Genetic and Epigenetic Mechanisms of Endometral Reciptivity Disorder in Patients Born with Low Weight
Journal of Gynecology and Obstetrics
Volume 6, Issue 4, July 2018, Pages: 71-79
Received: Jun. 5, 2018; Accepted: Jul. 12, 2018; Published: Aug. 7, 2018
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Melkozerova Oxana Alexandrovna, Department Reproductive Functions Preservation, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia
Bashmakova Nadezda Vasilyevna, Scientific Administration, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia
Tretyakova Tatyana Borisovna, Genetics Laboratory, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia
Schedrina Irina Dmitrievna, Department Reproductive Functions Preservation, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia
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The aim is to study genetic and intrauterine epigenetic mechanisms of endometrial receptivity disorders in patients with reproductive failures. 96 girls of adolescents with disturbed menstrual function as anomalous uterine bleeding (AUB PP) and 210 women of reproductive age, suffering from uterine infertility or miscarriage, due to "thin" endometrium were examined. All the patients were born on the deadline. Within the main cohorts, the patients were stratified according to their birth weight. Clinical anamnestic data and molecular genetic studies of polymorphic variants of sex steroids receptor genes, endothelial function regulation genes, angiogenesis and thrombophilia were analyzed using the "real-time" allele-specific polymerase chain reaction with melting curves of the amplification products using a set of reagents and protocols of the company Test Gen LTD (Russia). The risk of reproductive failures due to impaired receptivity of the endometrium is associated with the carrier of the polymorphic allele A of the VEGF2578C gene> A: for patients with infertility (OR = 2.73 (1.36-5.45), p = 0.01) and miscarriage OR = 4.61 (2.19-9.71), p = 0.01) and bearing the polymorphic allele 675 4G of the PAI-1 gene 675 5G> 4G: for patients with infertility (OR = 8.45 (3, 96-18,21), p = 0,001) and miscarriage (OR = 9.98 (4.61-21.74), p = 0.001). The carrier of polymorphism pVull-СС of the gene ESR1 397T> C is associated with an increased risk of disruption of the development of the menstrual function, manifested by abnormal uterine bleeding of the pubertal period (OR = 4.58 (0.97-21.68) p = 0.04), and the risk of developing in the reproductive age of miscarriage, caused by a "thin" endometrium (OR = 6.79 (1.94-23.75), p = 0.01). In women born with low weight, a significantly higher frequency of genotypes containing polymorphic allele 786C of the gene for endothelial NO-synthase NOS3 786 T> C was determined: for women with infertility OR = 6.173 (1.83-20.83); p = 0.001; for women with miscarriage OR = 4.902 (1.69-14.08); p = 0.002; for girls OR = 2.56 (1.01-6.50); p = 0.04. The genetic network containing the described variable alleles coordinates the pathological nature of the regulation of the endometrial function, which can lead to the formation of a "thin" non-receptive endometrium in response to traumatic injury.
Endometrial Receptivity, "Thin" Endometrium, Genetic Regulation, Epigenetic Regulation, Low Birth Weight
To cite this article
Melkozerova Oxana Alexandrovna, Bashmakova Nadezda Vasilyevna, Tretyakova Tatyana Borisovna, Schedrina Irina Dmitrievna, Genetic and Epigenetic Mechanisms of Endometral Reciptivity Disorder in Patients Born with Low Weight, Journal of Gynecology and Obstetrics. Vol. 6, No. 4, 2018, pp. 71-79. doi: 10.11648/j.jgo.20180604.11
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This article is an open access article distributed under the Creative Commons Attribution License ( which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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