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Genetic and Epigenetic Mechanisms of Endometral Reciptivity Disorder in Patients Born with Low Weight

Received: 5 June 2018    Accepted: 12 July 2018    Published: 7 August 2018
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Abstract

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.

Published in Journal of Gynecology and Obstetrics (Volume 6, Issue 4)
DOI 10.11648/j.jgo.20180604.11
Page(s) 71-79
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Endometrial Receptivity, "Thin" Endometrium, Genetic Regulation, Epigenetic Regulation, Low Birth Weight

References
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Cite This Article
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    Melkozerova Oxana Alexandrovna, Bashmakova Nadezda Vasilyevna, Tretyakova Tatyana Borisovna, Schedrina Irina Dmitrievna. (2018). Genetic and Epigenetic Mechanisms of Endometral Reciptivity Disorder in Patients Born with Low Weight. Journal of Gynecology and Obstetrics, 6(4), 71-79. https://doi.org/10.11648/j.jgo.20180604.11

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    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. J. Gynecol. Obstet. 2018, 6(4), 71-79. doi: 10.11648/j.jgo.20180604.11

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    AMA Style

    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. J Gynecol Obstet. 2018;6(4):71-79. doi: 10.11648/j.jgo.20180604.11

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  • @article{10.11648/j.jgo.20180604.11,
      author = {Melkozerova Oxana Alexandrovna and Bashmakova Nadezda Vasilyevna and Tretyakova Tatyana Borisovna and Schedrina Irina Dmitrievna},
      title = {Genetic and Epigenetic Mechanisms of Endometral Reciptivity Disorder in Patients Born with Low Weight},
      journal = {Journal of Gynecology and Obstetrics},
      volume = {6},
      number = {4},
      pages = {71-79},
      doi = {10.11648/j.jgo.20180604.11},
      url = {https://doi.org/10.11648/j.jgo.20180604.11},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.jgo.20180604.11},
      abstract = {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.},
     year = {2018}
    }
    

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  • TY  - JOUR
    T1  - Genetic and Epigenetic Mechanisms of Endometral Reciptivity Disorder in Patients Born with Low Weight
    AU  - Melkozerova Oxana Alexandrovna
    AU  - Bashmakova Nadezda Vasilyevna
    AU  - Tretyakova Tatyana Borisovna
    AU  - Schedrina Irina Dmitrievna
    Y1  - 2018/08/07
    PY  - 2018
    N1  - https://doi.org/10.11648/j.jgo.20180604.11
    DO  - 10.11648/j.jgo.20180604.11
    T2  - Journal of Gynecology and Obstetrics
    JF  - Journal of Gynecology and Obstetrics
    JO  - Journal of Gynecology and Obstetrics
    SP  - 71
    EP  - 79
    PB  - Science Publishing Group
    SN  - 2376-7820
    UR  - https://doi.org/10.11648/j.jgo.20180604.11
    AB  - 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.
    VL  - 6
    IS  - 4
    ER  - 

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Author Information
  • Department Reproductive Functions Preservation, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia

  • Scientific Administration, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia

  • Genetics Laboratory, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia

  • Department Reproductive Functions Preservation, Ural Research Institute of Maternity and Child Care, Ekaterinburg, Russia

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