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Purpose of reviewVitamin D (vitD) can regulate metabolic pathways in adipose tissue and pancreatic β cells by interacting with its vitamin D receptor (VDR). The aim of this study was to review original publications published in the last months and verify the relationship between genetic variants in the VDR gene and type 2 diabetes (T2D), metabolic syndrome (MetS), overweight, and obesity.Recent findingsThe recent studies concern genetic variants located in the coding and noncoding regions of the VDR gene. Some of the described genetic variants may affect VDR expression or posttranslational processing altered functionality or vitD binding capacity of VDR. Nevertheless, the data collected in recent months on the assessment of the relationship between VDR genetic variants and the risk of T2D, MetS, overweight, and obesity still do not give a clear answer to whether they have a direct impact on these metabolic disorders.SummaryAnalysis of the potential association between VDR genetic variants and parameters such as glycemia, body mass index, body fat, and lipid levels improves the current understanding of the pathogenesis of T2D, MetS, overweight, and obesity. A thorough understanding of this relationship may provide important information for individuals with pathogenic variants and enable the implementation of appropriate prevention against the development of these disorders.
Purpose of reviewVitamin D (vitD) can regulate metabolic pathways in adipose tissue and pancreatic β cells by interacting with its vitamin D receptor (VDR). The aim of this study was to review original publications published in the last months and verify the relationship between genetic variants in the VDR gene and type 2 diabetes (T2D), metabolic syndrome (MetS), overweight, and obesity.Recent findingsThe recent studies concern genetic variants located in the coding and noncoding regions of the VDR gene. Some of the described genetic variants may affect VDR expression or posttranslational processing altered functionality or vitD binding capacity of VDR. Nevertheless, the data collected in recent months on the assessment of the relationship between VDR genetic variants and the risk of T2D, MetS, overweight, and obesity still do not give a clear answer to whether they have a direct impact on these metabolic disorders.SummaryAnalysis of the potential association between VDR genetic variants and parameters such as glycemia, body mass index, body fat, and lipid levels improves the current understanding of the pathogenesis of T2D, MetS, overweight, and obesity. A thorough understanding of this relationship may provide important information for individuals with pathogenic variants and enable the implementation of appropriate prevention against the development of these disorders.
Актуальність. Геномні ефекти вітаміну D визначаються конформаційними змінами в структурі рецептора вітаміну D (vitamin D receptor — VDR), детермінованими однонуклеотидними варіантами (single nucleotide variants — SNV) гена VDR. Метою нашого дослідження є вивчення асоціації SNV гена VDR із метаболічно нездоровим ожирінням (МНО) в дітей. Матеріали та методи. Обстежено 252 дитини з ожирінням віком 6–18 років. Основну групу (n = 152) становили діти з МНО. Контрольну групу (n = 100) представили діти з метаболічно здоровим ожирінням. У 31 дитини основної та 21 дитини контрольної груп проведено повногеномне секвенування (CeGat, Germany). В усіх пацієнтів вимірювали рівень сироваткового 25-гідроксивітаміну D (Synevo, Ukraine). Для верифікації результатів застосовували розрахунок коефіцієнта кореляції Спірмена (r) і p-значення для кожної змінної, а також біоінформаційний аналіз. Результати. Ідентифіковано п’ять SNV гена VDR: rs2228570 (1 варіація числа копій ДНК (CNV): c.2T>C у 94,23 %); rs731236 (2 CNV: c.11056T>C, c.1206T>C у 65,38 %); rs10783218 (2 CNV: c.296+8C>T, c.146+8C>T у 7,69 %); rs2228572 (2 CNV: c.57C>T, c.207C>T в 1,92 %); rs12721365 (2 CNV: c.1059C>T, c.909C>T в 1,92 % пацієнтів). Кореляція між дефіцитом вітаміну D і SNV VDR відзначена для таких генотипів: AA rs12721365 (r = 0,41), AA rs2228572 (r = 0,39) та GG rs 2228570 (r = –0,27), p < 0,05. Кореляція між SNV VDR та МНО спостерігалася при таких генотипах: AA rs12721365 (r = 0,21), AA rs2228572 (r = 0,21), GG rs731236 (r = –0,15) та GG rs2228570 (r = –0,31), p < 0,05. Висновки. Генотипи AG SNV VDR rs12721365, rs2228572 високо асоційовані з розвитком МНО.
In the modern paradigm of public health protection, much attention is paid to the health of women in peri- and postmenopause, and a personalized approach prevails. It is generally recognized that the pathogenetic therapy of menopausal disorders is hormone therapy. But the COVID-19 pandemic has made its own adjustments to the routine strategy of choosing menopausal hormone therapy (MHT). The purpose of this review was to analyze studies on the dependence of the effectiveness of MHT on clinical and genetic aspects in the context of the ongoing COVID-19 pandemic. The review highlights the main risks of MHT for thromboembolic diseases and coagulation complications characteristic of COVID-19, discusses genetic predispositions that aggravate the course of the post-COVID period, as well as the effectiveness of estrogens in protecting the vascular endothelium and increasing the number of CD4+ T cells, providing an adequate immune response when infected with SARS-CoV-2. Numerous studies show that the complications characteristic of the severe course of COVID-19 are multifactorial in nature and cannot be unambiguously explained only by genetic predisposition. However, with the development of personalized medicine, special attention should be paid to the study of genetic aspects that can equally contribute to the occurrence of menopausal disorders in healthy women and aggravate the course of the post-pregnancy period. The data presented allow us to conclude that in the context of the ongoing COVID-19 pandemic at the population level, MHT can bring significant benefits to women during menopause due to the beneficial effect of estrogens on vascular walls. Additional study of the relationship between the course of the postcovid period in MHT users and polymorphisms of candidate genes that determine the risks of thrombotic complications and metabolic consequences is required.
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