Progins (T2) Variant of the PGR Gene May Reduce the Esr1 Gene-Dependent Risk of Uterine Leiomyoma Development

Корнацька, А. Г.; Флаксемберг, М. А.; Чубей, Г. В.; Trokhymovych, O.V.; Fishchuk, Liliya; Medvedieva, Nataliia; Rossokha, Zoia

doi:10.26724/2079-8334-2021-2-76-58-63

Cited by 2 publications

(3 citation statements)

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“…виділяли із периферичної крові пацієнток за допомогою комерційного комплекту Quick-DNA Miniprep Plus Kit (Zymo Research, США). Варіанти гену PGR визначали із застосуванням алель специфічної полімеразної ланцюгової реакції, а для визначення варіантів гена ESR1 проводили полімеразну ланцюгову реакцію із подальшим рестрикційним аналізом за протоколами опублікованими раніше [9]. Продукти ампліфікації та рестрикційного аналізу візуалізували в агарозному гелі.…”

Section: матеріал і методи дослідженняunclassified

“…Продукти ампліфікації та рестрикційного аналізу візуалізували в агарозному гелі. В якості контролю використовували результати розподілу генотипів у клінічно здорових жінок зі збереженою репродуктивною функцією та відсутньою патологією органів жіночої репродуктивної системи отримані у попередніх дослідженнях [9,13].…”

Section: матеріал і методи дослідженняunclassified

“…Контрольні групи взято з літературних джерел інших досліджень: за Alu-інсерцією гену PGR (PROGINS) у дослідженні 2021 р. Корнацької А.Г. та співавт [9],. за поліморфізмом ESR1 (A351G rs9340799) -у праці Палійчук О.В.…”

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Genetic Aspects of Adverse Consequences of Pregnancy With Isthmic-Cervinal Insufficiency

ISMAILOV¹

2022

AAGU

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According to modern ideas, both physiological and pathological processes are the result of complex interactions of genetic and epigenetic factors. Among the publications of recent years, there are no studies on the connection of PROGINS and ESR1 gene polymorphisms or gene methylation with ICI and adverse pregnancy outcomes on its background, which prompted us to conduct research in this direction. The aim of the study. To assess the influence of genetic and eugenetic factors on adverse pregnancy outcomes in isthmic-cervical insufficiency (ICI). Research material and methods. comprehensively examined 20 pregnant women with ICI, the correction of which was carried out with the use of a cerclage (main group), in which 2 subgroups were distinguished: ICI1 - 10 women with ICI and an unfavorable end of pregnancy (miscarriage before 22 weeks of pregnancy in 4 women and premature birth in 6 patients ) and ICI2 – 20 patients in whom delivery was urgent (after 37 weeks). A molecular genetic analysis of PGR gene variants (Alu insertion), ESR1 (A351G, rs 9340799) and an epigenetic study of methylation of the promoter region of the estrogen receptor α (ESR1) gene was performed. The results. Loss of pregnancy and premature birth in ICI can be caused not only by a decrease in hormone levels, but also by a violation of hormonalreceptive relationships. The probability of genetic conditioning of disorders of receptive progesterone and estrogen mechanisms in patients with ICI has been established. The presence in a pregnant woman of the mutant T2 allele of the PGR polymorphism (Alu-insertion) and the combination of homozygous genotypes T2T2+ GG of the polymorphic variants of the PGR (Alu-insertion) and ESR1 (A351G rs9340799) genes can be markers of a high risk of adverse pregnancy termination in ICI. In addition, the change in gene expression can be caused by epigenetic disorders, namely gene methylation: hypermethylation of the promoter region of the estrogen receptor α (ESR1) gene was detected in 40% of women with ICI and pregnancy loss in the II trimester or premature birth, which is 4 times higher than the rate women with ICI and normal termination of pregnancy. Conclusions. Adverse pregnancy outcomes with ICI can be caused by genetic (presence of a mutant T2 allele of the PGR polymorphism and combinations of homozygous T2T2+ GG genotypes of polymorphic variants of the PGR Alu-insertion and ESR1 A351G genes) and epigenetic factors (hypermethylation of the promoter region of the estrogen receptor α ESR1 gene). However, these results are preliminary and require further indepth studies on larger data samples.

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Section: матеріал і методи дослідженняunclassified

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Genetic Aspects of Adverse Consequences of Pregnancy With Isthmic-Cervinal Insufficiency

ISMAILOV¹

2022

AAGU

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Clinical and genetic determinants of severe course of COVID-19 in pregnant women

Kaminskyi

Vorobey

Zhdanovych

et al. 2022

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Objectives: to determine the clinical and genetic determinants of the severe course of COVID-19 in pregnant women in order to identify a risk group and search for therapeutic targets.Materials and methods. 21 patients (group 1) with a severe course of COVID-19 who required intensive care in the Anesthesiology and Intensive Care Unit (AICU) and 126 pregnant women with moderate severity treated in the Infectious-Obstetrics Unit (IOCU) were examined (group 2). Genomic DNA for molecular genetic analysis of gene variants ACE (I/D, rs 4340), PGR (Alu insertion), ESR1 (A351G, rs 9340799), PON1 (C108T, rs 705379) was isolated from the peripheral blood of patients using a commercial Quick-DNA Miniprep Plus Kit (Zymo Research, USA). Variants of ACE and PGR genes were determined using allele-specific polymerase chain reaction; polymerase chain reaction followed by restriction analysis was used to determine ESR1 and PON1 gene variants.Results. Severe course of COVID-19 is observed in 18.2% of pregnant women, critical condition in 7.5%. A third of AICU patients are over 35 years old. Somatic anamnesis was complicated in 23.8% of patients; thyroid gland pathology (14.3%) and varicose disease (19.0%) prevailed. A significant factor in the severe course of COVID-19 is obesity of the III–IV degree in 28.5% cases. The severe course of the disease was associated with complications of pregnancy (oligohydramnios – 52.4%, ahydramnios – 14.3%, fetal growth retardation syndrome – 33.3%, circulatory disorders – 57.1%, fetal distress – 47.6%, preeclampsia – 14.3%), labor (caesarean section – 57.1%, premature birth – 28.6%), disorders of newborns state (asphyxia – 35.6%). These patients are characterized by anemia (58.7%), thrombocytopenia (23.8%), leukocytosis (33.3%), lymphopenia (90.5%), a shift of the leukocyte formula to the left (an increase of rod-nuclear leukocytes by 85.7%). There were significantly increased levels of transaminases: alanine aminotransferase in 47.6%, aspartate aminotransferase in 76.2%. Prothrombotic changes are indicated by a decrease in prothrombin time and activated partial thromboplastin time in 66.7%, which is confirmed by an increase in D-dimer in 85.7% of patients up to the maximum 15,000 ng/ml in 9.5% of women. An increase in inflammation markers (C-reactive protein and interleukin-6 in all AICU patients, procalcitonin in 66.7%) is a reflection of the destructive effect of inflammatory processes. The genetic determinants of the severe course of COVID-19 in pregnant women can be the ID genotype of the ACE I/D rs4340 polymorphism (81.0%), the T2/T2 PROGINS genotype (19.0%), the ESR1 A351G rs9340799 GG genotype (28.5%).Conclusions. The use of separate clinical, laboratory and genetic indicators in pregnant women with COVID-19 will contribute to the selection of the risk group of a coronavirus severe course and the determination of targets of therapeutic impact.

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Progins (T2) Variant of the PGR Gene May Reduce the Esr1 Gene-Dependent Risk of Uterine Leiomyoma Development

Cited by 2 publications

References 14 publications

Genetic Aspects of Adverse Consequences of Pregnancy With Isthmic-Cervinal Insufficiency

Genetic Aspects of Adverse Consequences of Pregnancy With Isthmic-Cervinal Insufficiency

Clinical and genetic determinants of severe course of COVID-19 in pregnant women

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