scholarly journals Vitamin D Status, Bone Mineral Density and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 837
Author(s):  
Pavel Marozik ◽  
Alena Rudenka ◽  
Katsiaryna Kobets ◽  
Ema Rudenka
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Gene Polymorphism ◽  
Bone Mineral ◽  
Dose Effect ◽  
Control Group ◽  
Gene Variants ◽  
Mineral Density ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism

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.

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

2020 ◽  
Vol 17 (4) ◽  
pp. 480-492
Author(s):  
A. V. Rudenka ◽  
E. V. Rudenka ◽  
V. Yu. Samokhovec ◽  
K. V. Kobets ◽  
P. M. Marozik
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Bone Mineral ◽  
Risk Evaluation ◽  
Individual Risk ◽  
Control Group ◽  
Genetic Profile ◽  
Gene Variants ◽  
Mineral Density ◽  
Vdr Gene

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.

scholarly journals Lack of Association between Body Weight, Bone Mineral Density and Vitamin D Receptor Gene Polymorphism in Normal and Osteoporotic Women

1999 ◽  
Vol 15 (4) ◽  
pp. 221-227 ◽  
Author(s):  
Massimo Poggi ◽  
Stefano Aterini ◽  
Laura Nicastro ◽  
Vincenzo Chiarugi ◽  
Marco Ruggiero ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
At Risk ◽  
Vitamin D ◽  
Body Weight ◽  
Gene Polymorphism ◽  
Bone Mineral ◽  
Vitamin D Receptor ◽  
Mineral Density ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism

In an ethnically homogeneous population of women living in Tuscany, Italy, the relationships between age, body weight, bone mineral density and the vitamin D receptor (VDR) gene polymorphism were studied, with the objective of recognizing patients at risk for osteoporosis. In 275 women bone mineral density was measured by Dual Energy X-rays Absorptiometry (DEXA). In 50 of them the individual genetic pattern for VDR was evaluated by DNA extraction followed by PCR amplification of the VDR gene, and digestion with the restriction enzyme BsmI. Age and bone mineral density were inversely related (R2= 0.298). Body weight was associated with bone mineral density (R2= 0.059), but not with age. In osteoporotic women, mean (± SD) body weight was 59.9 ± 6.5 Kg, lower than that recorded in non osteoporotic women (64.2 ± 9.4 Kg), even though not significantly different (p = 0.18). No association was found between VDR gene polymorphism, bone density or body weight. The performance of anthropometric and genetic components appear to be poor, and, at least for the time being, bone mineral density measurement by means of MOC-DEXA represents the optimal method to detect women at risk for postmenopausal osteoporosis.

scholarly journals Effect of VDR gene polymorphism on bone mineral density in puerperants

2018 ◽  
Vol 67 (5) ◽  
pp. 4-12
Author(s):  
Olga S. Bibkova ◽  
Dmitry S. Sudakov ◽  
Evdokia O. Bogdanova ◽  
Olga V. Galkina ◽  
Yulia R. Dymarskaya ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Gene Polymorphism ◽  
Bone Mineral ◽  
Genetic Test ◽  
Mineral Density ◽  
Vdr Gene ◽  
Vdr Gene Polymorphism

This study involved 89 postpartum and 97 nonpregnant women aged 20 to 35 years. The results of the genetic test were compared to bone mineral density (BMD) values. The lowest values of BMD were detected in the puerperas with the BB genotype of the BsmI gene, the tt genotype of the TaqI gene, the aa genotype of the ApaI gene, and the ff genotype of the FokI gene. In all the examined sections of the skeleton, with the combination of the four unfavorable genes, BMD values were the lowest.

scholarly journals Bone mineral density in children with long-term antiepileptic therapy

2013 ◽  
Vol 141 (5-6) ◽  
pp. 329-332 ◽  
Author(s):  
Milena Dimic ◽  
Aleksandar Dimic ◽  
Zoran Milosevic ◽  
Jelena Vojinovic
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Drug Therapy ◽  
Antiepileptic Drug ◽  
Bone Mineral ◽  
Control Group ◽  
Mineral Density ◽  
Antiepileptic Therapy ◽  
Epileptic Children ◽  
Antiepileptic Drug Therapy

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.

Effects of vitamin D and estrogen receptor polymorphisms on bone mineral density in adolescents with anorexia nervosa

2019 ◽  
Vol 32 (12) ◽  
pp. 1377-1384
Author(s):  
Işıl İnan-Erdoğan ◽  
Sinem Akgül ◽  
Kübra Işgın-Atıcı ◽  
Tuğba Tuğrul-Yücel ◽  
Koray Boduroğlu ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
Estrogen Receptor ◽  
Anorexia Nervosa ◽  
Bone Mineral ◽  
Mineral Density ◽  
Vdr Gene ◽  
Positive Effects ◽  
Z Scores ◽  
Positive Effect

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.

scholarly journals Phenotypic manifestations of arterial hypertension according to polymorphism of vitamin D receptor gene

2021 ◽  
Vol 25 (1(97)) ◽  
pp. 89-94
Author(s):  
Yu. Repchuk ◽  
L. Sydorchuk
Keyword(s):  
Vitamin D ◽  
Gene Polymorphism ◽  
Arterial Hypertension ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Control Group ◽  
Vitamin D Receptor Gene ◽  
Vdr Gene ◽  
Qualitative Polymerase Chain Reaction ◽  
Vdr Gene Polymorphism

Objective. To determine the phenotypic manifestations of essential arterial hypertension (EAH) according to the vitamin D receptor gene polymorphism (VDR rs10735810, rs2228570).Material and methods. The case-control study involved 100 patients with EAH stage II, 1-3 degrees of blood pressure (BP), high and very high cardiovascular risk, 21% (21) men, 79% (79) women. The mean age of patients was 59.86 ± 6.22 y.o. The control group consisted of 60 healthy individuals, comparable in age and gender. To study the VDR gene polymorphism (rs10735810, rs2228570) performed a qualitative polymerase chain reaction in real-time. Results. Almost half of the patients with elevated normal BP (44.4%) and 34% of patients with EAH 2-3 d. there is concomitant diabetes mellitus (DM) type 2, while for EAH 1 d. it is only 19%. Obesity of 1-3 degrees was shown in 53% of patients with EAH: average EAH of 1 d. - 21%, among the EAH 2-3 d. - 25%. In the control group, 16% suffered from obesity. The distribution of VDR gene polymorphism genotypes according to the presence of DM showed that it was present in 35% of patients with AA-genotype, which is 1.6 times more often than in patients with GG-genotype (22%). Most smokers among patients with GG-genotype (26%), which is twice as common as those with AA- and AG-genotype (13% and 14%, respectively). Obesity of 1-3 degrees most often met among carriers of GG-genotype - 74%, and in the control group 14%. An elevated level of waist-hip ratio (WHR) among women with EAH was in 80% of the AA-genotype carriers, in the control group, all women had normal values. In 76% of the AG-genotype carriers and in 81% of the GG-genotype carriers, the WHR was increased by 2.3 and 2.8 times, respectively, that in the control group. Deviations of systolic and diastolic BP according to the VDR gene polymorphic variants have not been established.Conclusions. The AA-genotype is associated with DM 2 and with elevated WHR in women; GG-genotype - with elevated BMI, especially in men.

Sign in / Sign up

Export Citation Format

Share Document