Vitamin D Receptor Polymorphisms Correlate to Parathyroid Cell Function in Primary Hyperparathyroidism1

Abstract Calcitriol acts via its receptor (VDR) and inhibits PTH secretion and parathyroid cell proliferation. Increased prevalence of the polymorphic VDR alleles b, a, and T has been demonstrated in sporadic primary hyperparathyroidism. Sixty-two patients with primary hyperparathyroidism due to parathyroid adenoma (mean age, 69.5 ± 1.4 yr) were genotyped for these VDR polymorphisms. Dispersed cells of the adenomas were exposed to increasing concentrations of extracellular Ca2+ and analyzed for PTH release and cytoplasmic Ca2+ concentrations. Ca2+-mediated PTH inhibition exhibited higher ED50 and less suppression in the cells of patients who were homozygous for the b, a, and T alleles (P < 0.05–0.10). When analyzing haplotypes, the patients with baT demonstrated a ED50 of 1.81 ± 0.15 vs. 1.29 ± 0.10 for BAt (P < 0.05). As VDR alleles were unrelated to parathyroid intracellular Ca2+, influences of polymorphic VDR alleles on PTH secretion seem to involve mechanisms other than the Ca2+-sensing protein of the parathyroid cell surface.

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Vitamin D Receptor Polymorphisms Correlate to Parathyroid Cell Function in Primary Hyperparathyroidism

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.82.6.1772 ◽

1997 ◽

Vol 82 (6) ◽

pp. 1772-1775 ◽

Cited By ~ 13

Author(s):

T. Carling

Keyword(s):

Vitamin D ◽

Primary Hyperparathyroidism ◽

Vitamin D Receptor ◽

Cell Function ◽

Parathyroid Cell

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

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.84.5.5707 ◽

1999 ◽

Vol 84 (5) ◽

pp. 1690-1694

Author(s):

Pamela Correa ◽

Jonas Rastad ◽

Peter Schwarz ◽

Gunnar Westin ◽

Andreas Kindmark ◽

...

Keyword(s):

Bone Mineral Density ◽

Vitamin D ◽

Primary Hyperparathyroidism ◽

Bone Mineral ◽

Vitamin D Receptor ◽

Ribonucleic Acid ◽

Parathyroid Cell ◽

Mineral Density ◽

Foki Polymorphism ◽

Messenger Ribonucleic Acid

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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Vitamin D Receptor Allelesb,a, andT: Risk Factors for Sporadic Primary Hyperparathyroidism (HPT) but Not HPT of Uremia or MEN 1

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1997.6086 ◽

1997 ◽

Vol 231 (2) ◽

pp. 329-332 ◽

Cited By ~ 30

Author(s):

Tobias Carling ◽

Andreas Kindmark ◽

Per Hellman ◽

Lars Holmberg ◽

Göran Åkerström ◽

...

Keyword(s):

Risk Factors ◽

Vitamin D ◽

Primary Hyperparathyroidism ◽

Vitamin D Receptor ◽

Men 1 ◽

Sporadic Primary Hyperparathyroidism

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Study of vitamin D receptor gene polymorphisms in a cohort of myocardial infarction patients with coronary artery disease

BMC Cardiovascular Disorders ◽

10.1186/s12872-021-01959-x ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Damir Raljević ◽

Viktor Peršić ◽

Elitza Markova-Car ◽

Leon Cindrić ◽

Rajko Miškulin ◽

...

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Vitamin D ◽

Coronary Artery ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Vdr Gene ◽

Vdr Polymorphism ◽

Vdr Gene Polymorphisms ◽

Vdr Polymorphisms

Abstract Background Vitamin D deficiency is associated with cardiovascular diseases, including coronary artery diseases (CAD). As vitamin D manifests its biological function through its vitamin D receptor (VDR), VDR gene polymorphisms potentially affect VDR functionality and vitamin D activity. Therefore, the objective of this study was to analyze three well-studied VDR gene polymorphisms—Fok1 (rs2228570), BsmI (rs1544410) and Taq1 (rs731236)—in a cohort of CAD patients after acute myocardial infarction. Methods In the presented cross-sectional study, 155 participants with CAD after acute myocardial infarction and 104 participants in a control group without CAD were enrolled. The participants in both groups were Caucasians of European origin. The genotyping of VDR polymorphisms rs2228570, rs1544410 and rs731236 was assessed by RT-PCR. Results The results show an association between the T/T genotype of the BsmI (rs1544410) and the G/G genotype of the Taq1 (rs731236) VDR polymorphism and CAD patients after acute myocardial infarction. There was no association between the Fok1 (rs2228570) VDR polymorphism and CAD patients after acute myocardial infarction. Conclusion The presented results suggest a potential association of the BsmI (rs1544410) and Taq1 (rs731236) VDR polymorphisms with CAD patients after myocardial infarction.

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1098 - Myeloid Vitamin D Receptor Regulates Paneth Cell Function and Intestinal Homeostasis

Gastroenterology ◽

10.1016/s0016-5085(18)31113-2 ◽

2018 ◽

Vol 154 (6) ◽

pp. S-216-S-217 ◽

Cited By ~ 1

Author(s):

Danika Bakke ◽

Rong Lu ◽

Annika Agrawal ◽

Yong-Guo Zhang ◽

Jun Sun

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Cell Function ◽

Paneth Cell ◽

Intestinal Homeostasis

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Chief cell and clear cell parathyroid adenoma do not influence clinical and biochemical expression of the sporadic primary hyperparathyroidism

Endocrine ◽

10.1007/s12020-012-9810-0 ◽

2012 ◽

Vol 43 (2) ◽

pp. 440-443 ◽

Cited By ~ 2

Author(s):

Shweta Varshney ◽

Sanjay Kumar Bhadada ◽

Uma Nahar ◽

Viral N. Shah ◽

Anil Bhansali ◽

...

Keyword(s):

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Clear Cell ◽

Chief Cell ◽

Sporadic Primary Hyperparathyroidism

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Vitamin D Receptor Gene (VDR) Polymorphisms Are Not Associated with Autoimmune Thyroid Disease Risk in Turner Syndrome Patients

10.1210/endo-meetings.2011.part4.p8.p3-594 ◽

2011 ◽

pp. P3-594-P3-594

Author(s):

Bianca Bianco ◽

Ieda Therezinha do Nascimento Verreschi ◽

Kelly Cristina Oliveira ◽

Alexis Dourado Guedes ◽

Caio Parente Barbosa ◽

...

Keyword(s):

Vitamin D ◽

Turner Syndrome ◽

Vitamin D Receptor ◽

Thyroid Disease ◽

Autoimmune Thyroid Disease ◽

Disease Risk ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Autoimmune Thyroid ◽

Vdr Polymorphisms

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VITAMIN D RECEPTOR GENE POLYMORPHISMS AND HAPLOTYPE ANALYSIS IN TYPE 2 DIABETES MELLITUS PATIENTS FROM NORTH INDIA

Asian Journal of Pharmaceutical and Clinical Research ◽

10.22159/ajpcr.2017.v10i10.20453 ◽

2017 ◽

Vol 10 (10) ◽

pp. 248

Author(s):

Nancy Taneja ◽

Rajesh Khadgawat ◽

Shalini Mani

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Vitamin D ◽

Type 2 Diabetes Mellitus ◽

Vitamin D Receptor ◽

Mutant Allele ◽

Haplotype Analysis ◽

Vdr Gene ◽

Vdr Polymorphisms

Objective: Vitamin D receptor (VDR) mediated Vitamin D signaling is important for expression of insulin gene and glucose transporters, which help in glucose uptake by cells. Current evidence suggests that four common polymorphisms (FokI, BsmI, ApaI, TaqI) of VDR gene are associated with Type 2 diabetes mellitus (T2DM) in different populations. However, there is a scarcity of data on VDR polymorphisms from Indian population.Methods: In the current study, total genomic DNA was isolated from 100 well-characterized T2DM patients and 100 healthy controls. We investigated the prevalence of FokI and ApaI polymorphisms in VDR gene of these patients by polymerase chain reaction-restriction fragment length polymorphism-based method. Taking help of our previous published data on TaqI and BsmI polymorphisms in same patients, the haplotype study was also conducted. Statistical analysis of data was performed using SPSS 21.0 software. Haplotype and linkage disequilibrium analysis was performed by Haploview software.Results: Both the wild (TT) and mutant (CC) genotype of FokI polymorphism showed a significant difference between patients and controls (p<0.001 and p<0.001, respectively). The frequency of mutant allele (C) was also significantly higher in T2DM patients than the controls (p<0.001). In case of ApaI, frequency of wild (GG) and mutant (CC) genotype was significantly different in patients and controls (p=0.017 and p=0.034). As per haplotype analysis, the CACT haplotype was predicted to be of significance in patients and consists of mutant alleles of three polymorphisms (FokI, BsmI, ApaI). Conclusion: Our study supports the association of FokI and ApaI polymorphism in T2DM. The haplotype analysis also indicates that the combinations of mutant allele of different VDR polymorphisms are probably responsible for increased susceptibility of these individuals toward T2DM.

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Overlap of Pseudohypoparathyroidism and Primary Hyperparathyroidism in a Patient: Just a Coincidence?

World Journal of Endocrine Surgery ◽

10.5005/jp-journals-10002-1075 ◽

2011 ◽

Vol 3 (3) ◽

pp. 128-130

Author(s):

Ana Karena Neukirch ◽

Christian Heckmann ◽

Norbert Weyerbrock ◽

Silke Günther ◽

Cornelia Dotzenrath

Keyword(s):

Vitamin D ◽

Primary Hyperparathyroidism ◽

Parathyroid Adenoma ◽

Female Patient ◽

Oral Calcium ◽

Albright’S Hereditary Osteodystrophy ◽

Lower Position ◽

The Right ◽

Inactivating Mutation ◽

Gnas1 Gene

ABSTRACT A 56-year-old female patient with the phenotype of Albright's hereditary osteodystrophy (AHO) and pseudohypoparathyroidism 1a (PHP) diagnosed in 1987 was shown to have a heterozygote inactivating mutation on the GNAS1 gene. The patient has been treated with oral calcium and vitamin D since diagnosis of PHP 1a and developed primary hyperparathyroidism (pHPT) in 2009. Ultrasound as well as 99Tcsestamibi could demonstrate a lesion in the right lower position. Intraoperatively, a solitary parathyroid adenoma was found and resected leading to a ‘normalization’ of PTH and calcium. This case highlight is the rare coincidence of PHP, AHO and pHPT.

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