Analysis of the BsmI (rs1544410) polymorphism of the vitamin D receptor gene and the clinical effect of 25(OH)D level correction in a population of late postmenopausal women in Yekaterinburg


DOI: https://dx.doi.org/10.18565/therapy.2022.4.31-40

Izmozherova N.V., Popov A.A., Ryabinina A.V., Vikhareva А.A., Safianik E.A., Spevak A.V.

1) Ural State Medical University of the Ministry of Healthcare of Russia, Yekaterinburg; 2) Institute of High Temperature Electrochemistry of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg
Abstract. One of the most significant polymorphisms of the vitamin D receptor (VDR) gene that modulates the biological effects of this vitamin is the single nucleotide polymorphism BsmI (A>G) of the VDR gene.
Objective: to determine the possible genetic contribution to the pleiotropic effects of vitamin D3 after correction of serum 25(OH)D insufficiency and deficiency by loading and maintenance doses of cholecalciferol in postmenopausal women.
Material and methods. During the period from October 2018 to March 2020, 100 late postmenopausal patients were performed: diagnosis of comorbid pathology, molecular genetic study of the BsmI (A>G) polymorphism of the VDR gene by PCR-RT, evaluation of serum 25(OH)D level by the ECLIA method, assessment of modified menopausal index (MMI), mental status (MMSE scale), and quality of life (SF-36 questionnaire). To correct the level of 25(OH)D in the blood serum, an aqueous solution of cholecalciferol (Aquadetrim) was used in standard doses recommended by the Russian Association of Endocrinologists.
Results. The frequency distribution of the BsmI polymorphic marker genotypes of the VDR gene was 13, 47, and 40% for minor homozygote AA, heterozygote AG, and homozygote GG, respectively. Patients with the GG-genotype of the BsmI polymorphic marker of the VDR gene demonstrated lower values of the Charlson comorbidity index (p=0,042), severity of menopausal disorders (p=0,023) and higher quality of life scores for pain intensity that can limit daily activity (p=0,025) compared to patients with AA/AG genotypes. Women homozygous for the minor A allele demonstrated an increase in cognitive abilities according to the MMSE scale (p=0,001) and a decrease in the severity of psychoemotional disorders of the MMI (p=0,027) after the use of standard loading and maintenance doses of cholecalciferol.
Conclusion. A possible protective role of the G allele of the BsmI polymorphic marker of the VDR gene in relation to the Charlson comorbidity index, menopausal disorders, and quality of life in late postmenopausal patients has been demonstrated.
Keywords: vitamin D receptor gene, cholecalciferol, alleles, vitamin D deficiency, comorbidity, postmenopause
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About the Autors

Nadezhda V. Izmozherova, Dr. med. habil., associate professor, head of the Department of pharmacology and clinical pharmacology, Ural State Medical University of the Ministry of Healthcare of Russia. Adress: 620028, Yekaterinburg, 3 Repina Str. E-mail: nadezhda_izm@mail.ru. ORCID: https://orcid.org/0000-0001-7826-9657
Artem A. Popov, Dr. med. habil., associate professor, head of the Department of hospital therapy and emergency medicine, Ural State Medical University of the Ministry of Healthcare of Russia. Adress: 620028, Yekaterinburg,
3 Repina Str. E-mail: art_popov@mail.ru. ORCID: https://orcid.org/0000-0001-6216-2468
Alla V. Ryabinina, chief physician of the clinic of Institute of High Temperature Electrochemistry of the Ural Branch of the Russian Academy of Sciences. Address: 620990, г. Yekaterinburg, 20 Akademicheskaya Str. E-mail: Uroran1@sky.ru. ORCID: https://orcid.org/0000-0003-1536-8126
Anna A. Vikhareva, assistant at the Department of pharmacology and clinical pharmacology, Ural State Medical University of the Ministry of Healthcare of Russia. Adress: 620028, Yekaterinburg, 3 Repina Str. E-mail: anna1993vi@gmail.com. ORCID: https://orcid.org/0000-0002-5951-2110
Elena A. Safianik, senior lecturer of the Department of pharmacology and clinical pharmacology, Ural State Medical University of the Ministry of Healthcare of Russia. Adress: 620028, Yekaterinburg, 3 Repina Str. E-mail: gelenochka@yandex.ru. ORCID: https://orcid.org/0000-0002-4565-2366
Alena V. Spevak, postgraduate student of the Department of pharmacology and clinical pharmacology, Ural State Medical University of the Ministry of Healthcare of Russia. Adress: 620028, Yekaterinburg, 3 Repina Str.
E-mail: docspevak@gmail.com. ORCID: https://orcid.org/0000-0003-1110-6962


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