ArticleReproductive biology and endocrinology : RB&E2022
Poor semen parameters are associated with abnormal methylation of imprinted genes in sperm DNA.
Article in Reproductive biology and endocrinology : RB&E, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 27 citations in OpenAlex.
- Epigenetic effects of Qixiong Formula on sperm DNA methylation in a rat model of asthenozoospermia.Translational andrology and urology · 2025Article
- Sperm DNA methylation profiling in patients with Kallmann syndrome.Endocrine connections · 2025Article
- Sperm DNA fragmentation index did not associate with assisted reproductive outcomes: a cohort retrospective study of 5784 IVF/ICSI cycles.Journal of assisted reproduction and genetics · 2025Article
- DNA Methylation: A Key Regulator in Male and Female Reproductive Outcomes.Life (Basel, Switzerland) · 2025Review
- Protective effects of Spirulina platensis and phycocyanin on sperm quality, DNA integrity, and testicular tissue following oxidative stress in rats: An experimental study.International journal of reproductive biomedicine · 2025Article
- Review
- Exploring the Epigenetic Landscape of Spermatozoa: Impact of Oxidative Stress and Antioxidant Supplementation on DNA Methylation and Hydroxymethylation.Antioxidants (Basel, Switzerland) · 2024Article
- Male infertility is associated with differential DNA methylation signatures of the imprinted gene GNAS and the non-imprinted gene CEP41.Journal of assisted reproduction and genetics · 2024Article
- Investigating the impact of paternal age, paternal heat stress, and estimation of non-genetic paternal variance on dairy cow phenotype.Genetics, selection, evolution : GSE · 2024Article
- DNA methylation patterns in patients with asthenospermia and oligoasthenospermia.BMC genomics · 2024Article
- Sperm epigenetics and male infertility: unraveling the molecular puzzle.Human genomics · 2024Review
- Article
- Redox Imbalance in Male Infertility: From Empirical Antioxidant Therapy to Precision Medicine and Epigenetic Insights.Reproductive medicine and biologyReview
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundAltered sperm DNA methylation patterns of imprinted genes as well as certain spermatogenesis-related genes has been proposed as a possible mechanism of male subfertility. Some reports suggest that there is an elevated risk of congenital diseases, associated with imprinted genes, in children conceived via intra-cytoplasmic sperm injection, due to the involvement of spermatozoa with aberrant imprinted genes obtained from infertile men.
methodsIn this study, the DNA methylation status of the promoter regions of six imprinted genes, namely potassium voltage-gated channel subfamily Q member 1 (KCNQ1), maternally expressed gene 3 (MEG3), insulin-like growth factor 2 (IGF-2), KCNQ1 overlapping transcript 1 (KCNQ1OT1), mesoderm specific transcript (MEST), and paternally expressed gene 3 (PEG3), were detected by a next generation sequencing-based multiple methylation-specific polymerase chain reaction analysis of sperm samples obtained from 166 men who sought fertility evaluation in our Reproductive Medicine Center. Thereafter, the semen samples were classified into subgroups according to sperm motility and DNA integrity status.
resultsAs compared to the normozoospermic group, the samples of the asthenospermic group exhibited significant hypermethylation in two CpG sites of IGF-2 and significant hypomethylation in one CpG site of KCNQ1 as well as three CpG sites of MEST (P < 0.05). However, we did not observe any significant differences in the overall methylation levels of these six imprinted genes (P > 0.05). Additionally, we found that 111 of 323 CpG sites were hypomethylated in the group with DNA fragmentation index (DFI) ≥ 30% as compared to the group with DFI < 30% (P < 0.05). In this case, there were significant differences in the overall methylation levels of MEG3, IGF-2, MEST, and PEG3 (P < 0.05), but not in that of KCNQ1OT1 and KCNQ1 (P > 0.05). Hence, aberrant methylation patterns of imprinted genes were more prevalent in males with poor sperm quality, especially in those with severe sperm DNA damage.
conclusionIn conclusion, abnormal DNA methylation of some CpG sites of imprinted genes are associated with poor sperm quality, including asthenospermia and severe sperm DNA impairment.
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