Xu J, Zhang A, Zhang Z, Wang P, Qian Y, He L, Shi H, Xing Q, Du J
Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
NPFPC Laboratory of Contraception and Devices, Shanghai Institute of Planned Parenthood Research/Institute of Reproduction & Development, Fudan University, Shanghai, China.
Andrologia. 2016 Nov;48(9):939-947. doi: 10.1111/and.12535. Epub 2016 Jan 25.
Asthenozoospermia (AS) is a common cause of human male infertility. Recent studies have shown significant associations of aberrant DNA methylation in spermatozoa with male infertility. The aims of the this investigation were to assess the changes in DNA methylation of known imprinted genes (MEST, GNAS and H19), novel imprinted gene (FAM50B) and nonimprinted genes (LINE-1 and P16) DMRs in the spermatozoa of infertile men with single-factor AS. Semen samples were obtained from 46 AS patients and 49 age-matched normal controls. DNA methylation levels of detected genes DMR were determined by MassARRAY quantitative methylation analysis. The average methylation level at the P16 and MEST DMRs was significantly lower in AS patients than in controls (patients 6.51 ± 0.32%, controls 7.66 ± 0.40%, P < 0.01). The methylation level of 6 CpG sites of P16 DMR, and 1 CpG site of MEST, GNAS, FAM50B and LINE-1 DMRs, was lower in AS group than in control group. For the first time, the data presented here suggest that increased methylation defects of P16 DMR may be associated with low sperm motility. This study provides the potential association between low sperm motility infertile men and the aberrant DNA methylation of MEST, LINE-1, GNAS and FAM50B DMRs.
弱精子症（AS）是男性不育的常见原因。最近的研究表明，精子中异常的DNA甲基化与男性不育显著相关。本研究的目的是评估单因素AS不育男性精子中已知印记基因（MEST、GNAS和H19）、新印记基因（FAM50B）和非印记基因（LINE-1和P16）的DNA甲基化变化。从46例AS患者和49例年龄匹配的正常对照中获取精液样本。通过MassARRAY定量甲基化分析确定检测基因DMR的DNA甲基化水平。AS患者中P16和MEST DMR的平均甲基化水平显著低于对照组（患者6.51±0.32%，对照组7.66±0.40%，P<0.01）。AS组中P16 DMR的6个CpG位点以及MEST、GNAS、FAM50B和LINE-1 DMR的1个CpG位点的甲基化水平低于对照组。本文首次提出的数据表明，P16 DMR甲基化缺陷增加可能与精子活力低有关。本研究揭示了精子活力低的不育男性与MEST、LINE-1、GNAS和FAM50B DMR的异常DNA甲基化之间的潜在关联。
