The genome-wide analysis of the vitamin D receptor binding sites evidences a wide range of potential therapeutic applications of vitamin D

Громова, О. А.; Торшин, И Ю; Спиричев, В. Б.

doi:10.21518/2079-701x-2016-1-12-21

Cited by 14 publications

(4 citation statements)

References 24 publications

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“…Дефіцит вітаміну D призводить до зниження активності VDR. При цьому геномні функції вітаміну D здійснюються не повністю, що призводить до порушення формування кісток, активності факторів росту, імунітету, транспорту глюкози, синаптичної передачі сигналу, процесів детоксикації, енергетичного метаболізму в клітині, дії інсуліну [4].…”

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Polymorphic Variants of the VDR Gene in Children With Psoriasis

Murzina¹,

Rossokha²

2020

D&V

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The objective. To study and analyze the differences in prevalence of ApaI (A/C) and TaqI (T/C) polymorphic variants of the VDR gene in children with psoriasis depending on gender. Materials and methods. We examined 56 children with psoriasis aged 4–17. Psoriasis was determined based on clinical findings and generally accepted diagnostic criteria. The buccal epithelium, taken from children, served as the material for genotyping. ApaI and TaqI polymorphisms of the VDR gene were detected using the polymerase chain reaction (PCR) technique and the following restriction fragment length polymorphism (RFLP) analysis. The values were calculated using the STATISTICA software package. Results and discussion. When studying polymorphic variants of the VDR gene, AC (48.21%) and TC (47.37%) heterozygotes were identified to prevail by ApaI (A/C) and TaqI (T/C) allele frequency in the group of children with psoriasis. In the group of boys with psoriasis the number of AA homozygotes (8.70%) by ApaI was apparently less than in the group of healthy ones (58.33%), TT homozygous variants (56.52%) prevailed by TaqI polymorphic variant, while in the group of healthy boys – TC heterozygotes (44.00%). Based on the research results the increasing frequency of the ApaI C allele (0.56) and significant frequency of the TaqI T allele (0.68), which prevails due to the distinctions between groups of boys with psoriasis and healthy ones, were registered in the group of children with psoriasis. Five haplotype combinations, in the loci studied, were detected in children, and TTCC haplotype (32.14%) as well as TCAC (35.71%) prevailed, while CCAA haplotype (8.93%) was least in number. Conclusion. Statistically significant differences by the frequency of ApaI (A/C) and TaqI (T/C) polymorphic variants were detected between groups of children with psoriasis and healthy children. While grouping haplotype frequencies by two polymorphic variants of the VDR gene, a statistically significant difference was detected between groups of children with psoriasis and healthy ones, which takes place due to a statistically significant difference in the frequencies of TTAA and TTCC haplotypes between groups. The risk of psoriasis was reported to be the highest in children with TTCC haplotype.

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Polymorphic Variants of the VDR Gene in Children With Psoriasis

Murzina¹,

Rossokha²

2020

D&V

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“…Apart from an exogenous supplementation of Vitamin D, there are also endogenous pathways of its complex metabolism and transportation to the cellular membranes and nuclei via VDR, a specific Vitamin D receptor, ensuring "an extremely wide range of developmental disorders and diseases" notably among children, according to O. A. Gromova et al [3]. Due to the nuclear gene stimulation, Vitamin D is regulating the connective and bone tissue, as well as immune system [3].…”

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confidence: 99%

“…A. Gromova et al [3]. Due to the nuclear gene stimulation, Vitamin D is regulating the connective and bone tissue, as well as immune system [3]. The VDR gene located on the short arm of chromosome 12 (12q12-q14) is up to 75 kb, contains 11 ex-© 2020.…”

Section: Introductionmentioning

confidence: 99%

“…Full list of author information is available at the end of the article. ons (among them 8 (2)(3)(4)(5)(6)(7)(8)(9) encoding the gene's protein structure). According to the common nomenclature of alleles, the Vitamin D receptor gene's polymorphism is identified by Fok1 (Ff rs2228570), Apal (Аа rs7975232 GT), BsmI (Bb rs 1544410 GA), TaqI (Tt rs731236 TC) isoforms [4].…”

Section: Introductionmentioning

confidence: 99%

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Дискуссионные Проблемы Генетического Полиморфизма Рецептора Витамина D При Бронхиальной Астме

Yakovleva¹,

Nikolova²

2021

PJS

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The review presents information on variants of Vitamin D receptor’s genetic polymorphism, ensuring the direct physiological effects of the Vitamin via stimulation of nuclear cellular mechanisms. The article was aimed at raising awareness of the global scientific advances in the field of Vitamin D receptor’s genetic polymorphism and its association with bronchopulmonary pathology in various regions of the planet. The search of scientific references was carried out in the Scopus, Web of Science, The Cochrane Library, Pubmed, ResearchGate, Russian Science Citation Index (RINC) information databases. The regulatory potential of the Vitamin D active hormonal effects in the bronchopulmonary pathology, especially in bronchial asthma (BA), remains unclear in terms of its pathogenetic links. Individual alleles inherent in the receptor genetics were studied, primarily in children with BA across the world. The results were compared as to levels of Vitamin D supplementation, BA symptoms and course The divergences were found in the four variants of alleles: Fok1, Apal, BsmI, TaqI. Those divergences prevail in the individual ethnic populations, limiting our capacities of drawing unambiguous conclusions, although the relationship between the course of BA and the deficient Vitamin’s status remains predominant. It is necessary to widen the database prospectively, to clarify the genetic variants of all the components involved in the metabolism and the Vitamin’s effects (transporter proteins, cytochrome P450 and vitamin D receptor) while the research geography is also expanding in the world.

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Hand osteoarthritis: pathogenesis, diagnosis, and approaches to therapy

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Лила

et al. 2019

Sovremennaâ revmatologiâ

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Osteoarthritis (OA) is a widespread disease accompanied by persistent joint damage with obvious functional failure, which leads to early disability in patients. In OA, different groups of joints are involved in the pathological process. Hand joints are one of the classical sites of OA. The paper discusses the role of mechanical load, genetic factors, and sex hormone deficiency in the development of the disease. The treatment policy includes a set of non-pharmacological, pharmacological, and surgical methods.

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The genome-wide analysis of the vitamin D receptor binding sites evidences a wide range of potential therapeutic applications of vitamin D

Cited by 14 publications

References 24 publications

Polymorphic Variants of the VDR Gene in Children With Psoriasis

Polymorphic Variants of the VDR Gene in Children With Psoriasis

Дискуссионные Проблемы Генетического Полиморфизма Рецептора Витамина D При Бронхиальной Астме

Hand osteoarthritis: pathogenesis, diagnosis, and approaches to therapy

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