Genetic factors of early termination of pregnancy

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Abstract

Pregnancy loss and premature delivery are combined by the definition Premature Termination of Pregnancy, while these conditions affect up to 5% of women of reproductive age. In some cases, genetic components are both etiologic and pathogenetic factors of premature birth, however, This challenge is further complicated by the fact that extensive population-based genetic studies and subsequent validation of the data are required, especially in multi-ethnic populations.

Genome-wide studies will demonstrate polymorphic variants of hundreds of genes that are candidates for being associated with termination of pregnancy, including those regulating embryo implantation, pregnancy support, and immune system response. The review provides information about the genes and genetic polymorphisms that are involved in the regulation of the female reproductive system and associated with premature birth. A special role in the genetic mechanisms of miscarriage and/or preterm birth belongs to steroid hormone receptors, enzymes of the arachidonic acid metabolism, pro- and anti-inflammatory cytokines. However, the infectious factor takes the first place as a leading one, forming cause-and-effect relationships in the chain of pathogenetic links or giving modality to other factors. Most often, it is genetic polymorphisms associated with an over-activity of the immune system that underlie premature termination of pregnancy.

Subsequent Investigation of the human genome, epigenome, and transcriptome helps to identify molecular mechanisms linked with preterm delivery and premature newborn clinical appearance in early and late neonatal life and even predict developmental outcomes. These data could be used to develop targeted interventions aimed at selecting the most effective individual treatment and rehabilitation plan. The data obtained in future studies could be used to develop for preconception care, targeted therapy and the most effective individual treatment plan.

Keywords: genetic polymorphism; miscarriage; over-active immune responses; premature birth; premature termination of pregnancy; transcriptome.

About the authors

Leila Sh. Tsechoeva

I.I. Dzhanelidze Saint Petersburg Research Institute of Emergency Medicine; Saint Petersburg State Pediatric Medical University

Email: doctor-leila@yandex.ru
SPIN-code: 9248-9806
Scopus Author ID: 300593

M.D., Ph.D. (Medicine), the Head of division of gynecology

Russian Federation, Saint Petersburg; Saint Petersburg

Elena I. Dementyeva

Saint Petersburg State Pediatric Medical University

Email: 02102005@bk.ru

M.D., doctor obstetrician-gynecologist

Russian Federation, Saint Petersburg

Margarita D. Leonova

Maternity Hospital N 13

Email: _margarita_@bk.ru
ORCID iD: 0000-0002-3813-2995
SPIN-code: 8158-4744
Scopus Author ID: 1064506

M.D., doctor obstetrician-gynecologist, the Head of the Maternity Department

Russian Federation, Saint Petersburg

Anton I. Poloskov

Military Medical Academy

Author for correspondence.
Email: a.i.poloskov@gmail.com
SPIN-code: 3465-2522
Scopus Author ID: 1089007

junior researcher of the department (Medical and Biological Research) of the Research Center

Russian Federation, Saint Petersburg

Yuliya V. Gavrichkova

City Mariinsky Hospital

Email: _ignatenkoiuliia@gmail.com

M.D., doctor obstetrician-gynecologist

Russian Federation, Saint Petersburg

Mariya V. Bardinova

Military Medical Academy

Email: mariabardinova@gmail.com

doctor obstetrician-gynecologist, obstetrics and gynecology clinic

Russian Federation, Saint Petersburg

Natalya I. Tapil'skaya

Ott Research institute of obstetrics, gynecology and reproductology

Email: tapnatalia@yandex.ru
ORCID iD: 0000-0001-5309-0087
SPIN-code: 3605-0413
Scopus Author ID: 167924

M.D., D.Sc. (Medicine), Professor, Professor of the Obstetrics and Gynecology Department, the Head of Reproductology Department

Russian Federation, Saint Petersburg

Pavel А. Slizhov

Military Medical Academy

Email: maidel@bk.ru
SPIN-code: 3626-6262
Scopus Author ID: 1072193

junior researcher of the Department (experimental medicine) of the Research Center

Russian Federation, Saint Petersburg

Ruslan I. Glushakov

Military Medical Academy

Email: glushakoffruslan@yandex.ru
ORCID iD: 0000-0002-0161-5977
SPIN-code: 6860-8990
Scopus Author ID: 621995

M.D., D.Sc. (Medicine), the Head of the Department (medical and biological research) of the Research Center

Russian Federation, Saint Petersburg

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