Association of vitamin D receptor genetic variants with bone mineral density and inflammatory markers in rheumatoid arthritis

Despotović, Milena; Stoimenov, Tatjana Jevtović; Stojanović, Simona; Bašić, Jelena; Kundalić, Jasen; Đorđević, Biljana; Ranđelović, Milica; Pavlović, D.

doi:10.1016/j.clinbiochem.2020.10.006

Cited by 10 publications

(4 citation statements)

References 32 publications

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“…Of these polymorphic sites, BsmI are substitutions on intron 8 whereas ForkI restriction enzyme identifies a polymorphic site in exon 2 at the 50 ends of the VDR gene. They have an effective role, a functional significance of these polymorphisms, wwwand their potential effects on RA susceptibility [34]. The current study showed that VDR genotyping rs 2,228,570 (Fok-I) was similar between patients and control with a tendency to a higher frequency of GG genotype.…”

Section: Discussionsupporting

confidence: 54%

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: Discussionsupporting

confidence: 54%

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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“…FokI and Taq I VDR SNPs, thus, were significantly associated with the risk of developing RA both in overall and subgroup analyses. A post-2020 [63] confirmed FokI SNP involvement in RA risk in the Serbian population. Finally, a study on Italians [64] (191 RA patients and 246 HC) confirmed a protective role for the TaqI CC genotype against RA risk (p = 0.045, OR = 0.55, 95% CI = 0.31-0.99) (Table 3).…”

Section: Rheumatoid Arthritis (Ra)mentioning

confidence: 66%

VDR Gene Single Nucleotide Polymorphisms and Autoimmunity: A Narrative Review

Agliardi

Guerini

Bolognesi

et al. 2023

Biology

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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. In particular, the vitamin D/VDR complex regulates genes of both innate and adaptive immunity. Autoimmune diseases are believed to arise from a genetic predisposition and the presence of triggers such as hormones and environmental factors. Among these, a role for Vitamin D and molecules correlated to its functions has been repeatedly suggested. Four single nucleotide polymorphisms (SNPs) of the VDR gene, ApaI, BsmI, TaqI, and FokI, in particular, have been associated with autoimmune disorders. The presence of particular VDR SNP alleles and genotypes, thus, was observed to modulate the likelihood of developing diverse autoimmune conditions, either increasing or reducing it. In this work, we will review the scientific literature suggesting a role for these different factors in the pathogenesis of autoimmune conditions and summarize evidence indicating a possible VDR SNP involvement in the onset of these diseases. A better understanding of the role of the molecular mechanisms linking Vitamin D/VDR and autoimmunity might be extremely useful in designing novel therapeutic avenues for these disorders.

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“… NA PCR-RFLP No VDR Fok I (rs10735810), Bsm I (rs1544410) and Taq I (rs731236) The analysis shows a difference between the transmissibility of the F allele of Fok I, with the 'F/F′ genotype being more frequent in RA patients. Bsm I and Taq I showed no difference in distribution Rheumatoid arthritis Yoshida, S., 2014 [ 74 ] Japan Cohort Study 1957 patients NA TaqMan Genotyping Assay Age, gender, disability score, biochemistry parameters and treatment GC, DHCR7/NADSYN1 and CYP2R1 GC (rs2282679), DHCR7/NADSYN1 (rs3829251, rs12785878 and rs1790349) and CYP2R1 (rs10741657) The minor GC allele was strongly associated with patients with low serum concentrations of 25(OH)D3 and could be a risk factor for hip fracture in Japanese RA patients Rheumatoid arthritis Despotovic, 2021[ 75 ] Republic of Serbia Case-Control 143/105 57,04 ± 12.48/56 ± 16.59 PCR-RFLP No VDR Fok I (rs2228570), Bsm I (rs1544410), Apa I (rs7975232), and Taq I (rs731236) The results indicate an association of f allele carriers ( Fok I) and increased susceptibility to RA, as well as with all the different outcomes. Haplotype analysis showed difference in the distribution of Bsm I/ Apa I (Ba) haplotype carriers in RA with associated osteopenia compared to controls Rheumatoid Arthritis Brink, M, 2018 [ 76 ] Sweden Case-Control 515/267 54,5 ± 9.4/53,9 ± 9.3 TaqMan Genotyping Assay BMI, sampling time of year (dark/light), smoking ever, educational level (academic/no academic), age at the time of sampling GC ...…”

Section: Resultsmentioning

confidence: 99%

The impact of genetic variants related to vitamin D and autoimmunity: A systematic review

Trefilio,

Bottino,

de Carvalho Cardoso

et al. 2024

Heliyon

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Association of vitamin D receptor genetic variants with bone mineral density and inflammatory markers in rheumatoid arthritis

Cited by 10 publications

References 32 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

VDR Gene Single Nucleotide Polymorphisms and Autoimmunity: A Narrative Review

The impact of genetic variants related to vitamin D and autoimmunity: A systematic review

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