesting targets that deserve further investigation.
最近的证据表明,配子印迹基因在胚胎和胎盘发育和生长中发挥作用。本系统评价旨在评估精子印迹基因的甲基化改变是否与精子 DNA 碎片化 (SDF)、流产率和辅助生殖技术 (ART) 结局相关。为了实现这一目标,使用了 Pubmed、MEDLINE、Cochrane、Academic One Files、Google Scholar 和 Scopus 数据库,从每个数据库的创建到 2020 年 12 月进行了搜索策略。使用了特定的关键词。符合 PECOS(人群、暴露、比较/对照、结局、研究设计)模型的研究被检索到。可以对 10 项研究进行定性分析。两项研究报告称,SDF 率增加与 / 和 基因的异常甲基化之间存在显著关联。与正常生育的男性相比,特发性复发性流产 (RPL) 患者和不孕患者的 基因甲基化水平明显降低。RPL 患者和对照组的 / 、 / 基因甲基化水平相似。/ 、和 基因的异常甲基化与 ART 结局相似。相比之下,一项研究表明,GLT2 甲基化改变与更差的 ART 结果之间存在关联。如果进一步通过大规模研究得到证实,这些数据可能有助于确定 ART 结局的可能表观遗传预测因子。特别是,/ 和 基因的异常甲基化可能代表值得进一步研究的有趣靶点。