The Vitamin D Receptor (VDR) Start Codon Polymorphism in Primary Hyperparathyroidism and Parathyroid VDR Messenger Ribonucleic Acid Levels1

Vitamin D regulates parathyroid cell proliferation and secretion of PTH. Increased prevalence of the polymorphic vitamin D receptor (VDR) alleles b, a, and T has been reported in sporadic primary hyperparathyroidism (PHPT), suggesting that these genetic variants may predispose to the disease. Recently, another polymorphism in the VDR gene was related to bone mineral density, and this VDR-FokI polymorphism causes different lengths of the VDR, implying possible functional consequences. The VDR-FokI polymorphism was studied in 182 postmenopausal women with sporadic PHPT and in matched controls. No significant differences in distribution of the VDR-FokI genotypes could be detected between the groups, although there was a tendency toward overrepresentation of the F allele in the PHPT patients (P = 0.05). There were no significant associations with age, serum calcium, serum PTH, bone mineral density, or parathyroid tumor weight. The VDR genotypes were unrelated to VDR and PTH messenger ribonucleic acid levels in the parathyroid adenomas of 42 PHPT patients. In 23 PHPT patients, the Ca2+-PTH set-points were determined in vivo and were unrelated to the VDR alleles. We suggest that the VDR-FokI polymorphism has at most a minor pathogenic importance in the development of PHPT.

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The vitamin D receptor gene polymorphism Apa1 influences bone mineral density in patients with primary hyperparathyroidism

Experimental and Clinical Endocrinology & Diabetes ◽

10.1055/s-0034-1372056 ◽

2014 ◽

Vol 122 (03) ◽

Author(s):

EA Lien ◽

G Mellgren ◽

MHE Christensen

Keyword(s):

Bone Mineral Density ◽

Vitamin D ◽

Primary Hyperparathyroidism ◽

Gene Polymorphism ◽

Bone Mineral ◽

Vitamin D Receptor ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Mineral Density ◽

Receptor Gene Polymorphism

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Vitamin-D-Receptor Genotypes and Bone-Mineral Density in Postmenopausal Women: Interaction with Physical Activity

Journal of Aging and Physical Activity ◽

10.1123/japa.17.1.31 ◽

2009 ◽

Vol 17 (1) ◽

pp. 31-45 ◽

Cited By ~ 9

Author(s):

Paulo Gentil ◽

Tulio Cesar de Lima Lins ◽

Ricardo Moreno Lima ◽

Breno Silva de Abreu ◽

Dario Grattapaglia ◽

...

Keyword(s):

Physical Activity ◽

Bone Mineral Density ◽

Vitamin D ◽

Femoral Neck ◽

Bone Mineral ◽

Vitamin D Receptor ◽

Expectation Maximization Algorithm ◽

Activity Level ◽

Mineral Density ◽

Foki Polymorphism

The current study investigated the association between vitamin-D-receptor (VDR) genotypes with bone-mineral density (BMD) and its interaction with physical activity level (PAL). Individuals in a sample of 192 volunteers (67.84 ± 5.23 years) underwent BMD evaluation and were genotyped for VDR ApaI, BsmI, FokI, and TaqI polymorphisms. Haplotypes were reconstructed through expectation-maximization algorithm, and regression-based haplotype-specific association tests were performed with studied phenotypes. None of the polymorphisms were associated with BMD at any site; however, haplotype was associated with femoral-neck and Ward’s-triangle BMD. Interaction between PAL and VDR genotypes was significant for the FokI polymorphism at femoral-neck and Ward’s-triangle BMD. The FokI T/T genotype was associated with higher BMD in active women. It was concluded that VDR haplotypes, but not genotypes, are associated with femoral-neck and Ward’s-triangle BMD in post-menopausal women. Moreover, the results suggest that VDR FokI polymorphism might be a potential determinant of BMD response to physical activity.

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Predictors and relationships of serum 25 hydroxyvitamin D concentration with bone turnover markers, bone mineral density, and vitamin D receptor genotype in Emirati women

Bone ◽

10.1016/j.bone.2006.05.010 ◽

2006 ◽

Vol 39 (5) ◽

pp. 1136-1143 ◽

Cited By ~ 61

Author(s):

Hussein F. Saadi ◽

Nicolaas Nagelkerke ◽

Sheela Benedict ◽

Hussein S. Qazaq ◽

Erica Zilahi ◽

...

Keyword(s):

Bone Mineral Density ◽

Vitamin D ◽

Bone Turnover ◽

Bone Mineral ◽

Vitamin D Receptor ◽

Bone Turnover Markers ◽

Mineral Density ◽

Hydroxyvitamin D ◽

25 Hydroxyvitamin D ◽

Turnover Markers

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P114 Effect of vitamin D on parathyroid hormone, serum calcium and bone mineral density in patients with primary hyperparathyroidism being managed conservatively

Rheumatology ◽

10.1093/rheumatology/keab247.110 ◽

2021 ◽

Vol 60 (Supplement_1) ◽

Author(s):

Mahrukh Khalid ◽

Vismay Deshani ◽

Khalid Jadoon

Keyword(s):

Bone Mineral Density ◽

Vitamin D ◽

Parathyroid Hormone ◽

Primary Hyperparathyroidism ◽

Bone Mineral ◽

Serum Calcium ◽

Mineral Density ◽

Neck Of Femur ◽

Vitamin D Levels ◽

Significant Difference

Abstract Background/Aims Vitamin D deficiency is associated with more severe presentation of primary hyperparathyroidism (PTHP) with high parathyroid hormone (PTH) levels and reduced bone mineral density (BMD). We analyzed data to determine if vitamin D levels had any impact on PTH, serum calcium and BMD at diagnosis and 3 years, in patients being managed conservatively. Methods Retrospective analysis of patients presenting with PHPT. Based on vitamin D level at diagnosis, patients were divided into two groups; vitamin D sufficient (≥ 50 nmol/L) and vitamin D insufficient (≤ 50 nmol/L). The two groups were compared for age, serum calcium and PTH levels at diagnosis and after mean follow up of 3 years. BMD at forearm and neck of femur (NOF) was only analyzed in the two groups at diagnosis, due to lack of 3 year’s data. Results There were a total of 93 patients, 17 males, mean age 70; range 38-90. Mean vitamin D level was 73.39 nmol/L in sufficient group (n = 42) and 34.48 nmol/L in insufficient group (n = 40), (difference between means -38.91, 95% confidence interval -45.49 to -32.33, p < 0.0001). There was no significant difference in age, serum calcium and PTH at the time of diagnosis. After three years, there was no significant difference in vitamin D levels between the two groups (mean vitamin D 72.17 nmol/L in sufficient group and 61.48 nmol/L in insufficient group). Despite rise in vitamin D level in insufficient group, no significant change was observed in this group in PTH and serum calcium levels. BMD was lower at both sites in vitamin D sufficient group and difference was statistically significant at NOF. Data were analyzed using unpaired t test and presented as mean ± SEM. Conclusion 50% of patients presenting with PHPT were vitamin D insufficient at diagnosis. Vitamin D was adequately replaced so that at 3 years there was no significant difference in vitamin D status in the two groups. Serum calcium and PTH were no different in the two groups at diagnosis and at three years, despite rise in vitamin D levels in the insufficient group. Interestingly, BMD was lower at forearm and neck of femur in those with sufficient vitamin D levels and the difference was statistically significant at neck of femur. Our data show that vitamin D insufficiency does not have any significant impact on PTH and calcium levels and that vitamin D replacement is safe in PHPT and does not impact serum calcium and PTH levels in the short term. Lower BMD in those with adequate vitamin D levels is difficult to explain and needs further research. Disclosure M. Khalid: None. V. Deshani: None. K. Jadoon: None.

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