A wide range of molecules are involved in the successful embryo transfer both between and within cells. In the early peri-implantation period normal expression of TR53 signaling pathway genes is responsible for the ability to introduce the blastocyst into the endometrium and TP53 gene is also a regulator of oocyte quality and maturation.
OBJECTIVE
To determine the single nucleotide polymorphisms of TP53 signaling pathway genes: LIF rs41281637, LIF rs929271, MDM2 rs2279744; MDM4 rs1563828, TP53 rs1042522 in patients with primary and secondary infertility and benign endometrial processes.
MATERIAL AND METHODS
The study enrolled 71 female patients of reproductive age 22 to 48 years (mean age 34.8±4.2 years): Group 1 included 33 patients with primary infertility aged 26 to 42 years (mean age 33.4 years); Group 2 included 20 patients aged 22 to 48 years (mean age 36 years) with secondary infertility. Group 1 and 2 patients (n=53) had various benign endometrial diseases (polyps, endometrial hyperplasia, intrauterine synechias, chronic endometritis). The 3rd (control) group comprised 18 patients aged 27 to 45 years (mean age 35.5 years) with preserved childbearing function and the presence of similar benign endometrial diseases (polyps and endometrial hyperplasia). All the patients underwent standard clinical and laboratory examination, ultrasonic examination of the pelvic organs, surgical treatment with hysteroscopy, histological examination of endometrial tissue, and isolation of genomic DNA from endometrial tissue.
RESULTS
A study of gene polymorphism showed a minor allele G/G LIF rs41281637 (G/A) in the endometrial samples of all the patients in groups 1 and 2 (n=53) with infertility and 18 patients in the control group. In group 1 heterozygous MDM2 rs2279744 gene variant was identified in 22 (66%) patients, while weak or absent correlation between homozygous nucleotide polymorphisms of the same genes was noted in the group of patients with secondary infertility and the control group. The MDM4 gene polymorphism showed an association of the G/G variant with primary infertility and the A/A variant with secondary infertility; analysis of the TP53 gene polymorphism showed an association of the G/G allele with primary infertility and the C/G allele with secondary infertility. In the control group, the homozygous variant of the MDM2 rs2279744 (T/G) gene was detected in 61% of cases, the heterozygous variant of the TP53 rs1042522 (G/C) gene in 72%.
CONCLUSION
Inclusion of TP53 marker polymorphism markers in the endometrium of patients with infertility may considerably improve the quality of endometrial diagnosis and predict the reproductive potential realization.
