Vitamin D and VDR Gene Polymorphisms’ Association with Rheumatoid Arthritis in Lithuanian Population

Punceviciene, Egle; Gaizevska, J.; Sabaliauskaitė, Rasa; Vencevičienė, Lina; Pūrienė, Alina; Vitkus, Dalius; Jarmalaitė, Sonata; Butrimienė, İrena

doi:10.3390/medicina57040346

Cited by 15 publications

(18 citation statements)

References 41 publications

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“…There was no significant difference as regards rs731236 (Taq-I) genotyping between patients and controls. In harmony, genetic analysis of four VDR polymorphisms, BsmI, FokI, ApaI, and TaqI did not confer the susceptibility to RA in Lithuanian population [19]. However, it has been reported that there was a significant higher percentage of (Fok-I) genotyping among RA cases versus controls but not BsmI [35].…”

Section: Discussionmentioning

confidence: 88%

“…The coexistence of RA and osteoporosis is common and can lead to serious complications. The role of vitamin D and vitamin D receptor (VDR) gene polymorphisms in RA pathogenesis and clinical course of the disease has been investigated, with controversial data according to many factors including genetic, ethnicity, and environmental factors [19].…”

Section: Discussionmentioning

confidence: 99%

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Bone mineral density, vitamin D receptor (VDR) gene polymorphisms, fracture risk assessment (FRAX), and trabecular bone score (TBS) in rheumatoid arthritis patients: connecting pieces of the puzzle

et al. 2022

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Purpose To assess vitamin D receptor (VDR) gene polymorphisms and bone mineral density and to investigate the possible risk factors of osteoporosis and fracture in rheumatoid arthritis (RA). Methods A total of 97 RA patients and 45 matched controls were enrolled. Serum vitamin D level, VDR genotyping, dual-energy X-ray absorptiometry (DEXA) scan, trabecular bone score (TBS), and fracture risk assessment (FRAX) in 10 years were assessed. Disease activity score (DAS28) and modified health assessment questionnaire (MHAQ) were measured. Results The mean age of the patients was 47.9 ± 8.9 years; 85 females, 12 males (F:M 7.1:1) and mean disease duration 9.4 ± 6.2 years. DAS28 was 4.52 ± 1.04 and MHAQ 0.6 ± 0.4. There was a significant difference between cases and controls as regards DEXA and FRAX (p < 0.0001) but the TBS and VDR genotyping were comparable (p = 0.29 and p = 0.12, respectively). The vitamin D level was comparable with the control (9.3 ± 6.5 vs 10.4 ± 7.5 ng/mL, p = 0.4). None of the patients was receiving anti-osteoporotic therapy or biologic therapy. There was a significant association between the presence of osteoporosis and age, disease duration, menopause, and rheumatoid factor (RF) positivity. The TBS was significantly lower and FRAX higher in patients with positive RF and anti-CCP. FRAX was significantly related and the TBS inversely with the age, disease duration, serum uric acid, alkaline phosphatase, and MHAQ. Conclusions Reduced BMD and increased tendency to fractures are remarkable in RA patients. Vitamin D level was decreased in patients and control, and VDR gene polymorphisms were not linked to RA. TBS and FRAX are effective tools to assess osteoporotic fractures in RA. Key Points• Reduced bone mineral density (BMD) and increased tendency to fractures are remarkable in rheumatoid arthritis (RA) patients.• Vitamin D level was decreased in patients and control, and VDR gene polymorphisms were not linked to RA.• Trabecular bone score (TBS) and fracture risk assessment (FRAX) in 10 years are effective tools to assess osteoporotic fractures in RA.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Bone mineral density, vitamin D receptor (VDR) gene polymorphisms, fracture risk assessment (FRAX), and trabecular bone score (TBS) in rheumatoid arthritis patients: connecting pieces of the puzzle

et al. 2022

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“…Totally 76 participants (35 RA patients and 41 healthy control subject) were included from a casecontrol vitamin D and VDR gene polymorphisms study regarding age and vitamin D concentration [18]. All participants were enrolled at Vilnius University Hospital Santaros Klinikos (VUHSK) Rheumatology Centre after informed consent was obtained according to the permission of Vilnius Regional Biomedical Research Ethics Committee (Approval No.…”

Section: Study Cohortsmentioning

confidence: 99%

“…From a case-control vitamin D and VDR gene polymorphisms study [18] a group of 35 RA patients and 41 healthy controls was selected for further DNA methylation analysis of vitamin D metabolism pathway genes. Average age of RA subjects at enrolment into the study was 51.63±10.45 years, mean disease duration 12.40±8.22 years.…”

Section: Main Study Population Characteristicsmentioning

confidence: 99%

Analysis of Epigenetic Changes in Vitamin D Pathway Genes in Rheumatoid Arthritis Patients

Punceviciene

Gaizevska

Sabaliauskaitė

et al. 2022

AML

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Background: Rheumatoid arthritis (RA) is an autoimmune inflammatory disease with complex etiopathogenesis launched by multiple risk factors, including epigenetic alterations. RA is possibly linked to vitamin D that is epigenetically active and may alter DNA methylation of certain genes. Therefore, the study aimed to evaluate the relationship between DNA methylation status of vitamin D signaling pathway genes (VDR, CYP24A1, CYP2R1), vitamin D level and associations with RA.Materials and Methods: Totally 76 participants (35 RA patients and 41 healthy controls) were enrolled from a case-control vitamin D and VDR gene polymorphisms study regarding age and vitamin D concentration. CpG islands in promoter regions of the VDR, CYP24A1, CYP2R1 genes were chosen for DNA methylation analysis by means of pyrosequencing. Chemiluminescent microplate immunoassay was used to assess 25(OH)D serum levels. RA clinical data, i.e. the disease activity score C-reactive protein 28 (DAS28 – CRP) as well as patient-reported outcome questionnaires were recorded.Results: The study showed similar methylation pattern in the promoter regions of vitamin D pathway genes in RA and control group with p>0.05 (VDR gene 2.39% vs. 2.48%, CYP24A1 gene 16.02% vs. 15.17% and CYP2R1 2.53% vs. 2.41%). CYP24A1 methylation intensity was significantly higher in compare to methylation intensity of VDR and CYP2R1 genes in both groups (p<0.0001). A tendency of higher vitamin D concentration in cases having methylated VDR (57.57±28.93 vs. 47.40±29.88 nmol/l), CYP24A1 (53.23±26.22 vs. 48.23±34.41 nmol/l) and CYP2R1 (60.41±30.73 vs. 44.54±27.63 nmol/l) genes and a positive correlation between VDR, CYP2R1 methylation intensity and vitamin D level in RA affected participants was revealed (p>0.05). A significantly higher CYP24A1 methylation intensity (p=0.0104) was detected in blood cells of vitamin D deficient (<50 nmol/l) RA patients vs. vitamin D deficient controls.Conclusions: Our data suggests some indirect associations between DNA methylation status of vitamin D pathway genes and vitamin D level in RA.

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“…Many studies have been conducted on the association between VDR and various diseases. VDR deficient mice showed increased sensitivity to immune diseases such as inflammatory bow- [25][26][27] Wittke et al 20) reported that mice deficient in VDR did not develop experimental allergic asthma. In addition, in VDR deficient lung cells, infiltrated eosinophils, pathogenic lymphocytes were decreased and the development of airway hyperresponsiveness has been reduced.…”

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confidence: 99%

Upregulation of the Vitamin D Receptor in the Nasal Mucosa of Patients With Allergic Rhinitis

Kim

Lee

et al. 2021

J Rhinol

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Background and Objectives: Vitamin D modulates immunity, including that of allergic diseases, and plays its roles through contact with vitamin D receptors (VDR). Recent studies have shown that patients with allergic rhinitis have low systemic serum vitamin D level. However, the expression of VDR in local tissue such as human nasal mucosa has not been investigated. Our study demonstrated that, in nasal mucosa of normal controls and patients with allergic rhinitis. Materials and Method: Nasal mucosa were harvested from twenty-five patients who had normal nasal mucosa and twentyfive patients with allergic rhinitis. After the total RNA isolation, we performed RT-PCR, immunohistochemical staining and western blot analysis. Results: VDR were expressed in submucosal glands and the superficial layer of epithelial cell, and that inflammatory cells are expressed more highly in the nasal mucosa of patients with allergic rhinitis compared to those without. In the mucosa of patients with allergic rhinitis, VDR expression level was upregulated compared to that in normal nasal mucosa. Conclusion:This findings suggest that VDR plays a role in the pathogenesis of allergic rhinitis. Additional research is needed to determine the mechanism and consequences of VDR upregulation.

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Vitamin D and VDR Gene Polymorphisms’ Association with Rheumatoid Arthritis in Lithuanian Population

Cited by 15 publications

References 41 publications

Bone mineral density, vitamin D receptor (VDR) gene polymorphisms, fracture risk assessment (FRAX), and trabecular bone score (TBS) in rheumatoid arthritis patients: connecting pieces of the puzzle

Bone mineral density, vitamin D receptor (VDR) gene polymorphisms, fracture risk assessment (FRAX), and trabecular bone score (TBS) in rheumatoid arthritis patients: connecting pieces of the puzzle

Analysis of Epigenetic Changes in Vitamin D Pathway Genes in Rheumatoid Arthritis Patients

Upregulation of the Vitamin D Receptor in the Nasal Mucosa of Patients With Allergic Rhinitis

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