[Vitamin D receptor gene BsmI polymorphism in rheumatoid arthritis and associated osteoporosis - Experimental data]

RASS Péter1, PÁKOZDI Angéla1, LAKATOS Péter2, SZABÓ Zoltán1, VÉGVÁRI Anikó1, SZÁNTÓ Sándor1, SZEGEDI Gyula1, BAKÓ Gyula1, SZEKANECZ Zoltán1

APRIL 20, 2002

Ca&Bone - 2002;5(01-02)

[AIM: Rheumatoid arthritis (RA) is commonly associated with secondary osteoporosis.The BsmI polymorphism of the vitamin D receptor (VDR) gene has been implicated in the pathogenesis of osteoporosis. However, little data is available on the relationship between rheumatoid arthritis and the BsmI polymorphism. In this study, Hungarian frequencies of BsmI polymorphism genotypes were compared with those found in other countries. METHODS: In this study, 64 RA patients and 40 healthy controls were tested for VDR gene BsmI polymorphism genotypes.The frequencies of the B and b alleles were correlated with densitometric and laboratory markers of bone metabolism as well as with laboratory markers of arthritis. RESULTS: Among control subjects, the frequency of the BB genotype (27,5%) was relatively higher than in other European populations. In RA patients with secondary osteopenia/osteoporosis the BB genotype was rarer, while the bb was more common than in control subjects. Markers of bone metabolism showed that the presence of the B allele in RA patients was associated with a lower bone mineral density and an increased bone loss, while the bb genotype was associated with a higher bone mineral content. An increased osteoclast and osteoblast activity was observed in patients with the B allele, as determined by biochemical markers of bone metabolism. Rheumatoid factor titer, an important laboratory marker of disease progression in RA, was significantly higher in bb patients compared to patients carrying the B allele. CONCLUSION: Our data suggest that the imbalance in B and b allele expression may be involved in the pathogenesis of osteoporosis and perhaps of rheumatoid arthritis.]


  1. Debreceni Egyetem Orvos- és Egészségtudományi Centrum, III. Sz. Belgyógyászati Klinika, Reumatológia Tanszék, Debrecen
  2. Semmelweis Egyetem, ÁOK, I. Sz. Belgyógyászati Klinika, Budapest



Further articles in this publication


[Postgradual education for the assistants of the Osteoporosis Centers]

[Postgradual education for the assistants of the Osteoporosis Centers, 2002;5(01-02)]


[Bibliography of Hungarian literature on calcium and bone metabolism, 2001]


[Bibliography of Hungarian literature on calcium and bone metabolism, 2001]


[Evaluation of bone mineralization in cow’s milk sensitive children]


[BACKGROUND - Patients with cow's milk allergy (CMA) form a potential risk group for osteopenia, because their milk-free diet usually has a low calcium content.The study analyses various parameters of bone mineralization in CMA children. PATIENTS AND METHODS - Twenty-seven CMA patients (mean age: 4.3 years, range: 3-8 years) were enrolled in the study.Transient sensitivity to cow's milk was observed in 20 of 27 patients. During the milk-free diet period (mean duration 11.8 months) children were fed by extensively hydrolysed or soy-based formulas. Seven patients still required a cow's milk free diet at the time of the study. Serum levels of Na, K, Cl, Ca, P and Mg ions, as well as of alkaline phosphatase (AP), parathyroid hormone (PTH), osteocalcin and beta-crosslaps were determined for all 27 patients.The values were compared to those of 20 healthy age-matched controls. Bone mineral densities (BMDs) of CMA patients were also measured. RESULTS - The AP and PTH levels were higher in CMA patients than in the control group (AP: 610.2 U/l vs 499.7 U/l, p<0.01; PTH: 1.56 pmol/l vs 0.83 pmol/l, p<0.03), but all values fell in the normal range.The osteocalcin level was similar in the two groups, and the beta-crosslaps was lower in CMA patients than in the controls (0.92 vs 1.47 ng/ml, p<0.001).There was a positive correlation between both AP and osteocalcin and AP and beta-crosslaps levels.The mean Z score of bone mineral density in patients with CMA was -0.6. In 10 cases the Z score was below -1, which was associated with a significantly elevated PTH level compared to the group of patients with a Z score above - 1 (2.24 pmol/l vs 1.16 pmol/l, p<0.03). CONCLUSION - In children with CMA on a cow's milk free diet, slight disturbances of bone mineralization were observed, therefore, osteodensitometric check-up of these children is recommended.]


[In memoriam - Bossányi Ada]





All articles in the issue

Related contents

Journal of Nursing Theory and Practice

[Identifying osteoporosis in a primary care setting with quantitative ultrasound]

HIRDI Henriett Éva, SZOBOTA Lívia

[Osteoporosis is one of the most under-diagnosed and under-treated health conditions. In recent decades, several risk indices have been developed to identify women at risk for low bone mineral density (BMD) who require a BMD test. This study aimed to demonstrate that quantitative ultrasound bone density measurement can indeed be performed simply by nurses working in primary care, which can significantly facilitate early detection of osteopenic and osteoporotic conditions. Method: The medical records of all patients who had an ultrasound of the left heel using the quantitative heel ultrasound machine between March 2021 through December 2021 were reviewed retrospectively. The subjects were 20-64-year-old adults (N=1032). Calcaneal quantitative ultra­sound parameters were registered with Sonost-2000 bone densitometer. The body composition was measured using a multi-frequency segmental body composition analyzer. The measurement results were evaluated with SPSS 22.0 statistical program and descriptive statistics. The mean age of the population studied was 43.12±9.6 years; 29.7% were men and 70.3% were women. Of the women in our study, 2.4% were osteoporotic (T ≤ −2.5), and 49.86% were classified as osteopenic according to the WHO operational definition. Osteopenic values were measured in 32.35% of men. A total of 273 subjects (26.45%) in the study sample were in the 50-64 age group (223 women and 50 men). 4% of women over the age of 50 had osteoporosis and 63.7% had osteopenia. Rating of the OST score no one was placed in the high-risk group. Of the 9 women with osteoporosis, 8 were classified as low-risk and 1 as medium based on OST. Nurses in primary care are able to identify key risk factors for osteoporosis, examine the measurement with quantitative ultrasound, and identify individuals with the disease. ]

Clinical Neuroscience

Management of bone metabolism in epilepsy

UÇAN TOKUÇ Ezgi Firdevs , FATMA Genç, ABIDIN Erdal, YASEMIN Biçer Gömceli

Many systemic problems arise due to the side effects of antiepileptic drugs (AEDs) used in epilepsy patients. Among these adverse effects are low bone mineral density and increased fracture risk due to long-term AED use. Although various studies have supported this association with increased risk in recent years, the length of this process has not been precisely defined and there is no clear consensus on bone density scanning, intervals of screening, and the subject of calcium and vitamin D supplementation. In this study, in accordance with the most current recommendations, our applications and data, including the detection of possible bone mineralization disorders, treatment methods, and recommendations to prevent bone mineralization disorders, were evaluated in epilepsy patients who were followed up at our outpatient clinic. It was aimed to draw attention to the significance of management of bone metabolism carried out with appropriate protocols. Epilepsy patients were followed up at the Antalya Training and Research Hospital Department of Neurology, Epilepsy Outpatient Clinic who were at high risk for osteoporosis (use of valproic acid [VPA] and enzyme-inducing drugs, using any AED for over 5 years, and postmenopausal women) and were evaluated using a screening protocol. According to this protocol, a total of 190 patients suspected of osteoporosis risk were retrospectively evaluated. Four patients were excluded from the study due to secondary osteoporosis. Of the 186 patients who were included in the study, 97 (52.2%) were women and 89 (47.8%) were men. Prevalence of low bone mineral density (BMD) was 42%, in which osteoporosis was detected in 11.8% and osteopenia in 30.6% of the patients. Osteoporosis rate was higher at the young age group (18-45) and this difference was statistically significant (p=0.018). There was no significant difference between male and female sexes according to osteoporosis and osteopenia rates. Patients receiving polytherapy had higher osteoporosis rate and lower BMD compared to patients receiving monotherapy. Comparison of separate drug groups according to osteoporosis rate revealed that osteoporosis rate was highest in patient groups using VPA+ carbamazepine (CBZ) (29.4%) and VPA polytherapy (19.4%). Total of osteopenia and osteoporosis, or low BMD, was highest in VPA polytherapy (VPA+ non-enzyme-inducing AED [NEID]) and CBZ polytherapy (CBZ+NEID) groups, with rates of 58.3% and 55.1%, respectively. In addition, there was no significant difference between drug groups according to bone metabolism markers, vitamin D levels, and osteopenia-osteoporosis rates. Assuming bone health will be affected at an early age in epilepsy patients, providing lifestyle and diet recommendations, avoiding polytherapy including VPA and CBZ when possible, and evaluating bone metabolism at regular intervals are actions that should be applied in routine practice.

Clinical Neuroscience

Nerve conduction study and gastrocnemius H reflex response in rheumatoid arthritis

EMRE Ufuk, ORTANCIL Özgül, UNAL Aysun, KIRAN Sibel, SAPMAZ Perihan, ATASOY Tugrul

Objectives - We aimed to evaluate nerve conduction studies and gastrocnemius H reflex responses in rheumatoid arthritis (RA) patients and compared to the healthy adult subjects. Materials and methods - Twenty-six RA patients and twenty-two healthy adult subjects were included in the study. The nerve conduction study (NCS) findings and bilateral gastrocnemius H reflex responses were evaluated in all the groups. Age, gender, subcutaneous nodules, joint deformities, laboratory parameters, duration of disease, anti-rheumatic drug and steroid usage were recorded. Activity of disease was assessed using a 28-joint disease activity score (DAS28).The functional status was measured using the health assessment questionnaire (HAQ), pain intensity measured using a visual analog scale (VAS). Results - The rate of electroneuromyographic (ENMG) abnormalities was 73% in RA patients. The most common diagnosis was carpal tunnel syndrome (61.4%). There were no significant correlations between ENMG findings and clinical and laboratory features evaluated. Right H reflex latencies were statistically longer in RA patients (p=0.03). According to calculated cut-off levels, there were more subjects with longer H reflex latencies in RA patients. Conclusions - In this study, entrapment neuropathies were found common as independent identity from duration and severity of disease in RA patients. For H reflex latencies, cut-off values were longer in RA patients. It may provide information about the early neuropathic involvement of long peripheral nerves in RA patients. But this findings are needed to be supported by larger population study.


[Evaluation of quality of life following treatment with calcitonin nasal spray in patients with osteoporosis: preliminary results of the MERLIN study]


[INTRODUCTION - MERLIN (Management of Osteoporosis in Elderly with Calcitonin) is an open-label, multicenter, prospective, follow-up study conducted in Hungary, part of which is to assess the impact of treatment with Miacalcic, - an intranasal salmon calcitonin, on the quality of life (QoL) among patients with osteoporosis. In this paper we report the preliminary results of the MERLIN study. PATIENTS - The study initially involved 1949 senior patients (aged >65 years) to whom calcitonin was prescribed for osteoporosis according to the application instructions. Patients presented at outpatient clinics and consisted of two groups; they were either newly diagnosed or they had been receiving a therapy for osteoporosis other than calcitonin. METHODS - This latter group discontinued their previous treatment and all patients received 200 IU intranasal salmon calcitonin (SCT) once daily for three months. Patient and physician questionnaires were used to collect information on the patients' QoL (EQ-5D VAS) and their general well-being at baseline and at follow-up visits at week 4 and week 12. RESULTS - Calcitonin use was associated with improvements in all EQ-5D domains and component scores as well as in VAS. Patients with previously known osteoporosis who, switched to calcitonin therapy achieved better results (0,046 QALY), than the newly diagnosed patients (0,0405 QALY). CONCLUSIONS - We conclude that intranasal SCT 200 IU daily is safe and effective in improving QoL of both, male and female patients with low bone mineral density.The conclusions that can be drawn from this study are limited due to the lack of a control group and to the unblinded design. Further placebo-controlled studies are needed to confirm these results. Nevertheless, our study was the first in Hungary to evaluate the quality of life impact of an osteoporosis treatment, and hopefully it will be followed by more such studies directed to other osteoporosis treatments.]


[Bone metabolism and body mass index in postmenopausal women]

TÁRCZY Csaba, TOLDY Erzsébet, SZERB János, VARGA László

[INTRODUCTION - In addition to several other causes constitutional factors play an important role in the development of osteoporosis.Various aspects of bone metabolism were examined to explain the differences in bone density between women with low and high body mass index (BMI). PATIENTS AND METHOD - One hundred and ninetytwo postmenopausal women were included in the study. Bone density was measured by forearm densitometry.To assess bone formation, serum osteocalcin levels were measured, while the rate of bone absorption was estimated from C-terminal telopeptide levels of collagen type I measured in urine and blood. RESULTS - The prevalence of osteoporosis was higher in women with low BMI than in those with normal or higher BMI. Bone metabolism - both formation and absorption - was increased in both groups, however, in women with low BMI this increase was more pronounced and bone metabolism tended to be shifted to absorption compared to patients with normal or higher BMI. CONCLUSION - Postmenopausal lean women have accelerated bone metabolism compared to obese women. This fact and the shift to absorption may be the main reasons for the higher frequency of osteoporosis found by densitometry in women with low BMI than in those with higher BMI.]