The Vitamin D Receptor (VDR) Gene Polymorphisms in Turkish Brain Cancer Patients

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP).Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles.Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.

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BsmI polymorphism in the vitamin D receptor gene is associated with 25-hydroxy vitamin D levels in individuals with cognitive decline

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20180116 ◽

2018 ◽

Vol 76 (11) ◽

pp. 760-766 ◽

Cited By ~ 1

Author(s):

Ana Carolina R. de Oliveira ◽

Carolina A. Magalhães ◽

Cristina M. G. Loures ◽

Vanessa G. Fraga ◽

Leonardo C. de Souza ◽

...

Keyword(s):

Vitamin D ◽

Cognitive Decline ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Vdr Gene ◽

Bsmi Polymorphism ◽

Vitamin D Levels ◽

Vdr Gene Polymorphisms ◽

Significant Difference ◽

25 Hydroxy Vitamin D

ABSTRACT Elderly people are at a high risk of developing vitamin D (VitD) deficiency due to both decreased intake and cutaneous synthesis. Most of the biological actions of VitD are mediated by the vitamin D receptor (VDR), which is present in neurons and glial cells of the hippocampus, and in the cortex and subcortical nuclei, essential areas for cognition. It is known that VDR gene polymorphisms may decrease the VDR affinity for VitD. Objective: The present study aimed to investigate the influence of VitD levels on cognitive decline in patients with dementia due to Alzheimer's disease (AD, n = 32) and mild cognitive impairment (MCI, n = 15) compared to cognitively healthy elderly (n = 24). We also evaluated the association of VDR gene polymorphisms with cognitive disturbance. Methods: Four polymorphisms on the VDR gene were studied, namely, BsmI, ApaI, FokI and TaqI, by polymerase chain reaction-restriction fragment length polymorphism. Serum levels of 25-hydroxy vitamin D (25(OH)D) were determined by high performance liquid chromatography. Results: No significant difference in 25(OH)D levels or genotypic/allelic frequencies was observed between the groups. Deficiency of 25(OH)D was more frequently observed in women. The AA/AG genotypes of the BsmI polymorphism was associated with sufficient 25(OH)D levels, while the GG genotype of this same polymorphism was associated to insufficient levels in the cognitively-impaired group (individuals with AD or MCI). Conclusions: The data obtained do not confirm the relationship between reductions of VitD levels, polymorphisms in the VDR gene, and altered cognitive function in this sample. However, the data indicate that BsmI polymorphism in the VDR gene is associated with the VitD levels in individuals with cognitive decline.

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Polymorphisms at the Ligand Binding Site of the Vitamin D Receptor Gene and Osteomalacia

Disease Markers ◽

10.1155/2005/645260 ◽

2005 ◽

Vol 21 (4) ◽

pp. 191-197 ◽

Cited By ~ 9

Author(s):

Duygu Gezen Ak ◽

Hakkí Kahraman ◽

Erdinç Dursun ◽

Belgin Süsleyici Duman ◽

Nevin Erensoy ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Mineral Density ◽

Vdr Gene ◽

Vdr Gene Polymorphisms ◽

Significant Difference ◽

Calcium Phosphorus

Vitamin D receptor (VDR) gene polymorphisms have been suggested as possible determinants of bone mineral density (BMD) and calcium metabolism. In this study, our aim was to determine whether there is an association between VDR gene polymorphism and osteomalacia or not. We determined ApaI and TaqI polymorphisms in the vitamin D receptor gene in 24 patients with osteomalacia and 25 age-matched healthy controls. Serum calcium, phosphorus, ALP, PTH, 25OHD levels were also examined. We used PCR and RFLP methods to test for an association between osteomalacia and polymorphisms within, intron 8 and exon 9 of the VDR gene. When the control and patients were compared for their ApaI and TaqI genotypes there was no relationship between VDR gene allelic polymorphisms and osteomalacia. Whereas a nearly significant difference for A allele was found in the allellic distribution of the patients (p= 0.08). Also no association between biochemical data and VDR gene polymorphisms was observed.

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Effects of Vitamin D Receptor, Metallothionein 1A, and 2A Gene Polymorphisms on Toxicity of the Peripheral Nervous System in Chronically Lead-Exposed Workers

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph17082909 ◽

2020 ◽

Vol 17 (8) ◽

pp. 2909

Author(s):

Hsin-Liang Liu ◽

Hung-Yi Chuang ◽

Chien-Ning Hsu ◽

Su-Shin Lee ◽

Chen-Cheng Yang ◽

...

Keyword(s):

Vitamin D ◽

Protective Effect ◽

Vitamin D Receptor ◽

Lead Exposure ◽

Gene Polymorphisms ◽

Lead Toxicity ◽

Regression Coefficients ◽

Vdr Gene ◽

Vdr Gene Polymorphisms ◽

Significant Difference

Chronic exposure to lead is neurotoxic to the human peripheral sensory system. Variant vitamin D receptor (VDR) genes and polymorphisms of metallothioneins (MTs) are associated with different outcomes following lead toxicity. However, no evidence of a relationship between lead neurotoxicity and polymorphisms has previously been presented. In this study, we investigated the relationship between the polymorphisms of VDR, MT1A, and MT2A genes and lead toxicity following chronic occupational lead exposure. We measured vibration perception thresholds (VPT) and current perception thresholds (CPT) in 181 workers annually for five years. The outcome variables were correlated to the subject’s index of long-term lead exposure. Polymorphisms of VDR, MT1A, and MT2A were defined. The potential confounders, including age, sex, height, smoking, alcohol consumption, and working life span, were also collected and analyzed using linear regression. The regression coefficients of some gene polymorphisms were at least 20 times larger than regression coefficients of time-weighted index of cumulative blood lead (TWICL) measures. All regression coefficients of TWICL increased slightly. MT1A rs11640851 (AA/CC) was associated with a statistically significant difference in all neurological outcomes except hand and foot VPT. MT1A rs8052394 was associated with statistically significant differences in hand and foot CPT 2000 Hz. In MT2A rs10636, those with the C allele showed a greater effect on hand CPT than those with the G allele. Among the VDR gene polymorphisms, the Apa rs7975232 (CC/AA) single nucleotide polymorphism was associated with the greatest difference in hand CPT. MT2A rs28366003 appeared to have a neural protective effect, whereas Apa (rs7975232) of VDR and MT2A rs10636 increased the neurotoxicity as measured by CPT in the hands. MT1A rs8052394 had a protective effect on large myelinated nerves. MT1A rs11640851 was associated with susceptibility to neurotoxicity.

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Association of Vitamin D Receptor Gene Polymorphisms with Serum Vitamin D Levels in a Greek Rural Population (Velestino Study)

Lifestyle Genomics ◽

10.1159/000514338 ◽

2021 ◽

pp. 1-10

Author(s):

Natalia Divanoglou ◽

Despina Komninou ◽

Eleni A. Stea ◽

Anagnostis Argiriou ◽

Grigorios Papatzikas ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Deficiency ◽

Vitamin D Receptor ◽

Rural Population ◽

Gene Polymorphisms ◽

Molecular Mechanisms ◽

Vdr Gene ◽

Increased Risk ◽

Vitamin D Levels ◽

Vdr Gene Polymorphisms

Background/Aim: An alarming increase in vitamin D deficiency even in sunny regions highlights the need for a better understanding of the genetic background of the vitamin D endocrine system and the molecular mechanisms of gene polymorphisms of the vitamin D receptor (VDR). In this study, the serum levels of 25(OH)D3 were correlated with common VDR polymorphisms (ApaI, BsmI, FokI, and TaqI) in 98 subjects of a Greek homogeneous rural population. Methods: 25(OH)D3 concentration was measured by ultra-HPLC, and the VDR gene polymorphisms were identified by quantitative real-time PCR followed by amplicon high-resolution melting analysis. Results: Subjects carrying either the B BsmI (OR: 0.52, 95% CI: 0.27–0.99) or t TaqI (OR: 2.06, 95%: 1.06–3.99) allele presented twice the risk for developing vitamin D deficiency compared to the reference allele. Moreover, subjects carrying 1, 2, or all 3 of these genotypes (BB/Bb, Tt/tt, and FF) demonstrated 2-fold (OR: 2.04, 95% CI: 0.42–9.92), 3.6-fold (OR: 3.62, 95% CI: 1.07–12.2), and 7-fold (OR: 6.92, 95% CI: 1.68–28.5) increased risk for low 25(OH)D3 levels, respectively. Conclusions: Our findings reveal a cumulative effect of specific VDR gene polymorphisms that may regulate vitamin D concentrations explaining, in part, the paradox of vitamin D deficiency in sunny regions, with important implications for precision medicine.

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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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Vitamin D receptor (VDR) gene polymorphisms and Graves’ disease: a meta-analysis

Clinical Endocrinology ◽

10.1111/j.1365-2265.2008.03413.x ◽

2009 ◽

Vol 70 (6) ◽

pp. 938-945 ◽

Cited By ~ 43

Author(s):

Haiyang Zhou ◽

Chenggang Xu ◽

Mingjun Gu

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Meta Analysis ◽

Graves Disease ◽

Vdr Gene ◽

Vdr Gene Polymorphisms

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Vitamin D receptor genetic polymorphisms were associated with oral lichen planus susceptibility in Chinese Han population

10.21203/rs.2.10415/v1 ◽

2019 ◽

Author(s):

Hong Shen ◽

Qinglan Liu ◽

Peng Huang ◽

Haozhi Fan ◽

Feng Zang ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Gene Polymorphisms ◽

Oral Lichen Planus ◽

Recessive Model ◽

Chinese Han ◽

Vdr Gene ◽

Han Population ◽

Vdr Gene Polymorphisms ◽

Oral Lichen

Abstract Vitamin D receptor (VDR) is involved in multiple immune-mediated disorders including Oral lichen planus (OLP). This study was aimed to investigate the association between VDR gene polymorphisms and the risk of OLP. 177 OLP patients and 207 healthy participants were recruited from Affiliated Hospital of Stomatology, Nanjing Medical University. Eight single nucleotide polymorphisms (SNPs: rs731236, rs739837, rs757343, rs2107301, rs2239185, rs7975232, rs11574129 and rs11568820) on the VDR gene were selected and genotyped. The results showed that the OLP risk was increased in subjects with the rs2239185 TT genotype (Recessive model: adjusted OR = 2.68, 95% CI = 1.28-5.62, P = 0.009) and rs7975232 CC genotype (Recessive model: adjusted OR = 2.25, 95% CI = 1.10-4.58, P = 0.026). And the significant cumulative effects on OLP risk were found in rs2239185 and rs7975232 (P < 0.01). The haplotype analysis showed that haplotype CC (rs2239185-rs7975232) was associated with increased OLP risk (OR =3.11, 95% CI = 1.42-6.83, P = 0.005), compared with haplotype AC. In conclusion, the variants of VDR rs2239185 and rs7975232 may influence the OLP susceptibility and VDR gene polymorphisms may be the candidate susceptibility region of OLP in Chinese Han population.

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