Abstract
PurposeTo 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).MethodsA 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.ResultsThe 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.ConclusionsReduced 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.
Highlights
Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease, with variable clinical expression
Vitamin D level was decreased in patients and control, and vitamin D receptor (VDR) gene polymorphisms were not linked to rheumatoid arthritis (RA)
Characteristics, osteoporotic risk factors, dualenergy X-ray absorptiometry (DEXA), trabecular bone score (TBS), and FRAX of patients and controls are presented in Table 1 and Fig. 1. 86.6% of patients vs 31.1% control were not working (p < 0.0001) while 76.3% were married vs 91.1% (p = 0.01)
Summary
Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease, with variable clinical expression It arises more frequently in females than in males, being predominantly observed in the elderly. Multi-factorial conditions have been involved in RA development, but genetic factors are considered to be strong determinants of these conditions One of these influencing genes in RA progress is the vitamin D receptor (VDR) gene and its polymorphisms [7]. There are several polymorphic sites in the 3′ region of the VDR human gene identified by restriction endonuclease enzymes TaqI, BsmI, ApaI, and another variant in the exon 2 recognized by FokI These polymorphisms may affect the response to various dietary components with the potential raised risk for development of pathology, being demonstrated on a large scope by functional involvement of the alleles of the VDR on calcium homeostasis and bone mineralization [8]
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