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Vitamin D Signaling in Human Health and Diseases
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Vitamin D Signaling in Human Health and Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 March 2026) | Viewed by 4111

Special Issue Editor

Dr. Daniela Rovito

E-Mail Website
Guest Editor
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), F-67400 Illkirch, France
Interests: nuclear receptor; vitamin D pathophysiology; rare disease

Special Issue Information

Dear Colleagues,

We are thrilled to invite you to contribute to a Special Issue dedicated to “Vitamin D Signaling in Human Health and Diseases”. As the impact of vitamin D in regulating human health has gained significant attention in recent years, we seek to explore its multifaceted role in various physiological processes and its implication in human diseases.

This Special Issue aims to provide a comprehensive collection of research articles, reviews, and perspectives that explore the intricate mechanisms of vitamin D signaling. We strongly encourage submissions to cover a wide spectrum of topics, including molecular pathways, cellular responses, and clinical outcomes of vitamin D biology. Authors are encouraged to explore topics such as the role of vitamin D in immune modulation, bone health, cardiovascular function, cancer prevention, and its influence on diverse organ systems.

We look forward to receiving your manuscripts.

Dr. Daniela Rovito
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • vitamin D receptor
  • vitamin D
  • prevention
  • therapeutic potential
  • mineral homeostasis

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (3 papers)

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Research

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16 pages, 667 KB  
Article
Search for Potential VDR/Partner Composite Elements in Regulatory DNA of Genes Associated with Respiratory Infections and Atopic Diseases
by Alexey V. Popov, Dmitry Yu. Oshchepkov, Vladislav V. Kononchuk, Tatiana S. Kalinina, Ilya S. Valembakhov, Alexander D. Lukin, Elena G. Kondyurina, Vera V. Zelenskaya and Valentin Vavilin
Int. J. Mol. Sci. 2026, 27(1), 409; https://doi.org/10.3390/ijms27010409 - 30 Dec 2025
Viewed by 830
Abstract
Vitamin D deficiency is associated with the risk of atopic diseases and respiratory infections. The activated vitamin D receptor (VDR) forms a dimer with the retinoid X receptor alpha (RXRA) and binds to VDR/RXRA composite elements (CEs) in enhancers of target genes. However, [...] Read more.
Vitamin D deficiency is associated with the risk of atopic diseases and respiratory infections. The activated vitamin D receptor (VDR) forms a dimer with the retinoid X receptor alpha (RXRA) and binds to VDR/RXRA composite elements (CEs) in enhancers of target genes. However, VDR/RXRA CEs are identified in only 11.5% of cases in ChIP-Seq peaks. Our hypothesis was that VDR could form a VDR-Partner complex with transcription factor for which CEs have not yet been identified. We utilized Web-MCOT to search for novel VDR/Partner CEs in regulatory DNA. The potential formation of the VDR-Partner protein complex was assessed using the AlphaFold machine learning model. Through real-time RT-PCR, we measured the expression of immune system genes in a culture of U937 macrophage-like cells incubated with the active metabolite of vitamin D, calcitriol. We have predicted novel VDR/NR2C2 and VDR/PPARG CEs in the regulatory regions of immune system genes. We found potential synergism of VDR/NR2C2 and VDR/RXRA CEs in relation to the IRF5 gene, as well as potential synergism of VDR/PPARG and VDR/RXRA CEs for MAPK13. Predicting new regulatory relationships through the identification of new potential VDR/Partner CEs may provide insight into the deep mechanisms of vitamin D involvement in the pathogenesis of atopic dermatitis, bronchial asthma, allergic rhinitis, and pulmonary infections. Full article
(This article belongs to the Special Issue Vitamin D Signaling in Human Health and Diseases)
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Review

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31 pages, 1320 KB  
Review
Vitamin D and Metabolic Dysfunction-Associated Steatotic Liver Disease: Molecular Mechanisms and Clinical Implications—A Narrative Review
by Héctor Fuentes-Barría, Raúl Aguilera-Eguía, Miguel Alarcón-Rivera, Lisse Angarita-Davila and Cherie Flores-Fernández
Int. J. Mol. Sci. 2026, 27(6), 2532; https://doi.org/10.3390/ijms27062532 - 10 Mar 2026
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Abstract
Vitamin D has been extensively investigated for its role in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), a chronic condition characterized by hepatic steatosis, insulin resistance, inflammation, and metabolic dysregulation. This review examines the molecular mechanisms through which vitamin D influences liver metabolism, insulin [...] Read more.
Vitamin D has been extensively investigated for its role in Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), a chronic condition characterized by hepatic steatosis, insulin resistance, inflammation, and metabolic dysregulation. This review examines the molecular mechanisms through which vitamin D influences liver metabolism, insulin signaling, lipid accumulation, and inflammatory pathways while evaluating its potential clinical applications in MASLD management. In its active form, 1,25-dihydroxyvitamin D3, vitamin D modulates hepatocyte function by reducing proinflammatory cytokines, enhancing insulin sensitivity, activating AMPK signaling, inhibiting mTOR pathways, and regulating lipid homeostasis. These effects contribute to decreased hepatic fat deposition and improved metabolic profiles, which are key in MASLD progression. Evidence also suggests that vitamin D supplementation may improve liver enzymes, insulin resistance, and lipid parameters in patients with MASLD, although responses vary depending on dosage, baseline vitamin D status, and patient characteristics. Despite promising findings, inconsistencies in study design, measurement methods, and population differences underscore the need for standardized approaches and personalized strategies. In conclusion, vitamin D demonstrates complementary therapeutic potential in MASLD, highlighting research gaps related to optimal dosing, duration, and long-term outcomes. Future studies should integrate mechanistic insights with clinical trials to optimize vitamin D’s role in improving liver and metabolic health. Full article
(This article belongs to the Special Issue Vitamin D Signaling in Human Health and Diseases)
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15 pages, 1075 KB  
Review
Pathophysiological Role of Vitamin D Deficiency in Down Syndrome: Insights into Metabolic Dysfunction and Sarcopenia
by Maria Stella Valle, Cristina Russo, Sofia Surdo, Maria Teresa Cambria, Mariachiara Campanella, Michele Tuttobene and Lucia Malaguarnera
Int. J. Mol. Sci. 2025, 26(21), 10756; https://doi.org/10.3390/ijms262110756 - 5 Nov 2025
Cited by 1 | Viewed by 1506
Abstract
People with Down syndrome represent a highly vulnerable population, frequently showing vitamin D deficiency together with an elevated risk of metabolic and neuromuscular dysfunction. This susceptibility derives from several factors, including muscular hypotonia, excess body weight, thyroid abnormalities, and immune dysregulation. The coexistence [...] Read more.
People with Down syndrome represent a highly vulnerable population, frequently showing vitamin D deficiency together with an elevated risk of metabolic and neuromuscular dysfunction. This susceptibility derives from several factors, including muscular hypotonia, excess body weight, thyroid abnormalities, and immune dysregulation. The coexistence of these conditions compromises bone and muscle health, increases cardiometabolic risk, and reduces motor abilities and coordination, thereby predisposing individuals to falls, sarcopenia, sarcopenic obesity, and long-term disability. Vitamin D, traditionally known for its essential role in bone health, is now recognized as a pleiotropic hormone regulating immune responses, metabolic balance, and muscle performance. Its deficiency is increasingly linked to obesity, insulin resistance, diabetes mellitus, dyslipidemia, and metabolic syndrome. These adverse outcomes are mediated through mechanisms involving chronic inflammation, oxidative stress, mitochondrial impairment, and disrupted adipokine signaling. This review integrates current molecular, cellular, and clinical evidence on the multifaceted actions of vitamin D in Down syndrome. Particular emphasis is placed on its effects on insulin signaling, adipose tissue metabolism, inflammatory regulation, and muscle strength. Finally, vitamin D is discussed as a biomarker and therapeutic target to guide personalized interventions aimed at improving metabolic health, maintaining muscle function, and promoting long-term independence in this high-risk population. Full article
(This article belongs to the Special Issue Vitamin D Signaling in Human Health and Diseases)
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