Spermatogenesis disturbance due to aberrant DNA methylation and its impact on fertility treatment

GTF2A1L基因启动子含有组织特异性差异甲基化区域（TDMR）的DNA甲基化位点。采用睾丸基因组DNA检测86例非梗阻性无精子症患者GTF 2A1L启动子区CpG岛的甲基化状态。根据组织学标准，86例患者中有17例精子生成不足。精子发生低下患者分为两个亚组：高甲基化组（HM，n=5）和低甲基化组（LM，n=12）。HM组与LM组之间GTF 2A1L TDMR甲基化率差异显著（P=0.0019），LM组GTF 2A1L表达显著高于HM组（P=0.023）。高TDMR甲基化与低GTF 2A1L基因表达水平相关。两组在精子回收、受精、妊娠和分娩率方面都表现出相对良好的结果。我们观察到异常的GTF 2A1L基因表达与受精率无关。

The GTF2A1L gene promoter contains the DNA methylation site of a tissue-specific differentially methylated region (TDMR). Eighty-six patients with non-obstructive azoospermia were assessedfor the DNA methylation state of CpG islands in the GTF2A1L promoter using testicular genomic DNA. Based on histological criteria, 17 of the 86 patients had hypospermatogenesis. Patients with hypospermatogenesis were divided into two subgroups: high DNA methylation(HM, n=5) and low DNA methylation (LM, n=12). The GTF2A1L TDMR methylation rate differed significantly between the HM and LM groups (P=0.0019), and GTF2A1L expression was significantly higher among the LM than in the HM patients (P=0.023). High TDMR methylation was correlated with low GTF2A1L gene expression levels. Both groups demonstrated relatively good outcomes with respect to sperm retrieval, fertilisation, pregnancy and childbirth rates. We observed that aberrant GTF2A1L gene expression was not correlated with fertilisation rates.