scholarly journals Vitamin D receptor gene polymorphism, bone mineral density and 25(OH)D level in women with оsteopоrosis

Author(s):  
A. V. Rudenka ◽  
E. V. Rudenka ◽  
V. Yu. Samokhovec ◽  
K. V. Kobets ◽  
P. M. Marozik

Vitamin D plays an important role in bone metabolism and pathology. Although the VDR gene is one of the most studied determinants of bone mineral density (BMD) and osteoporosis (OP), its exact effects have yet to be established. Prediction of OP and/or fracture risk, based on individual genetic profile, is of high importance. The aim of our study was to develop prognostic model for postmenopausal OP individual risk evaluation in Belarusian women, based on the analysis of VDR gene variants. Case group included women with postmenopausal OP (n = 350), the control group comprised of women with normal BMD and without previous fragility fractures (n  =  243). VDR gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570 and Cdx2 rs11568820 variants were determined using TaqMan genotyping assays. We revealed a significant association of single ApaI A/A (p = 0.045), BsmI T/T (p = 0.015) and TaqI G/G (p = 0.005) variants and their A-T-G-haplotype (OR  =  4.6, p  =  0.003) with increased OP risk. Together with Cdx2 rs11568820, these variants correlated with BMD (p <0.05 in all cases). For the bearers of non-favorable alleles of VDR gene variants, the serum 25(OH)D level was significantly increased. The constructed from informative VDR gene variants model of individual OP risk evaluation possessed a good prognostic value (AUC = 0.79) with high sensitivity level (82.9 %) and average specificity (69.4 %). Our findings highlight the importance of analyzed VDR gene variants for personalized OP risk prediction.

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 837
Author(s):  
Pavel Marozik ◽  
Alena Rudenka ◽  
Katsiaryna Kobets ◽  
Ema Rudenka

Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the VDR gene. VDR gene polymorphism can influence individual predisposition to OP and response to vitamin D supplementation. The aim of this work was to reveal the effects of VDR gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570, and Cdx2 rs11568820 variants on bone mineral density (BMD), 25-hydroxyvitamin D level, and OP risk in Belarusian women. Methods. The case group included 355 women with postmenopausal OP, and the control group comprised 247 women who met the inclusion criteria. TaqMan genotyping assay was used to determine VDR gene variants. Results. Rs7975232 A/A, rs1544410 T/T, and rs731236 G/G single variants and their A-T-G haplotype showed a significant association with increased OP risk (for A-T-G, OR = 1.8, p = 0.0001) and decreased BMD (A-T-G, −0.09 g/cm2, p = 0.0001). The rs11568820 A-allele showed a protective effect on BMD (+0.22 g/cm2, p = 0.027). A significant dose effect with 25(OH)D was found for rs1544410, rs731236, and rs11568820 genotypes. Rs731236 A/A was associated with the 25(OH)D deficiency state. Conclusion. Our novel data on the relationship between VDR gene variants and BMD, 25(OH)D level, and OP risk highlights the importance of genetic markers for personalized medicine strategy.


2013 ◽  
Vol 141 (5-6) ◽  
pp. 329-332 ◽  
Author(s):  
Milena Dimic ◽  
Aleksandar Dimic ◽  
Zoran Milosevic ◽  
Jelena Vojinovic

Introduction. Vitamin D active metabolites deficit that is altered by negative calcium and phosphorus balance is a potential complication during long?term antiepileptic drug therapy. Objective. The aim of this study was to examine lumbar bone mineral density (BMD) in epileptic children receiving antiepileptic drug therapy longer than one year. methods. The examined sample consisted of 34 epileptic children, 18 male and 16 female, aged 6?12 (9.77?2.01) years, treated with carbamazepine, valproate, phenobarbital, lamotrigine or their combination without vitamin D supplementation. The lumbar spine BMD (L1?L4) was estimated by a Lunar densitometer and obtained results were compared with results of 35 matched population of healthy children from the control group. results. Lumbar BMD Z?score was significantly lower in female patients treated with antiepileptic therapy compared with those in the control group (?1.048?1.35 vs. ?0.399?0.518; p=0.03). Bone mineral density Z?score decrease of both gender groups receiving antiepileptic polytherapy was significantly lower compared to the control group (?1.153?0.938 vs. ?0.043?0.815; p=0.007). Therapy duration had no influence on the lumbar BMD level decrease either in boys (rxy=0.33; p=0.174) or in girls (rxy=0.02; p=0.935) treated with antiepileptic therapy. Conclusion. Our results have indicated that antiepileptic drug therapy usage longer than one year can have adverse affects on the lumbar spine BMD (L1?L4) in epileptic children, and that prophylactic vitamin D supplementation is also necessary in these patients.


2019 ◽  
Vol 32 (12) ◽  
pp. 1377-1384
Author(s):  
Işıl İnan-Erdoğan ◽  
Sinem Akgül ◽  
Kübra Işgın-Atıcı ◽  
Tuğba Tuğrul-Yücel ◽  
Koray Boduroğlu ◽  
...  

Abstract Background Anorexia nervosa (AN) is a serious eating disorder that is associated with decreased bone mineral density (BMD) and greater lifetime risk for fractures. The aim of this study was to determine the correlation between BMD and genetic polymorphisms in AN. Methods This case-control study analyzed vitamin D receptor (VDR) (VDRBsml, VDRFokl) and estrogen receptor (ESR) (ESR1Xbal, ESR1Pvull) polymorphisms in 45 adolescents diagnosed with AN and 46 age-matched healthy controls. BMD values of the AN group were classified as low or normal, and polymorphisms were compared between cases and controls. The effects of body mass index (BMI), duration of disease and amenorrhea on BMD were also evaluated. Results In girls with AN, a positive effect of the bb genotype of VDRBsmI polymorphism on femur Z-scores (p = 0.103) and of the Ff genotype of VDRFokI polymorphism on vertebra Z-scores (p = 0.097) was observed. In boys with AN, a positive effect of the Ff genotype of VDRFokI polymorphism on vertebra BMD (g/cm2) was detected (p = 0.061). No association was detected between ESR polymorphisms. An inverse relationship was observed between BMD and duration of illness and amenorrhea. A direct relationship was detected between BMD and BMI. Conclusions Specific VDR gene polymorphism genotypes may have positive effects on BMD in patients with AN. Additionally, the lack of association between ESR gene polymorphisms on BMD could be attributed to the low estrogen status of the patient.


Medicina ◽  
2013 ◽  
Vol 49 (4) ◽  
pp. 28 ◽  
Author(s):  
Pavel Marozik ◽  
Irma Mosse ◽  
Vidmantas Alekna ◽  
Ema Rudenko ◽  
Marija Tamulaitienė ◽  
...  

Background and Objective. Variation of osteoporosis in the population is the result of an interaction between the genotype and the environment, and the genetic causes of osteoporosis are being widely investigated. The aim of this study was to analyze the association between the polymorphisms of the vitamin D receptor (VDR), type I collagen (COL1A1), and lactase (LCT) genes and severe postmenopausal osteoporosis as well as bone mineral density (BMD). Material and Methods. A total of 54 women with severe postmenopausal osteoporosis and 77 controls (mean age, 58.3 years [SD, 6.2] and 56.7 years [SD, 7.42], respectively) were included into the study. The subjects were recruited at the City Center for Osteoporosis Prevention (Minsk, Belarus). Dual-energy x-ray absorptiometry was used to measure bone mineral density at the lumbar spine and the femoral neck. Severe osteoporosis was diagnosed in the women with the clinical diagnosis of postmenopausal osteoporosis and at least 1 fragility fracture. The control group included women without osteoporosis. Polymorphic sites in osteoporosis predisposition genes (ApaI, BsmI, TaqI, and Cdx2 of the VDR gene, G2046T of the COL1A1 gene, and T-13910C of the LCT gene) were determined using the polymerase chain reaction on the deoxyribonucleic acid isolated from dried bloodspots. Results. The data showed that the ApaI and BsmI polymorphisms of the VDR gene and T- 13910C of the LCT gene were associated with severe postmenopausal osteoporosis in the analyzed Belarusian women (P<0.01). A statistically significant positive correlation between the VDR risk genotypes ApaI and TaqI and bone mineral density was found (P<0.05). Conclusions. The findings of this study suggest that at least the ApaI and BsmI polymorphisms of the VDR gene and T-13910C of the LCT gene are associated with the risk of postmenopausal osteoporosis in our sample of the Belarusian women.


2003 ◽  
Vol 88 (7) ◽  
pp. 3372-3378 ◽  
Author(s):  
Yoshiji Yamada ◽  
Fujiko Ando ◽  
Naoakira Niino ◽  
Hiroshi Shimokata

We examined whether the −634C→G, 298C→T, and 2C→T polymorphisms of the IL-6, osteocalcin, and vitamin D receptor (VDR) genes, respectively, were associated, alone or in combination, with bone mineral density (BMD) in community-dwelling Japanese women (between 1108 and 1113) or men (between 1116 and 1130) aged 40–79 yr. The −634C→G polymorphism of the IL-6 gene and the 298C→T polymorphism of the osteocalcin gene were associated with BMD in postmenopausal women, with the respective GG and TT genotypes representing risk factors for reduced bone mass. IL-6 and osteocalcin genotypes showed additive effects on BMD for postmenopausal women. The 2C→T polymorphism of the VDR gene was associated with BMD in men, with the CT genotype contributing to reduced BMD. These results suggest that the IL-6 and osteocalcin genes are susceptibility loci for reduced BMD in postmenopausal women and that the VDR gene constitutes such a locus in men. The combined IL-6 and osteocalcin genotypes may prove informative for the assessment of osteoporosis in women.


Author(s):  
Homa Hajisadeghi ◽  
Mohammad Ali Azarbayjani ◽  
Mohammadreza Vafaeenasab ◽  
Maghsoud Peeri ◽  
Mohamad Mahdi Modares Mosala

Background: Postmenopausal osteoporosis progressively occurs due to alteration in the estrogen level during the menopause period, and subsequently elevates the risk of fractures. Objective: To evaluate the effect of regular resistance exercise, vitamin D, and calcium supplements on bone mineral content and density, postmenopausal rats used. Materials and Methods: In this experimental study, 72 female Sprague-Dawley rats (8-10 wk: 250 ± 15 gr) were ovariectomized and randomly divided into nine groups (n = 8/each): control, placebo, exercise (EX), exercise with vitamin D supplement (EX + D), exercise with calcium (EX + Ca), exercise with calcium and vitamin D (EX + Ca + D), vitamin D administration (D), calcium administration (Ca), and calcium and vitamin D (Ca + D) groups. Finally, the tail, hip, and lumbar bone mineral content, bone mineral density, bone thickness, and bone cells were evaluated in each group. Results: The tail, hip, and lumbar bone mineral density was increased significantly in the EX + Vit D group compared to the control group (p = 0.004, p = 0.007, p = 0.003, respectively). However, there were no significant changes in the bone mineral content of the hips and lumbar among the groups. Besides, bone thickness in the Ex + Vit D group was more than the other groups (p = 0.02). The number of osteoclast cells decreased in the Ca + Vit D, Ex + Ca, Ex + Vit D, and Ex + Vit D + Ca groups compared to the control group. Osteocyte numbers were increased only in the Ex + Vit D group. Conclusion: Resistance exercise in combination with vitamin D and calcium have a positive effect on the bone mineral density and bone mineral content and might be able to prevent or delay the osteoporosis among elderly women. However, additional researches are needed to assess the molecular pathways of this process. Key words: Menopause, Vitamin D, Exercise, Calcium, Bone mineral density.


2021 ◽  
Author(s):  
Shakhlo Muratova

Abstract In childhood and adolescence, a genetically determined bone mass accumulates, which ensures the strength of the skeleton throughout life. But with thyrotoxicosis, a separation of the processes of bone resorption and synthesis and the formation of sites of osteoporosis and osteosclerosis occur, leading to the loss of 10% of bone mass in 1 cycle of remodeling. Because of the lack of information about this phenomenon, our work aimed to study the state of bone mineral density and levels of calciotropic hormones in children and adolescents with thyrotoxicosis. The study was conducted by 19 children and adolescents with thyrotoxicosis. The control group consisted of 23 healthy children and adolescents. All studies were conducted in the RSSPMCE. Thyroid status, PTH and vitamin D were determined using a closed-type immunochemistry analyser Cobas e 411 Hitachi company HoffmanLeRoche (Switzerland) and its reagents. Bone mineral density was evaluated by dual-energy absorptiometry on a Stratos X-ray densitometer from DMS, France. The results of the study showed that the average value of the level of vitamin D in the group with thyrotoxicosis was 12.3 ± 1.1 ng/ml, against 20.4 ± 6.2 ng/ml of the control group, while its deficiency was diagnosed in 84.2%, and its insufficiency - in 15.8% of pediatric patients. In the group with thyrotoxicosis, the average level of PTH was lower and amounted to 45.1 ± 23.9 ng/ml (p < 0.05) compared with the control (49.2 ± 21.3 ng/ml); hypoparathyroidism was found in 4.9 times more often than among healthy children, and 21.1% showed an increase in the level of PTH. In children and adolescents with thyrotoxicosis Z- index of the femoral neck, lumbar vertebrae and the general body were significantly lower than in the control group. 36.8% of children with thyrotoxicosis have osteoporosis. Conclusion: Thyrotoxicosis in children and adolescents causes a decrease in BMD and majorly increases the development of osteoporosis.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Georgia Andriana Georgopoulou ◽  
Marios Papasotiriou ◽  
Theodoros Ntrinias ◽  
Eirini Savvidaki ◽  
Dimitrios Goumenos ◽  
...  

Abstract Background and Aims Following kidney transplantation despite improvement of kidney function, calcium and phosphate turnover and vitamin D metabolism, the risk of fractures is high. Moreover, most kidney transplant recipients (KTRs) have preexisting CKD mineral bone disease and osteopenia or osteoporosis are prevalent complications aggravated by immunosuppressive therapy, especially glucocorticoids and cyclosporine, which negatively affect KTRs risk of fractures and mortality. Treatment with bisphosphonates has been suggested to improve bone mineral density (BMD) in KTRs, nevertheless the evidence of such a therapeutic approach are scarce. The aim of this study is to evaluate the effectiveness of bisphosphonates treatment in post kidney transplantation BMD. Method We conducted a single center retrospective analysis on the effect of bisphosphonate treatment on bone mineral density in patients after kidney transplantation. Patients eligible for entering the study were adult (&gt;18 years) KTRs with two valid BMD measurements either by hip or spine dual energy X-ray (DEXA). The primary BMD measurement was performed before the initiation of bisphosphonate treatment. We also evaluated the BMD course in KTRs who had two valid measurements after operation but received no treatment (control group). Patients that received other forms or treatment (calcitriol or vitamin D analogs) were excluded from the study. BMD was evaluated using the average t-score at the examined site of interest. Kidney function was evaluated with eGFR, using the CKD-EPI formula. Results Overall, out of 185 KTRs actively monitored, 26 met the aforementioned criteria and were included in the study. Bisphosphonate treatment was administered in 16 patients (10 men) with a mean age of 53.4±10.2 years while 10 patients (6 men) received no treatment (mean age 45.2±14.3 years, p=ns). There were no differences in baseline kidney function (eGFR), BMD, body mass index, or other baseline clinical characteristics between those patients that received treatment and the control group. Treatment was initiated 1.1±2.4 years after kidney transplantation, while in 9 patients was initiated in the early post transplant period (one month after operation) and overall it was administered for a period of 3.9±2.3 years. Bisphosphonates were administered in all patients as per os treatment (10 patients received risedronate sodium, 4 ibandronic acid and 2 alendronate sodium). Bone density was improved significantly in all but 2 patients that received treatment (BMD from -1.91±1.3 to -1.3±1.4, p=0.0114). Those that received no treatment showed an overall minor non significant bone density improvement (BMD from -1.53±1.2 to -1.3±0.8, p=ns) after 4.2±1.4 years of follow up. ΔBMD was also found higher in treated patients (0.66±0.86 vs. 0.23±0.85, p=ns). Kidney function was not affected by treatment (eGFR before vs. after treatment, 65.3±14.4 vs. 65.5±15.2 ml/min/1.73 m2, p=ns, respectively) and remained unchanged in those that received no treatment as well. Conclusion Treatment with bisphosphonates is a safe and effective treatment option that significantly improves BMD after kidney transplantation.


2010 ◽  
Vol 104 (1) ◽  
pp. 100-107 ◽  
Author(s):  
George Moschonis ◽  
Ioanna Katsaroli ◽  
George P. Lyritis ◽  
Yannis Manios

Low dietary Ca intake and vitamin D insufficiency have been implicated as part of the aetiology leading to osteoporosis. The aim of the present study was to examine the effects of a 30-month dietary intervention that combined supplementation of dairy products fortified with Ca and vitamin D3 and lifestyle and nutrition counselling sessions on bone mineral density (BMD) of postmenopausal women. Sixty-six postmenopausal women (aged 55–65 years) were randomised into a dietary group (DG; n 35), receiving daily and for the first 12 months 1200 mg Ca and 7·5 μg vitamin D3, while for the next 18 months of intervention 1200 mg Ca and 22·5 μg vitamin D3 through fortified dairy products, and a control group (CG; n 31) receiving neither counselling nor dairy products. The DG was found to have more favourable changes in arms (P < 0·001), total spine (P = 0·001) and total body BMD (P < 0·001) compared with the CG. Furthermore, a significant increase was observed for the DG in lumbar spine BMD (0·056; 95 % CI 0·009, 0·103), which was not found to differentiate significantly compared with the change observed in the CG (P = 0·075). In conclusion, the present study showed that intakes of vitamin D of about 22·5 μg/d and of Ca close to the recommended level of 1200 mg from fortified dairy foods for 30 months, with compliance ensured by lifestyle and nutrition counselling sessions, can induce favourable changes in arms, total spine and total body BMD of postmenopausal women.


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