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  • Article
  • Open Access
19 Citations
4,159 Views
20 Pages

Vitamin D Receptor (VDR) Genetic Variants: Relationship of FokI Genotypes with VDR Expression and Clinical Disease Activity in Systemic Lupus Erythematosus Patients

  • Mónica R. Meza-Meza,
  • Barbara Vizmanos,
  • Melissa Rivera-Escoto,
  • Adolfo I. Ruiz-Ballesteros,
  • Karen Pesqueda-Cendejas,
  • Isela Parra-Rojas,
  • Margarita Montoya-Buelna,
  • Sonia Luquín,
  • Bertha Campos-López and
  • Ulises De la Cruz-Mosso
  • + 2 authors

3 November 2022

Vitamin D (VD) deficiency is more frequent in systemic lupus erythematosus (SLE) patients than in control subjects (CS); genetic variants in the VD receptor (VDR) could contribute to the clinical disease activity. This study was aimed to determine th...

  • Review
  • Open Access
42 Citations
5,321 Views
16 Pages

VDR Gene Single Nucleotide Polymorphisms and Autoimmunity: A Narrative Review

  • Cristina Agliardi,
  • Franca Rosa Guerini,
  • Elisabetta Bolognesi,
  • Milena Zanzottera and
  • Mario Clerici

26 June 2023

The vitamin D/Vitamin D receptor (VDR) axis is crucial for human health as it regulates the expression of genes involved in different functions, including calcium homeostasis, energy metabolism, cell growth and differentiation, and immune responses....

  • Article
  • Open Access
14 Citations
3,358 Views
19 Pages

Polymorphism of VDR Gene and the Sensitivity of Human Leukemia and Lymphoma Cells to Active Forms of Vitamin D

  • Justyna Joanna Gleba,
  • Dagmara Kłopotowska,
  • Joanna Banach,
  • Eliza Turlej,
  • Karolina Anna Mielko,
  • Katarzyna Gębura,
  • Katarzyna Bogunia-Kubik,
  • Andrzej Kutner and
  • Joanna Wietrzyk

13 January 2022

The active forms of vitamin D3 (calcitriol and tacalcitol) coupled to the vitamin D receptor (VDR) are known to exhibit anti-cancer properties. However, not all cancer cells are sensitive to the active forms of vitamin D3 and its analogs. The study a...

  • Article
  • Open Access
10 Citations
3,189 Views
19 Pages

The Significance of VDR Genetic Polymorphisms in the Etiology of Preeclampsia in Pregnant Polish Women

  • Justyna Magiełda-Stola,
  • Grażyna Kurzawińska,
  • Marcin Ożarowski,
  • Tomasz M. Karpiński,
  • Krzysztof Drews and
  • Agnieszka Seremak-Mrozikiewicz

17 September 2021

For the first time in the Polish population, we aimed to investigate associations between the VDR gene single-nucleotide polymorphisms (SNPs) BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) and the development of preeclamp...

  • Review
  • Open Access
69 Citations
12,611 Views
12 Pages

Vitamin D and VDR in Gynecological Cancers—A Systematic Review

  • Eileen Deuster,
  • Udo Jeschke,
  • Yao Ye,
  • Sven Mahner and
  • Bastian Czogalla

4 November 2017

In recent years, a vast amount of studies have centered on the role of vitamin D in the pathogenesis of certain types of cancers such as breast, colorectal and lung cancer. Increasing evidence suggests that vitamin D and its receptor play a crucial r...

  • Review
  • Open Access
52 Citations
8,382 Views
18 Pages

Role of Placental VDR Expression and Function in Common Late Pregnancy Disorders

  • Julia Knabl,
  • Aurelia Vattai,
  • Yao Ye,
  • Julia Jueckstock,
  • Stefan Hutter,
  • Franz Kainer,
  • Sven Mahner and
  • Udo Jeschke

6 November 2017

Vitamin D, besides its classical role in bone metabolism, plays a distinct role in multiple pathways of the feto-maternal unit. Calcitriol is the major active ligand of the nuclear vitamin D receptor (VDR). The vitamin D receptor (VDR) is expressed i...

  • Article
  • Open Access
4 Citations
2,801 Views
17 Pages

The VDR rs1544410 and rs11568820 Variants and the Risk of Osteoporosis in the Polish Population

  • Adam Kamiński,
  • Anna Bogacz,
  • Joanna Teresa Niezgoda-Nowak,
  • Marta Podralska,
  • Aleksandra Górska,
  • Michał Soczawa and
  • Bogusław Czerny

Vitamin D affects bone metabolism and calcium-phosphate metabolism. Its deficiency leads to bone mineralization disorders and is the cause of abnormal skeletal development from fetal life to the period of completed skeletal growth. In later periods o...

  • Article
  • Open Access
34 Citations
7,035 Views
18 Pages

Expression of Vitamin D Receptor (VDR) Positively Correlates with Survival of Urothelial Bladder Cancer Patients

  • Wojciech Jóźwicki,
  • Anna A. Brożyna,
  • Jerzy Siekiera and
  • Andrzej T. Slominski

15 October 2015

Vitamin D3 shows tumoristatic and anticancer effects by acting through the vitamin D receptor (VDR), while hydroxylation of 25-hydroxyvitamin D3 at position 1α by CYP27B1 is an essential step in its activation. The expression of both the VDR and CYP...

  • Review
  • Open Access
8 Citations
3,442 Views
54 Pages

21 November 2022

Since the discovery of vitamin D a century ago, a great number of metabolites, analogs, hybrids and nonsteroidal VDR ligands have been developed. An enormous effort has been made to synthesize compounds which present beneficial properties while attai...

  • Article
  • Open Access
21 Citations
4,193 Views
12 Pages

Role of the Vitamin D Receptor (VDR) in the Pathogenesis of Osteoporosis: A Genetic, Epigenetic and Molecular Pilot Study

  • Beatrice Gasperini,
  • Virginia Veronica Visconti,
  • Cinzia Ciccacci,
  • Angela Falvino,
  • Elena Gasbarra,
  • Riccardo Iundusi,
  • Maria Luisa Brandi,
  • Annalisa Botta and
  • Umberto Tarantino

21 February 2023

The vitamin D receptor (VDR) regulates bone development and calcium homeostasis, suggesting a central role in musculoskeletal diseases such as osteoporosis (OP). Several studies have examined the contribution of VDR polymorphisms and epigenetic signa...

  • Review
  • Open Access
35 Citations
5,137 Views
21 Pages

Vitamin D–VDR Novel Anti-Inflammatory Molecules—New Insights into Their Effects on Liver Diseases

  • Ioanna Aggeletopoulou,
  • Konstantinos Thomopoulos,
  • Athanasia Mouzaki and
  • Christos Triantos

There is consistent evidence that vitamin D deficiency is strongly associated with liver dysfunction, disease severity, and poor prognosis in patients with liver disease. Vitamin D and its receptor (VDR) contribute to the regulation of innate and ada...

  • Review
  • Open Access
24 Citations
5,608 Views
14 Pages

Alzheimer’s disease (AD) is characterized by amyloid beta (Aβ) buildup and neuronal degeneration. An association between low serum vitamin D levels and an increased risk of AD has been reported in several epidemiological studies. Calcitrio...

  • Article
  • Open Access
3 Citations
2,767 Views
12 Pages

Bone Metastases of Diverse Primary Origin Frequently Express the VDR (Vitamin D Receptor) and CYP24A1

  • Jonas Seiler,
  • Regina Ebert,
  • Maximilian Rudert,
  • Marietta Herrmann,
  • Ellen Leich,
  • Manuela Weißenberger and
  • Konstantin Horas

3 November 2022

Active vitamin D (1,25(OH)2D3) is known to exert direct anti-cancer actions on various malignant tissues through binding to the vitamin D receptor (VDR). These effects have been demonstrated in breast, prostate, renal and thyroid cancers, which all h...

  • Proceeding Paper
  • Open Access
1 Citations
1,568 Views
6 Pages

Associations between Vitamin D Receptor (VDR) Polymorphisms and Gut Microbiota in a Spanish Population Sample

  • Rocío González Soltero,
  • Carlo Bressa,
  • Mariangela Tabone,
  • Sara Clemente,
  • Mar Larrosa and
  • María Bailén

This study examined the association between genetic variations in the Vitamin D Receptor (VDR) gene and the composition of gut microbiota in a Spanish population. The VDR gene plays a role in mediating the effects of vitamin D on gut microbiota compo...

  • Article
  • Open Access
580 Views
16 Pages

Search for Potential VDR/Partner Composite Elements in Regulatory DNA of Genes Associated with Respiratory Infections and Atopic Diseases

  • 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

30 December 2025

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...

  • Article
  • Open Access
8 Citations
2,827 Views
14 Pages

TaaI/Cdx-2 AA Variant of VDR Defines the Response to Phototherapy amongst Patients with Psoriasis

  • Aleksandra Lesiak,
  • Karolina Wódz,
  • Magdalena Ciążyńska,
  • Małgorzata Skibinska,
  • Michał Waszczykowski,
  • Karol Ciążyński,
  • Irmina Olejniczak-Staruch,
  • Dorota Sobolewska-Sztychny and
  • Joanna Narbutt

16 June 2021

1,25-dihydroxyvitamin-D3 plays a central role in the immune system via binding to the vitamin D receptor. VDR polymorphisms have been associated with multiple autoimmune disorders, including psoriasis. Until now, five VDR polymorphisms, FokI, ApaI, B...

  • Article
  • Open Access
1 Citations
2,332 Views
18 Pages

VDR Gene Polymorphisms (BsmI, FokI, TaqI, ApaI) in Total Hip Arthroplasty Outcome Patients

  • Dominika Rozmus,
  • Ewa Fiedorowicz,
  • Roman Grzybowski,
  • Janusz Płomiński and
  • Anna Cieślińska

A total hip arthroplasty (THA) can improve quality of life, but loosening of the hip prosthesis is a complex problem in which vitamin D may also play a role. The Vitamin D Receptor (VDR) is involved in the response of cells to the action of vitamin D...

  • Article
  • Open Access
469 Views
22 Pages

27 January 2026

Background: Vitamin D receptor (VDR) gene polymorphisms are linked to muscle and bone physiology, yet their influence on individual differences in resistance training adaptations, especially between sexes, is not well understood. Methods: In total, 1...

  • Article
  • Open Access
10 Citations
2,760 Views
13 Pages

Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents

  • Eduarda Pontes dos Santos Araújo,
  • Severina Carla Vieira da Cunha Lima,
  • Ony Araújo Galdino,
  • Ricardo Fernando Arrais,
  • Karla Simone Costa de Souza and
  • Adriana Augusto de Rezende

2 November 2022

Associations between vitamin D deficiency and metabolic syndrome (MS) have been reported; however, the underlying biological mechanisms remain controversial. The aim of this study was to investigate the associations of CYP2R1 and VDR variants with MS...

  • Article
  • Open Access
6 Citations
4,064 Views
10 Pages

Growth, Dietary Intake, and Vitamin D Receptor (VDR) Promoter Genotype in Indonesian School-Age Children

  • Tiffany Cornelia Angelin,
  • Saptawati Bardosono,
  • Dewi Shinta and
  • Umi Fahmida

24 August 2021

Nutrition has been known as a predominant factor associated with stunting. However, some studies have discovered a genetic contribution in calcium absorption that will affect growth, known as the VDR gene. The aim of this study was to assess the asso...

  • Article
  • Open Access
18 Citations
6,145 Views
14 Pages

Vitamin D Status and Association of VDR Genetic Polymorphism to Risk of Breast Cancer in Ethiopia

  • Jemal Hussien Ahmed,
  • Eyasu Makonnen,
  • Alan Fotoohi,
  • Getnet Yimer,
  • Daniel Seifu,
  • Mathewos Assefa,
  • Wondmagegnehu Tigeneh,
  • Abraham Aseffa,
  • Rawleigh Howe and
  • Eleni Aklillu

29 January 2019

Emerging evidence associates vitamin D deficiency and vitamin D receptor (VDR) genetic variations with risk for breast cancer. This study investigated the prevalence of vitamin D deficiency and its association with tumor characteristics and the impli...

  • Article
  • Open Access
10 Citations
2,177 Views
12 Pages

Investigation of Microbial Translocation, TLR and VDR Gene Polymorphisms, and Recurrence Risk in Stage III Colorectal Cancer Patients

  • Ippokratis Messaritakis,
  • Asimina Koulouridi,
  • Eleni Boukla,
  • Maria Sfakianaki,
  • Konstantinos Vogiatzoglou,
  • Michaela Karagianni,
  • Nikolaos Gouvas,
  • John Tsiaoussis,
  • Evangelos Xynos and
  • John Souglakos
  • + 3 authors

10 September 2022

Gut microbial dysbiosis and microbial passage into the peripheral blood leads to colorectal cancer (CRC) and disease progression. Toll-like (TLR) and vitamin D (VDR) receptors play important role in the immune modulation and polymorphisms that may in...

  • Article
  • Open Access
1,211 Views
18 Pages

VDR Decrease Enhances the Efficacy of 1,25-Dihydroxyvitamin D3 Inhibiting Gefitinib Resistance by Regulating EGFR/FASN Loop in NSCLC Cells

  • Junqing Yang,
  • Mingyu Fang,
  • Mengjun Hou,
  • Yalei Duan,
  • Jiali Wang,
  • Kaiyong Hu,
  • Shuo Liu,
  • Xiaoying Liu,
  • Xiaohan Peng and
  • Zhirong Jia
  • + 1 author

21 August 2025

Background: Gefitinib is a first-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) targeting EGFR-mutated non-small cell lung cancer (NSCLC) and is a current first-line treatment for NSCLC. However, acquired resistance...

  • Article
  • Open Access
1,452 Views
16 Pages

Exploring the Association of Vitamin D and VDR Polymorphisms with Disease Severity in COVID-19 and Influenza

  • Alexandru Constantin Sîrbu,
  • Ioana Corina Bocșan,
  • Octavia Sabin,
  • Raluca Maria Pop,
  • Ștefan Cristian Vesa,
  • Gavriela Feketea,
  • Violeta Briciu,
  • Mihaela Lupșe and
  • Anca Dana Buzoianu

Background: Respiratory viral infections such as COVID-19 and influenza represent significant public health threats, especially in vulnerable populations. Vitamin D has been promoted as an immunomodulatory agent, with previous studies suggesting an a...

  • Article
  • Open Access
30 Citations
4,927 Views
16 Pages

Antiproliferative Activity of Non-Calcemic Vitamin D Analogs on Human Melanoma Lines in Relation to VDR and PDIA3 Receptors

  • Tomasz Wasiewicz,
  • Anna Piotrowska,
  • Justyna Wierzbicka,
  • Andrzej T. Slominski and
  • Michal A. Zmijewski

Vitamin D is a precursor for secosteroidal hormones, which demonstrate pleiotropic biological activities, including the regulation of growth and the differentiation of normal and malignant cells. Our previous studies have indicated that the inhibitio...

  • Article
  • Open Access
1 Citations
2,408 Views
10 Pages

Background: Rising incidence of inflammatory bowel disease (IBD) is an increasing concern among patients of young age worldwide and its most important complication is colitis-associated cancer (CAC). Vitamin D (VD) deficiency is common in IBD and inv...

  • Article
  • Open Access
36 Citations
6,431 Views
14 Pages

4 March 2021

Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the VDR gene. VD...

  • Article
  • Open Access
13 Citations
3,020 Views
13 Pages

28 November 2023

There is increasing evidence regarding the importance of vitamin D in the prognosis of coronavirus disease 2019 (COVID-19). Genetic variants in the vitamin D receptor (VDR) gene affect the response to vitamin D and have been linked to various disease...

  • Brief Report
  • Open Access
11 Citations
4,232 Views
14 Pages

VDR rs2228570 Polymorphism Is Related to Non-Progression to AIDS in Antiretroviral Therapy Naïve HIV-Infected Patients

  • María A. Jiménez-Sousa,
  • José Luis Jiménez,
  • Amanda Fernández-Rodríguez,
  • Oscar Brochado-Kith,
  • José María Bellón,
  • Félix Gutierrez,
  • Cristina Díez,
  • Enrique Bernal-Morell,
  • Pompeyo Viciana and
  • Salvador Resino
  • + 1 author

Background: Vitamin D is a fundamental regulator of host defenses by activating genes related to innate and adaptive immunity. In this study, we analyzed the association among single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR) gen...

  • Article
  • Open Access
6 Citations
3,397 Views
13 Pages

Placental mRNA and Protein Expression of VDR, CYP27B1 and CYP2R1 Genes Related to Vitamin D Metabolism in Preeclamptic Women

  • Justyna Magiełda-Stola,
  • Grażyna Kurzawińska,
  • Marcin Ożarowski,
  • Anna Bogacz,
  • Hubert Wolski,
  • Krzysztof Drews,
  • Tomasz M. Karpiński,
  • Marlena Wolek and
  • Agnieszka Seremak-Mrozikiewicz

14 December 2021

(1) Background: Considerable evidence indicates that the occurrence of preeclampsia (PE) is associated with a reduced vitamin D (VD) level. Several studies have found that VD deficiency is correlated with disturbed trophoblast invasion, reduced angio...

  • Article
  • Open Access
2 Citations
2,097 Views
15 Pages

The Role of Serum Vitamin D Levels and Vitamin D Receptor (VDR) Gene Variants on Dental Caries

  • Ece Şengün Berber,
  • Feyza Umay Koç,
  • Ayça Aykut,
  • Burcu Barutçuoğlu,
  • Fahinur Ertuğrul,
  • Merve Tosyalı,
  • Mert Pekerbaş and
  • Arzu Aykut Yetkiner

24 December 2024

Background/Objectives: Vitamin D helps the mineralization of bone, teeth, and other calcified tissues by regulating calcium–phosphate metabolism. The nuclear activation of the vitamin D receptor (VDR) gene is essential for the effectiveness of...

  • Article
  • Open Access
11 Citations
4,016 Views
19 Pages

7 November 2023

The onset of sarcopenia is associated with a decline in vitamin D receptor (VDR) expression, wherein reduced VDR levels contribute to muscle atrophy, while heightened expression promotes muscle hypertrophy. Like VDR, the age-related decline in protei...

  • Review
  • Open Access
373 Views
14 Pages

28 January 2026

Microbiota-derived indoles and short-chain fatty acids (SCFAs) modulate intestinal immunity via the aryl hydrocarbon receptor (AhR) and vitamin D receptor (VDR). This review proposes an operational AhR–VDR axis—three testable models (sequ...

  • Article
  • Open Access
146 Citations
11,546 Views
9 Pages

Vitamin D Receptor (VDR) Gene Polymorphisms Modify the Response to Vitamin D Supplementation: A Systematic Review and Meta-Analysis

  • Ricardo Usategui-Martín,
  • Daniel-Antonio De Luis-Román,
  • José María Fernández-Gómez,
  • Marta Ruiz-Mambrilla and
  • José-Luis Pérez-Castrillón

15 January 2022

The vitamin D receptor (VDR), a member of the nuclear receptor superfamily of transcriptional regulators, is crucial to calcitriol signalling. VDR is regulated by genetic and environmental factors and it is hypothesised that the response to vitamin D...

  • Article
  • Open Access
1,603 Views
18 Pages

FokI Polymorphism of the VDR Gene Is Associated with Vitamin D Insufficiency in Elite Male Power Athletes of Kazakhstan

  • Aidana Gabdulkayum,
  • Saya Amangeldikyzy,
  • Adil Yerezhepov,
  • Sayipzhamal Khassanova,
  • Kenes R. Akilzhanov,
  • Ulan Kozhamkulov,
  • Saule Rakhimova,
  • Ulykbek Kairov,
  • Ainur Akilzhanova and
  • Dauren Yerezhepov

11 October 2025

Background/Objectives: We aimed to investigate the association between VDR gene variants and vitamin D levels in elite male power athletes of Kazakhstan. Methods: We recruited 92 elite male power athletes of Kazakhstan. Concentrations of serum 25(OH)...

  • Article
  • Open Access
16 Citations
4,836 Views
22 Pages

Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms

  • Carmina Mariana Stroia,
  • Timea Claudia Ghitea,
  • Maria Vrânceanu,
  • Mariana Mureșan,
  • Erika Bimbo-Szuhai,
  • Csaba Robert Pallag and
  • Annamaria Pallag

25 April 2024

The presence of vitamin D3 deficiency associated with the presence of metabolic syndrome (MS) has important public health effects. This study aims to investigate the relationship between vitamin D3 deficiency, MS and vitamin D3 receptor (VDR), GC Vit...

  • Article
  • Open Access
4 Citations
1,555 Views
13 Pages

Lactobacillus rhamnosus GG Administration Is Associated with Stimulation of Vitamin D/VDR Pathway and Mucosal Microbiota Modulation in Ulcerative Colitis Patients: A Pilot Study

  • Cristiano Pagnini,
  • Manuele Gori,
  • Maria Carla Di Paolo,
  • Riccardo Urgesi,
  • Claudia Cicione,
  • Maria Zingariello,
  • Francesca Arciprete,
  • Viola Velardi,
  • Elisa Viciani and
  • Gianfranco Delle Fave
  • + 3 authors

1 November 2025

Background: The interaction between probiotics and the vitamin D/vitamin D receptor (VDR) pathway has been increasingly explored as a potential mechanism for immune modulation in inflammatory bowel disease (IBD). Lactobacillus rhamnosus GG (LGG) has...

  • Article
  • Open Access
2 Citations
2,994 Views
20 Pages

The Association of VDR, CYP2R1, and GC Gene Polymorphisms, Dietary Intake, and BMI in Regulating Vitamin D Status

  • Carmina Mariana Stroia,
  • Annamaria Pallag,
  • Maria Vrânceanu,
  • David de Lorenzo,
  • Keith Anthony Grimaldi,
  • Csaba Robert Pallag,
  • Kinga Vindis,
  • Diana Bei,
  • Cristina Burlou-Nagy (Fati) and
  • Timea Claudia Ghitea

14 July 2025

Vitamin D plays a crucial role in bone health and immune function, with serum 25(OH)D levels influenced by genetic, dietary, and metabolic factors. Background/Objectives: This study investigated the impact of VDR rs731236, CYP2R1 rs10741657, and GC r...

  • Article
  • Open Access
1 Citations
1,926 Views
11 Pages

13 June 2023

(1) Vitamin D deficiency and changes in the endocrine system may stimulate systemic inflammation. VDR expression and the vitamin D concentration decrease with age, which is important in postmenopausal women for whom estrogen deficiency causes rapid b...

  • Article
  • Open Access
9 Citations
2,633 Views
17 Pages

16 October 2022

Vitamin D deficiency is related with susceptibility or progression of various autoimmune diseases. The aim of the study was to assess potential relations between single nucleotide polymorphisms (SNPs) in the vitamin D receptor-coding gene (VDR): rs15...

  • Review
  • Open Access
19 Citations
6,050 Views
16 Pages

Vitamin D May Protect against Breast Cancer through the Regulation of Long Noncoding RNAs by VDR Signaling

  • Janusz Blasiak,
  • Jan Chojnacki,
  • Elzbieta Pawlowska,
  • Aleksandra Jablkowska and
  • Cezary Chojnacki

Dietary vitamin D3 has attracted wide interest as a natural compound for breast cancer prevention and therapy, supported by in vitro and animal studies. The exact mechanism of such action of vitamin D3 is unknown and may include several independent o...

  • Article
  • Open Access
160 Views
17 Pages

Vitamin D Receptor (VDR) Polymorphisms and Cardiometabolic Profiles in Orthopedic Patients: A Cluster-Based Analysis

  • Dariusz Larysz,
  • Remigiusz Recław,
  • Aleksandra Suchanecka,
  • Wojciech Dziurawiec,
  • Rafał Tkacz,
  • Aleksandra Strońska-Pluta,
  • Krzysztof Chmielowiec,
  • Anna Grzywacz and
  • Jolanta Chmielowiec

18 February 2026

Genetic polymorphisms contribute to inter-individual variability in cardiometabolic risk and quality-of-life outcomes, yet their clinical relevance often remains unclear due to population heterogeneity and reliance on single-variant analyses. Integra...

  • Article
  • Open Access
23 Citations
4,575 Views
21 Pages

Calcitriol Suppresses HIF-1 and HIF-2 Transcriptional Activity by Reducing HIF-1/2α Protein Levels via a VDR-Independent Mechanism

  • Ioanna-Maria Gkotinakou,
  • Eleni Kechagia,
  • Kalliopi Pazaitou-Panayiotou,
  • Ilias Mylonis,
  • Panagiotis Liakos and
  • Andreas Tsakalof

9 November 2020

Hypoxia-inducible transcription factors 1 and 2 (HIFs) are major mediators of cancer development and progression and validated targets for cancer therapy. Although calcitriol, the biologically active metabolite of vitamin D, was attributed with antic...

  • Article
  • Open Access
5 Citations
2,475 Views
20 Pages

Genetic Polymorphisms (ApaI, FokI, BsmI, and TaqI) of the Vitamin D Receptor (VDR) Influence the Natural History and Phenotype of Crohn’s Disease

  • Theodora Kafentzi,
  • Efthymios P. Tsounis,
  • Evanthia Tourkochristou,
  • Evdoxia Avramopoulou,
  • Ioanna Aggeletopoulou,
  • Georgios Geramoutsos,
  • Christos Sotiropoulos,
  • Ploutarchos Pastras,
  • Konstantinos Thomopoulos and
  • Christos Triantos
  • + 1 author

21 February 2025

Vitamin D receptor (VDR) single-nucleotide polymorphisms (SNPs) modulate vitamin D/VDR signaling, a key pathway in inflammatory bowel disease (IBD) pathogenesis. This study investigates how ApaI, BsmI, TaqI, and FokI SNPs affect IBD phenotype and pro...

  • Article
  • Open Access
2 Citations
1,477 Views
12 Pages

Vitamin D Genetics Beyond Serum 25(OH)D: VDR rs2228570 (FokI) Polymorphism, Inflammation, and Quality of Life in Orthopedic Patients

  • Dariusz Larysz,
  • Remigiusz Recław,
  • Aleksandra Suchanecka,
  • Wojciech Dziurawiec,
  • Rafał Tkacz,
  • Aleksandra Strońska-Pluta,
  • Krzysztof Chmielowiec,
  • Anna Grzywacz and
  • Jolanta Chmielowiec

11 September 2025

Background: Vitamin D receptor (VDR) polymorphisms may influence immune regulation and musculoskeletal health, but their perioperative role is not well understood. This study investigated the rs2228570 (FokI) variant in relation to inflammatory, hema...

  • Article
  • Open Access
11 Citations
4,003 Views
11 Pages

Evaluation of the Association of VDR rs2228570 Polymorphism with Elite Track and Field Athletes’ Competitive Performance

  • Celal Bulgay,
  • Işık Bayraktar,
  • Hasan Huseyin Kazan,
  • Damla Selin Yıldırım,
  • Erdal Zorba,
  • Onur Akman,
  • Mehmet Ali Ergun,
  • Mesut Cerit,
  • Korkut Ulucan and
  • Raluca Mijaică
  • + 4 authors

25 February 2023

The present study aimed to examine the vitamin D receptor (VDR), rs2228570 polymorphism, and its effect on elite athletes’ performance. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/ physically inactive, aged 18...

  • Systematic Review
  • Open Access
17 Citations
4,766 Views
23 Pages

Polymorphisms in VDR, CYP27B1, CYP2R1, GC and CYP24A1 Genes as Biomarkers of Survival in Non-Small Cell Lung Cancer: A Systematic Review

  • Laura Elena Pineda-Lancheros,
  • José María Gálvez-Navas,
  • Susana Rojo-Tolosa,
  • Cristina Membrive-Jiménez,
  • María Isabel Valverde-Merino,
  • Fernando Martínez-Martínez,
  • Almudena Sánchez-Martín,
  • MCarmen Ramírez-Tortosa,
  • Cristina Pérez-Ramírez and
  • Alberto Jiménez-Morales

21 March 2023

The objective of this systematic review was to provide a compilation of all the literature available on the association between single-nucleotide polymorphisms (SNPs) in the genes involved in the metabolic pathway of vitamin D and overall survival (O...

  • Article
  • Open Access
9 Citations
4,946 Views
15 Pages

High Levels of Circulating Type II Collagen Degradation Marker (CTx-II) Are Associated with Specific VDR Polymorphisms in Patients with Adult Vertebral Osteochondrosis

  • Sabina Cauci,
  • Marco Viganò,
  • Laura De Girolamo,
  • Paola De Luca,
  • Carlotta Perucca Orfei,
  • Giuseppe Banfi,
  • Giovanni Lombardi,
  • Marco Brayda-Bruno and
  • Alessandra Colombini

29 September 2017

Both vitamin D and collagen have roles in osteocartilaginous homeostasis. We evaluated the association between the circulating 25-hydroxyvitamin D (25(OH)D) type I and II collagen degradation products (CTx-I, and CTx-II), and four vitamin D receptor...

  • Article
  • Open Access
24 Citations
4,965 Views
17 Pages

Artificial Neural Networks Model for Predicting Type 2 Diabetes Mellitus Based on VDR Gene FokI Polymorphism, Lipid Profile and Demographic Data

  • Ma’mon M. Hatmal,
  • Salim M. Abderrahman,
  • Wajeha Nimer,
  • Zaynab Al-Eisawi,
  • Hamzeh J. Al-Ameer,
  • Mohammad A. I. Al-Hatamleh,
  • Rohimah Mohamud and
  • Walhan Alshaer

13 August 2020

Type 2 diabetes mellitus (T2DM) is a multifactorial disease associated with many genetic polymorphisms; among them is the FokI polymorphism in the vitamin D receptor (VDR) gene. In this case-control study, samples from 82 T2DM patients and 82 healthy...

  • Article
  • Open Access
8 Citations
3,116 Views
14 Pages

30 April 2024

Background: Vitamin D plays a vital role in modulating both innate and adaptive immune systems. Therefore, vitamin D deficiency has been associated with higher levels of autoimmune response and increased susceptibility to infections. CYP27B1 encodes...

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