Vitamin D receptor gene polymorphism as possible risk factor in rheumatoid arthritis and rheumatoid related osteoporosis

Mosaad, Youssef M.; Hammad, Enas; Fawzy, Zakaria; Aal, Ibrahim Abdel; Youssef, Hazem; Elsaid, Tamer O.; Monir, Rehan; El-Deek, Basem

doi:10.1016/j.humimm.2014.02.009

Cited by 67 publications

(46 citation statements)

References 51 publications

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“…When tumor necrosis factor transgenic mice are interbred with VDR deficient mice, the VDR deficient tumor necrosis factor transgenic mice have earlier onset of a more aggressive chronic arthritis, suggesting that signaling via a VDR is implicated in the pathogenesis of arthritis. 25 A recent study showed significant differences between patients and healthy controls in the frequency of BsmI and TaqI, suggesting BsmI and TaqI polymorphisms may be susceptibility risk factors for RA. 25 These studies suggested that vitamin D function in RA may also be dependent on its VDR expression level on the target cells or VDR polymorphisms.…”

Section: Discussionmentioning

confidence: 99%

“…25 A recent study showed significant differences between patients and healthy controls in the frequency of BsmI and TaqI, suggesting BsmI and TaqI polymorphisms may be susceptibility risk factors for RA. 25 These studies suggested that vitamin D function in RA may also be dependent on its VDR expression level on the target cells or VDR polymorphisms. The relationship between serum vitamin D level and RA disease are more complex than we think.…”

Section: Discussionmentioning

confidence: 99%

“…[22][23][24][25] Animal models of autoimmune disease have shown beneficial effects of vitamin D as an immunosuppressant. Cantorna et al 23 suggested that active vitamin D can be used to decrease incidence and severity of disease in murine models of human RA.…”

Section: Discussionmentioning

confidence: 99%

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Serum Vitamin D Level is Inversely Associated With Anti-Cyclic Citrullinated Peptide Antibody Level and Disease Activity in Rheumatoid Arthritis Patients

Wang

Zhang²,

Wang³

et al. 2016

Arch Rheumatol

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Objectives: This study aims to assess the relationship between serum vitamin D and anti-cyclic citrullinated peptide (anti-CCP) antibody levels, as well as disease activity in patients with newly diagnosed rheumatoid arthritis (RA). Patients and methods: These measurements were conducted between January 2014 and June 2014. Serum 25-hydroxy vitamin D (25-OH-D), anti-CCP antibody, and erythrocyte sedimentation rates were measured in a cohort of 154 patients (66 males, 88 females; mean age 53.5±12.4; range 29 to 79 years) with early RA. A control group of 60 healthy participants (25 males, 35 females; mean age 51.4±10.3; range 25 to 75 years) was only evaluated for serum 25-OH-D levels. Disease activity was measured by calculating the 28-Joint Disease Activity Score. Blood samples were drawn from cubital veins. After centrifugation, serum was collected and stored under minus 20 degrees. Results: Vitamin D deficiency was more prevalent in RA group compared with control group (48.70% vs. 30.00%, p<0.05). Serum 25-OH-D levels were lower in RA group (19.46±8.20 ng/mL) than control group (23.18±6.71 ng/mL) (p<0.05). In the RA group, serum 25-OH-D levels were negatively correlated to anti-CCP antibody levels (rs= -0.360, p<0.001), erythrocyte sedimentation rate (rs= -0.270, p<0.001), age of patients (rs= -0.602, p<0.001), and disease activity (rs= -0.249, p<0.05), respectively. Serum 25-OH-D level did not vary according to sex in the RA group. In control group, females had lower serum rs=0.404). In addition, serum 25-OH-D level was also negatively associated with age in control group (p<0.001, rs= -0.578). There were no differences between RA group and control group in terms of age and sex ratio. Conclusion: Serum 25-OH-D level was negatively correlated to anti-CCP antibody level and disease activity, which implied the therapeutic role of serum 25-OH-D in RA.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Serum Vitamin D Level is Inversely Associated With Anti-Cyclic Citrullinated Peptide Antibody Level and Disease Activity in Rheumatoid Arthritis Patients

Wang

Zhang²,

Wang³

et al. 2016

Arch Rheumatol

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“…Molecular-based epidemiological studies have identified several functional polymorphisms in the VDR [21] and have demonstrated that the variants can affect the function of the receptor by altering its affinity to vitamin D [28,29]. VDR genetic variants have previously been associated with a number of diseases including pulmonary tuberculosis, diabetes, osteoporosis, asthma, ulcerative colitis, breast and female reproductive cancers, melanoma, systemic lupus erythematous and rheumatoid arthritis, Parkinson's disease, and coronary artery disease [30][31][32][33][34][35][36][37][38][39]. Pharmacogenetic studies have shown that VDR polymorphisms can modulate the response to a number of drugs including anti-tubercular and anti-psoriatic medications, anti-osteoporotic agents in postmenopausal women, interferon and ribavirin in patients with hepatitis C, vitamin D supplementation, and calcitriol [40][41][42][43][44][45][46], as well as with statin-induced myopathy [47].…”

Section: Discussionmentioning

confidence: 99%

Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort

et al. 2018

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Warfarin is primarily metabolized by cytochrome 2C9, encoded by gene CYP2C9. Here, we investigated whether variants in nuclear receptor genes which regulate the expression of CYP2C9 are associated with warfarin response. We used data from 906 warfarin users from the Quebec Warfarin Cohort (QWC) and tested the association of warfarin dose requirement at 3 months following the initiation of therapy in nine nuclear receptor genes: NR1I3, NR1I2, NR3C1, ESR1, GATA4, RXRA, VDR, CEBPA, and HNF4A. Three correlated SNPs in the VDR gene (rs4760658, rs11168292, and rs11168293) were associated with dose requirements of warfarin (P = 2.68 × 10 −5 , P = 5.81 × 10 −4 , and P = 5.94 × 10, respectively). Required doses of warfarin were the highest for homozygotes of the minor allele at the VDR variants (P < 0.0026). Variants in the VDR gene were associated with the variability in response to warfarin, emphasizing the possible clinical relevance of nuclear receptor gene variants on the inter-individual variability in drug metabolism.

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“…Their distribution and frequency vary among ethnic groups. Most of the work done on VDR polymorphisms has been conducted in Caucasian populations and has focused on six SNPs: rs10735810 or FokI in exon 2, rs1544410 or BsmI in intron 8, rs731236 or TaqI in exon9, rs7975232 or ApaI in intron 8, rs757343 or Tru91 in intron 8 and the poly (A) mononucleotide repeat in the 3′-untranslated region (UTR) [40,41].…”

Section: Vitamin D Expression On Immune Systemmentioning

confidence: 99%

Vitamin D and Immune System

Mosaad¹,

Mostafa²,

Elwasify³

et al. 2017

Vitam Miner

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Vitamin D receptor gene polymorphism as possible risk factor in rheumatoid arthritis and rheumatoid related osteoporosis

Cited by 67 publications

References 51 publications

Serum Vitamin D Level is Inversely Associated With Anti-Cyclic Citrullinated Peptide Antibody Level and Disease Activity in Rheumatoid Arthritis Patients

Serum Vitamin D Level is Inversely Associated With Anti-Cyclic Citrullinated Peptide Antibody Level and Disease Activity in Rheumatoid Arthritis Patients

Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort

Vitamin D and Immune System

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