Institutes for Systems Genetics, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu, 610212, China.
Human Sperm Bank, Key Laboratory of Birth Defects & Related Diseases of Women & Children of Ministry of Education, West China Second University Hospital of Sichuan University, Chengdu, 610041, China.
Epigenomics. 2022 Aug;14(16):951-964. doi: 10.2217/epi-2022-0122. Epub 2022 Aug 25.
To investigate DNA methylation patterns in asthenozoospermic and normozoospermic sperm and to explore the potential roles of differential methylations in the etiology of the disease. The authors performed whole-genome bisulfite sequencing analysis between normozoospermic controls and asthenozoospermic individuals. The authors identified 238 significant differentially methylated regions. These differentially methylated regions were annotated to 114 protein-coding genes, with many genes showing associations with spermatogenesis, sperm motility etc. There are plenty of genomic regions exhibiting altered DNA methylation in asthenozoospermia, a number of which are located within or adjacent to sperm-related genes, suggesting novel methylation markers of asthenozoospermia and potential epigenetic regulation mechanisms through DNA methylation in the disease.
分析少弱精子症患者和正常精子人群的 DNA 甲基化模式，探讨差异甲基化在疾病发病机制中的潜在作用。
作者对正常精子对照组和少弱精子症患者进行全基因组亚硫酸氢盐测序分析。
作者发现了 238 个具有显著差异的甲基化区域。这些差异甲基化区域被注释到 114 个蛋白质编码基因，其中许多基因与精子发生、精子运动等有关。在少弱精子症中存在大量基因组区域的 DNA 甲基化改变，其中一些位于与精子相关的基因内部或附近，提示少弱精子症的新型甲基化标志物和潜在的通过 DNA 甲基化的疾病表观遗传调控机制。
