The role of epigenetics in male and female infertility

Introduction. Today, infertility is a global problem that affects about 48.5 million married couples worldwide. It has been suggested that epigenetic aberrations are of great importance for reproductive health, as they account for an interactive relationship between genomic landscape, interplay with gene environment and disease phenotype. A new understanding on etiology of complex non-Mendelian disease traits has aroused a growing interest in reproductive epigenetics.

Aim: to analyze available publications on epigenetic aspects of male and female infertility as well as nutrition-related risk factors.

Materials and Methods. There was conducted a search for publications in the electronic databases PubMed, Google Scholar and Library to be selected in accordance with PRISMA recommendations. All relevant articles published before November 2023 were included in this review. As a result of the search, there were extracted 530 publications from PubMed, 57 publications – from eLibrary and 23 publications – from Google Scholar. Duplicates and non-full-text article versions were excluded.

Results. Environmental factors play an important role in generation and maintenance of epigenetic marks. DNA methylation abnormalities can lower human fertility. Altered protamine level may affect epigenetic paternally transmitted DNA information. Long-term infertility is associated with a modified methylome in euploid blastocysts primarily affecting regulation of genomic imprinting. Both excess and deficiency of trace elements are associated with adverse pregnancy outcomes, similarly applied infertility.

Conclusion. Despite that epigenetic mechanisms, genes, nutrition and dietary supplements discussed here affect infertility, while a relevant recommended dose has not yet been determined, it was noted that such parameters may positively influence fertility. However, more comprehensive and longitudinal human studies are required to examine their relationship to male and female reproductive functions.

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