Association of TP53 Arg72Pro polymorphism and recurrent pregnancy loss

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Κατεύθυνση Αναπαραγωγική-Αναγεννητική Ιατρική
Library of the School of Health Sciences
Deposit date:
Dedousi Dimitra
Supervisors info:
Δρακάκης Πέτρος, Καθηγητής, Ιατρική, ΕΚΠΑ
Ντόμαλη Αικατερίνη, Επίκουρη Καθηγήτρια, Ιατρική, ΕΚΠΑ
Μαυρογιάννη Δέσποινα, Εργαστηριακό Διδακτικό Προσωπικό (ΕΔΙΠ), Ιατρική, ΕΚΠΑ
Original Title:
Μελέτη του πολυμορφισμού Arg72Pro στο γονίδιο TP53 σε γυναίκες με καθ' έξιν αποβολές
Translated title:
Association of TP53 Arg72Pro polymorphism and recurrent pregnancy loss
Recurrent miscarriages are a major reproductive issue affecting 1-5% of couples of reproductive age. According to the most recent definition of the European Community of Human Reproduction and Embryology (ESHRE, 2017), recurrent miscarriages is defined as the loss of two or more consecutive pregnancies before the 24th week of pregnancy. Various factors have been implicated for their occurrence, such as anatomical uterus abnormalities, hormonal disorders, genetic or immunological causes, certain infections of the female reproductive system or even environmental factors. However, the causes of recurrent miscarriages remain unclear in 50% of cases. Polymorphisms have been suggested as potential causative agents of idiopathic recurrent miscarriages.
In this study, the association of single nucleotide polymorphism at codon 72 of the TP53 (Arg72pro) gene with recurrent miscarriages was studied. Arg72Pro polymorphism as well as the critical role of the TP53 gene in reproduction have been of particular interest and have been researched in recent years. Specifically, studies have shown that homozygous women for the Pro / Pro genotype as well as heterozygous women with the Arg / Pro genotype have an increased risk of recurrent miscarriage than the homozygous for the Arg / Arg genotype. The occurrence of recurrent miscarriages in women bearing the allele for proline is probably due to the reduced ability of this allele to induce cell apoptosis as well as disorders caused to placental structure and circulation.
Our results showed that there is a statistically significant association between Arg72Pro polymorphism and the occurrence of recurrent miscarriages in the population studied. These results are particularly encouraging as they are in line with relevant research data and support the hypothesis that Arg72Pro polymorphism could be a causative factor for recurrent miscarriages. Summing up, it is advisable to carry out additional research on the association between this polymorphism and the occurrence of recurrent miscarriages in populations of other nationalities, in order to substantiate Arg72Pro polymorphism as a risk factor for recurrent miscarriages and to develop a genetic profile, which characterizes the unique genetic identity of each woman.
Main subject category:
Health Sciences
Recurrent, Pregnancy, Loss, Miscarriages, Gene TP53, Polymorphism, Codon 72
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