Relevance of sperm imprinted gene methylation on assisted reproductive technique outcomes and pregnancy loss: a systematic review

Recent evidence suggests that gamete-imprinted genes play a role in embryo and placenta development and growth. This systematic review aimed to evaluate whether altered methylation of sperm-imprinted genes associates with sperm DNA fragmentation (SDF), pregnancy loss rate and assisted reproductive t...

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Bibliographic Details
Published in:Systems biology in reproductive medicine 2021-07, Vol.67 (4), p.251-259
Main Authors: Cannarella, Rossella, Crafa, Andrea, Condorelli, Rosita A., Mongioì, Laura M., La Vignera, Sandro, Calogero, Aldo E.
Format: Article
Language:English
Subjects:
Abortion, Habitual - genetics
assisted reproductive techniques
DNA fragmentation
DNA Methylation
Female
Genomic Imprinting
gtl2
Humans
Imprinting
infertility
KCNQ1 Potassium Channel - genetics
KCNQ1 Potassium Channel - metabolism
Male
miscarriage
Pregnancy
recurrent pregnancy loss
Reproductive Techniques, Assisted
RNA, Long Noncoding - metabolism
Spermatozoa - metabolism
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Summary:Recent evidence suggests that gamete-imprinted genes play a role in embryo and placenta development and growth. This systematic review aimed to evaluate whether altered methylation of sperm-imprinted genes associates with sperm DNA fragmentation (SDF), pregnancy loss rate and assisted reproductive technique (ART) outcome. To accomplish this, Pubmed, MEDLINE, Cochrane, Academic One Files, Google Scholar, and Scopus databases were used for search strategy from each database inception until December 2020. Specific keywords were used. Studies satisfying the PECOS (Population, Exposure, Comparison/Comparator, Outcomes, Study design) model were retrieved. Ten studies could be included in the qualitative analysis. A significant association was reported between increased SDF rate and aberrant methylation of H19/IGF2 and KCNQ1 genes by two studies. A significantly lower H19 methylation was found in patients with idiopathic recurrent pregnancy loss (RPL) and in infertile patients compared to fertile men. Methylation of GLT2, PEG1/MEST, and ZAC/PLACL1 were similar in patients with RPL and controls. The ART outcome was similar in patients with aberrant and normal methylation of H19, SNRPN, KCNQ1OT1, PEG1/MEST, LIT1, PEG3, NESPAS, and GLT2. By contrast, a study showed an association between altered GLT2 methylation and more inferior ART results. If further confirmed by well-sized studies, these data might be helpful to identify possible epigenetic predictors of ART outcome. Particularly, aberrant methylation of H19/IGF2 and KCNQ1 genes might represent interesting targets that deserve further investigation.
ISSN:1939-6368
1939-6376
DOI:10.1080/19396368.2021.1909667