Vitamin D receptor gene polymorphism in women with genital endometriosis, type 1 diabetes mellitus, and in the population

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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.

作者简介

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

俄罗斯联邦, 3 Mendeleevskaya Line, Saint Petersburg, 199034

Tatyana Ivaschenko

Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

Email: tivashchenko2011@mail.ru
ORCID iD: 0000-0002-8549-6505
Scopus 作者 ID: 7004724202

Dr. Sci. (Biol.), Professor

俄罗斯联邦, 3 Mendeleevskaya Line, Saint Petersburg, 199034

Maria 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 代码: 3686-3605
Scopus 作者 ID: 7801562649
Researcher ID: P-2183-2014

MD, Dr. Sci. (Med.), Professor, Professor of the Russian Academy of Sciences

俄罗斯联邦, Saint Petersburg; Saint Petersburg

Anna Shagina

Medical Genetic Diagnostic Center

Email: zero_18@list.ru
ORCID iD: 0000-0002-2276-6803

MD

俄罗斯联邦, Saint Petersburg

Elena Misharina

Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott

编辑信件的主要联系方式.
Email: mishellena@gmail.com
ORCID iD: 0000-0002-0276-7112

MD, Cand. Sci. (Med.)

俄罗斯联邦, 3 Mendeleevskaya Line, Saint Petersburg, 199034

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2. Figure. Polymorphic variants and structure of the VDR gene: FokI, BsmI, ApaI, TaqI — sites for recognition of the corresponding restriction endonucleases

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