Signorile Pietro G, Severino Anna, Santoro Massimo, Spyrou Maria, Viceconte Rosa, Baldi Alfonso
Fondazione Italiana Endometriosi, Rome, Italy.
Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome, Italy.
BMC Res Notes. 2018 Oct 11;11(1):722. doi: 10.1186/s13104-018-3836-1.
The pathogenesis of endometriosis is still mysterious, being retrograde menstruation and coelomic metaplasia the most accepted hypotheses. Recently, it has been proposed that endometriosis is caused by fine-tuning alterations of the female genital system development during the foetal life and that in utero exposition to endocrine disruptors can be one of the factors causing the disease, possibly acting on the methylation status of the genome. In this study, we have evaluated the methylation status of HOXA10 gene regulation regions in a cohort of 22 endometriosis patients respect to a control group of 6 healthy women.
The methylation study was carried out on three CpG islands, previously described hypermethylated in the endometrium of endometriosis patients and include 22 CpG sites, 21 CpG sites and 10 CpG sites, respectively identified through the online platform MethPrimer. The analysis did not find significant differences between patients with endometriosis and healthy control individuals. These results confirm previous studies on genome wide methylation analysis in endometriosis patients. Therefore, other epigenetically altered genes should be considered more related to the pathogenesis of endometriosis.
子宫内膜异位症的发病机制仍然不明，逆行月经和体腔化生是最被认可的假说。最近，有人提出子宫内膜异位症是由胎儿期女性生殖系统发育的微调改变引起的，子宫内暴露于内分泌干扰物可能是导致该疾病的因素之一，可能作用于基因组的甲基化状态。在本研究中，我们评估了22例子宫内膜异位症患者队列中HOXA10基因调控区域相对于6名健康女性对照组的甲基化状态。
甲基化研究在三个CpG岛上进行，先前描述这些岛在子宫内膜异位症患者的子宫内膜中发生高甲基化，分别通过在线平台MethPrimer鉴定出包含22个CpG位点、21个CpG位点和10个CpG位点。分析未发现子宫内膜异位症患者与健康对照个体之间存在显著差异。这些结果证实了先前关于子宫内膜异位症患者全基因组甲基化分析的研究。因此，应考虑其他表观遗传改变的基因与子宫内膜异位症的发病机制更相关。
