Markers for fetal growth restriction based on the study of the polymorphism of gene regulatory regions
- Авторлар: Gasymova S.R.1, Tyutyunnik V.L.1, Kan N.E.1, Donnikov A.E.1, Borisova A.G.1
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Мекемелер:
- Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
- Шығарылым: № 11 (2024)
- Беттер: 76-82
- Бөлім: Original Articles
- URL: https://journals.rcsi.science/0300-9092/article/view/279264
- DOI: https://doi.org/10.18565/aig.2024.162
- ID: 279264
Дәйексөз келтіру
Ашық рұқсат
Рұқсат берілді
Тек жазылушылар үшін
Аннотация
Objective: To study variants of gene regulatory regions and identify potential markers of fetal growth restriction.
Materials and methods: This study involved the genetic analysis of polymorphic loci of genes associated with thrombophilia, prothrombotic states, folate cycle enzyme disorders, matrix metalloproteinases and their tissue inhibitors, interleukin-1 and-10, as well as laminin and estrogen receptor genes (F2, F5, F7, F13, FGB, ITGA2, ITGB3, PAI-1, MTHFR, MTR, MTRR, MMP9, MMP2, TIMP2, TIMP3, IL10, IL1B, LAMC1, and ESR1) in 110 pregnant women with fetal growth restriction and 272 control patients (without fetal growth restriction). Polymerase chain reaction was used to genotype single nucleotide polymorphisms. The functional effects of polymorphic loci were assessed using HaploReg (for epigenetic effects) and GTEx Portal (for association with gene expression) software.
Results: In the group with fetal growth restriction, the T allele of the polymorphic locus -1296 C>T [rs5749511] of TIMP3 was found to be significantly associated (OR=3.14 (95% CI 1.08–9.13), p=0.03), as was the G allele of the polymorphic locus MTR: 2756 A>G (Asp919Gly) (OR=2.18 (95% CI 1.15–4.13), p=0.02) compared to the control group. A rare allele of the F7 polymorphic locus, 10976 G>A (Arg353Gln), was found to be protective against the development of fetal growth restriction (OR=0.46 (95% CI 0.21–1.01), p=0.05). In the group with fetal growth restriction, accumulation of the rare G allele of the MTRR polymorphic locus: 66 A>G (Ile22Met) was observed; however, the differences with the control group did not reach statistical significance. A statistically significant association was found between the 4G variant of the -675 5G>4G polymorphic locus of the SERPINE1 (PAI-1) gene and early onset fetal growth restriction.
Conclusion: The results of this study suggest that polymorphisms in the regulatory regions of TIMP3, MTR, MTRR, and PAI-1 can be considered potential markers of the risk of fetal growth restriction.
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Толық мәтін
##article.viewOnOriginalSite##Авторлар туралы
Shagane Gasymova
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Хат алмасуға жауапты Автор.
Email: shagane2501@mail.ru
ORCID iD: 0009-0001-2626-6670
Junior Researcher at the Department of Fetal Medicine, Institute of Obstetrics, Diagnostic Medical Sonographer at the Department of Ultrasound and Functional Diagnostics, Obstetrician-Gynecologist, Academician
Ресей, 117997, Moscow, Ac. Oparin str., 4
Victor Tyutyunnik
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: tioutiounnik@mail.ru
ORCID iD: 0000-0002-5830-5099
SPIN-код: 1963-1359
Scopus Author ID: 56190621500
ResearcherId: B-2364-2015
Professor, Dr. Med. Sci., Leading Researcher at the Center for Scientific and Clinical Research
Ресей, 117997, Moscow, Ac. Oparin str., 4Natalia Kan
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: kan-med@mail.ru
ORCID iD: 0000-0001-5087-5946
SPIN-код: 5378-8437
Scopus Author ID: 57008835600
ResearcherId: B-2370-2015
Professor, Dr. Med. Sci., Deputy Director for Research
Ресей, 117997, Moscow, Ac. Oparin str., 4Andrey Donnikov
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: donnikov@dna-technology.ru
ORCID iD: 0000-0003-3504-2406
PhD, Head of the Laboratory of Molecular Genetic Methods
Ресей, 117997, Moscow, Ac. Oparin str., 4Anastasia Borisova
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of the Russian Federation
Email: vvv92@list.ru
ORCID iD: 0009-0004-5234-1584
PhD student
Ресей, 117997, Moscow, Ac. Oparin str., 4Әдебиет тізімі
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