Vitamin D receptor gene polymorphism in women with genital endometriosis, type 1 diabetes mellitus, and in the population
- Authors: Denisova A.1, Ivaschenko T.E.1, Yarmolinskaya M.I.2,3, Shagina A.A.4, Misharina E.V.1
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Affiliations:
- Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
- Research Institute of Obstetrics, Gynecology, and Reproductology named after D.O. Ott
- North-Western State Medical University named after I.I. Mechnikov
- Medical Genetic Diagnostic Center
- Issue: Vol 70, No 4 (2021)
- Pages: 25-33
- Section: Original Research
- URL: https://journals.rcsi.science/jowd/article/view/70796
- DOI: https://doi.org/10.17816/JOWD70796
- ID: 70796
Cite item
Abstract
AIM: The aim of this study was to analyze the association between the vitamin D receptor gene polymorphism and the risk of developing genital endometriosis and type 1 diabetes mellitus.
MATERIALS AND METHODS: The frequency of allelic variants of the VDR gene was studied by PCR-RFLP analysis in 282 women, including 129 patients with genital endometriosis (stages I–IV), 71 patients with type 1 diabetes mellitus, and 82 women of the control group represented by the population sample.
RESULTS: It was found that the frequency of the allele G polymorphic variant of rs1544410 (BsmI) in the VDR gene was significantly higher in the group of patients with genital endometriosis compared to the population sample (p = 0.048). Significant differences for the G / G genotype in patients with genital endometriosis relative to the control group (p < 0.05) and the group of patients with type 1 diabetes mellitus (p < 0.05) were revealed. According to the odds ratio, the risk of developing genital endometriosis was 1.9 times higher for this genotype (OR = 1.93 CI = 1.082–3.450; OR = 1.892 CI = 1.022–3.430). The combination of the A / A and G / A genotypes was significantly more common in patients with type 1 diabetes mellitus (p = 0.040) and in the population (p = 0.025), when compared to the patients with genital endometriosis. A significant increase in the t allele of the rs731236 polymorphism (TaqI) of the VDR gene was found in the group of patients with type 1 diabetes mellitus (p < 0.05). The combination of the T / t and t / t genotypes of the rs731236 polymorphism (TaqI) of the VDR gene in patients with type 1 diabetes mellitus were significantly more common than in the group of patients with genital endometriosis (p = 0.017).
CONCLUSIONS: The data obtained may be important for risk assessment of genital endometriosis and type 1 diabetes mellitus development and for developing new strategies for the prevention and treatment of these diseases.
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##article.viewOnOriginalSite##About the authors
Aleksandra Denisova
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: al.ser.denisova@gmail.com
ORCID iD: 0000-0003-3607-2420
MD
Russian Federation, 3 Mendeleevskaya Line, Saint Petersburg, 199034Tatyana E. Ivaschenko
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Email: tivashchenko2011@mail.ru
ORCID iD: 0000-0002-8549-6505
Scopus Author ID: 7004724202
Dr. Sci. (Biol.), Professor
Russian Federation, 3 Mendeleevskaya Line, Saint Petersburg, 199034Maria I. Yarmolinskaya
Research Institute of Obstetrics, Gynecology, and Reproductology named after D.O. Ott; North-Western State Medical University named after I.I. Mechnikov
Email: m.yarmolinskaya@gmail.com
ORCID iD: 0000-0002-6551-4147
SPIN-code: 3686-3605
Scopus Author ID: 7801562649
ResearcherId: P-2183-2014
MD, Dr. Sci. (Med.), Professor, Professor of the Russian Academy of Sciences
Russian Federation, Saint Petersburg; Saint PetersburgAnna A. Shagina
Medical Genetic Diagnostic Center
Email: zero_18@list.ru
ORCID iD: 0000-0002-2276-6803
MD
Russian Federation, Saint PetersburgElena V. Misharina
Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott
Author for correspondence.
Email: mishellena@gmail.com
ORCID iD: 0000-0002-0276-7112
MD, Cand. Sci. (Med.)
Russian Federation, 3 Mendeleevskaya Line, Saint Petersburg, 199034References
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