Abstract
PurposeSingle-nucleotide polymorphisms (SNPs) in the p53 pathways have shown to play a role in endometrial receptivity and implantation in infertile women undergoing in vitro fertilization (IVF). The present study aimed to assess the influence of these gene variants over pregnancy success through a receptivity model in recipients of egg donation treatments, when factors such as age and quality of the oocytes are standardized.MethodsA nested case–control study was performed on 234 female patients undergoing their first fresh IVF treatment as recipients of donor oocytes. Genotyping of TP53 Arg72Pro (rs1042522), LIF (rs929271), MDM4 (rs1563828), and USP7 (rs1529916) SNPs in the recipients allowed comparison of allele and genotype frequencies and their association with the IVF treatment outcome.ResultsGrouped by genotypes, patients showed differences in IVF outcomes after the embryo transfer. Arg72Pro (rs1042522) gene variant was associated to changes in implantation and clinical pregnancy rates. The polymorphisms USP7 (rs1529916) and MDM4 (rs1563828) were associated to differential ongoing pregnancy rates and variable miscarriage events, respectively.ConclusionsThis study highlights the association between gene polymorphisms related to P53 function and their influence over IVF reproductive outcomes. Arg72Pro variant may influence early events, as lower implantation rates were found in homozygous for Pro72 allele. By contrast, MDM4 (rs1563828) and USP7 (rs1529916) gene variants were associated with the later maintenance of pregnancy.
Highlights
Pregnancy establishment requires important cellular and molecular changes through differentiation and proliferation processes [1]
Allelic and genotype frequency distribution for the studied gene variants did not vary between the group of patients and the reference population (Caucasian European 1000 Genomes, Phase 3 GRCh37, public data), and the only differences were observed for the Murine double minute 4 (MDM4) gene variant (Table 3)
The present study used a model based on donated oocytes to investigate the association between p53-related gene variants and the success of in vitro fertilization (IVF) treatments in women recipients of donor eggs
Summary
Pregnancy establishment requires important cellular and molecular changes through differentiation and proliferation processes [1]. Several biological processes supporting the embryo-maternal dialogue have been identified; the role of many interacting molecules and cells in the female reproductive tract during this critical process is still unknown, and it is not accessible for the clinical management in assisted reproduction technology (ART) treatments. Embryo implantation concerns a exceptional mechanism between two cellular entities with different genetic backgrounds and ontogenetic states, namely the trophoblast of the blastocyst and the epithelial endometrial cells of the uterine cavity, which interact synergistically for a common physiological purpose. The current research on the role of the endometrium in this synergy has focused mainly on its receptive potential. Journal of Assisted Reproduction and Genetics research has given some insights about transcriptomic and microbiological conditionants in the recipient that could impair the implantation of the embryo [2, 3]. Additional strategies approaching genetic variability, such as the investigation of mutations, could provide useful data to track relevant conditions limiting the intercommunication between the endometrium and the embryo, and these could be studied using noninvasive methods
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