[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


[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]






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[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.]


[Bone mineral density and diabetes mellitus - First results]


[INTRODUCTION - Data on bone mineral density (BMD) in diabetes mellitus are contradictory in the literature. Early studies described a decreased bone mineral density in type 1 diabetes mellitus (T1DM), but recent studies report no osteopenia in T1DM.The BMD may depend on the quality of treatment for diabetes mellitus and on the presence of chronic complications. In type 2 diabetes mellitus (T2DM) the BMD is not decreased, occasionally it can even be increased. PATIENTS AND METHODS - Bone mineral density was measured in 122 regularly controlled diabetic patients (T1DM: n=73, mean age: 43.6±11.1 years,T2DM: n=49, mean age: 61.8±9.8 years) by dual energy X-ray absorptiometry at the lumbar spine and at the femur. Results were compared to those of 40 metabolically healthy control persons with a mean age of 47.5±11.9 years.The patients’ carbohydrate metabolism was assessed by the average HbA1c level of the last three years.These values were 7.9±1.4 % in T1DM, and 7.5±1.7 % in T2DM. BMDs were classified based on the T-score and Z-score using the WHO criteria. RESULTS - There was no significant difference in T1DM or in T2DM compared to the reference group in the prevalence of either osteoporosis or of osteoporosis and osteopenia combined. CONCLUSION - BMD was not found to be decreased in patients with well-controlled metabolism compared to healthy controls.]


[„HOPE for people with fracture”: Results of the HOPE (Hungarian Osteoporosis Project for Elderly) study]


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Hungarian Radiology

[A paradox of articular protective phenomenon: more serious-damaged rudimentary hand in rheumatoid arthitis]

SZÁNTÓ Dezső, SZŰCS Gabriella, DITRÓI Edit

[INTRODUCTION - The joints have been secured from rheumatoid arthritis by diminution of biomechanical effeciency. This effect was analyzed and named articular protective phenomenon three decades ago. CASE REPORT - A case of bilateral rheumatoid arthritis associated with unilateral developmental abnormality hand and bronchial asthma in a 35 year old female patient is presented. Her left 2nd, 3rd, 4th and 5th metacarpal bones moreover her fingers had not evolved. The patient has been treated by antiasthmatic steroid drugs for five years. Rheumatoid disorders of the affected left hand were more severe, than the abnormality of the normal upper limb. Eight years later the most severe bony lesions (ankylosis and mutilation) appeared on this side, only. CONCLUSION - The patient's hand was not saved by inborn bone defect in rheumatoid arthritis. The absence of articular protective phenomenon can be explained by the undisturbed innervation of limb, the motility of hypotrophic carpus besides to steroid-induced suppression.]