VDR gene single nucleotide polymorphisms and their association with risk of oral cavity carcinoma.

Małodobra-Mazur, Małgorzata; Paduch, Agnieszka; Lebioda, Arleta; Konopacka, Maria; Rogoliński, Jacek; Szymczyk, Cezary; Wierzgoń, Janusz; Maciejewski, Adam; Chmielik, Ewa; Jonkisz, Anna; Półtorak, Stanisław; Dobosz, Tadeusz

doi:10.18388/abp.2012_2102

Cited by 13 publications

(16 citation statements)

References 17 publications

(34 reference statements)

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“…3 -A, B), respectively. Similar results were observed by the other research teams [ [30] , [31] , [32] ]. Patients with the GG genotype and patients with heterozygous AG mutation (AG mutation leads to an increased risk of MM) occurred in all analysed groups.…”

Section: Discussionsupporting

confidence: 92%

Development of novel parameter for monitoring of malignant melanoma progression

Špaková

Rabajdová

Dubayová

et al. 2020

Practical Laboratory Medicine

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Objective Increasing HIFs in malignant melanoma, the highly aggressive skin tumour, results in the stimulation of invasiveness. Increased HIF-1α fallouts in inhibition of the activity of some mitochondrial enzymes and leads to preference of cytosol energetic metabolism. Increase of aerobic glycolysis is reflected in an increase of free NADH (Warburg effect) and develops the malignant melanoma. Our goal was to find a link between hypoxia, or hypoxia mimicking factors and the stage of malignant melanoma. Furthermore, we focused on the finding of the experimental parameter which could monitor melanoma patients. Patients and methods We targeted HIF-1α gene expression and VDR rs2107301 gene polymorphism by PCR analysis. We detected the level of NADH in blood plasma by fluorescence spectroscopy (excitation and emission spectra). Results Analysis of the obtained data from patient samples has shown an increase in HIF-1α which correlates with the disease stage. Investigation VDR rs2107301 polymorphism of patient samples does not show any significant changes in single nucleotide polymorphism, and the low vitamin D level in blood is not a result of VDR mutation in mitochondria. NADH levels vary under hypoxic and pseudohypoxic conditions and refer to the cancer stage. Conclusions The apparent mismatch between HIF-1α expression and NADH fluorescence has become the basis for the design of an algorithm for monitoring malignant melanoma based on the sensing of NADH fluorescence and the determination of HIF-1α.

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Section: Discussionsupporting

confidence: 92%

Development of novel parameter for monitoring of malignant melanoma progression

Špaková

Rabajdová

Dubayová

et al. 2020

Practical Laboratory Medicine

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“…From our results, we don´t know whether increased VDR expression in oral pre cancerous or OSCCs exhibits a functionally inactivating mutation and this may be due to a feedback loop coupled with an expression by the tumour cells of a defective VDR ( 46 ). In different cell types, Calcitiol has been shown to enhance VDR expression on gene and protein level in vitro ( 47 , 48 ).…”

Section: Discussionmentioning

confidence: 97%

Serum vitamin D levels of patients with oral squamous cell carcinoma (OSCC) and expression of vitamin D receptor in oral precancerous lesions and OSCC

Grimm¹,

Cetindis²,

Biegner³

et al. 2015

Med Oral

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Background: Resistance to programmed cell death (apoptosis) is a crucial factor for the carcinogenesis of oral squamous cell carcinoma (OSCC). Vitamin D (calcitriol) may overcome apoptosis resistance in tumor cells of OSCC. Vitamin D receptor (VDR) expression in oral precancerous lesions of OSCC has not been analyzed and serum vitamin D level seems to be a predictor of cancer development. Material and Methods: Expression of VDR was analyzed in normal oral mucosa (n=5), oral precursor lesions (simple hyperplasia, n=11; squamous intraepithelial neoplasia, SIN I-III, n=35), and OSCC specimen (n=42) by immunohistochemistry (IHC). Moreover, serum vitamin D levels were measured by 25(OH)D3 (calcidiol) in patients with OSCC (n=42) and correlated with IHC results. Results: Expression of VDR was significantly increased in precancerous and OSCC compared with normal tissue. Compared with SIN I-III lesions VDR expression significantly decreased in OSCC. Severe vitamin D deficiency was detected in our OSCC patient cohort but there was no significant correlation analyzed between serum vitamin D levels and corresponding immunohistochemically detected VDR expression in OSCC. Conclusions: Our survey provides the first evidence of VDR expression in precancerous lesions of OSCC. Apoptosis induction of VDR+ cells in oral precancerous lesions and OSCC by natural vitamin D or synthetic vitamin D compounds could be useful for chemoprevention. Moreover, systemically and/or locally applied, these compounds may act as sensitizers for apoptosis mediated by radio-, and chemotherapy treatment in OSCC. Key words:Oral cancer, oral precancer, lichen planus, leukoplakia, apoptosis, serum 25(OH)D3, vitamin D receptor, chemoprevention, multistep carcinogenesis.

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“…The VDR SNP with the lowest p-value for the breast cancer risk analysis, rs2238135, has not been previously reported to be associated with breast cancer risk, but has been linked to esophageal (63), oral cavity (64), and prostate cancer (65). The second lowest p-value was seen for rs11168287, which also showed evidence of modifying the 25(OH)D-breast cancer association and is discussed above.…”

Section: Discussionmentioning

confidence: 99%

Single-Nucleotide Polymorphisms in Vitamin D–Related Genes May Modify Vitamin D–Breast Cancer Associations

O’Brien

Sandler

Kinyamu

et al. 2017

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background We previously observed that high serum 25-hydroxyvitamin D [25(OH)D] (>38.0 ng/mL) was inversely associated with breast cancer. Here, we examined effect modification by single nucleotide polymorphisms (SNPs) in vitamin D-related genes. Methods The Sister Study enrolled 50,884 US women who had a sister with breast cancer, but who had never had breast cancer themselves. Using a case-cohort design, we compared 1,524 women who developed breast cancer within 5 years to 1,810 randomly selected participants. We estimated ratios of hazards ratios (RHRs) for the 25(OH)D-breast cancer association per copy of the minor allele using Cox proportional hazards models. We considered 82 SNPs in 7 vitamin D-related genes (CYP24A1, CYP27B1, CYP2R1, GC, DHCR7/NADSYN1, RXRA, and VDR). We also tested gene-based interactions with 25(OH)D. Results The SNP with the smallest interaction p-value was rs4328262 in VDR (p=0.0008); the 25(OH)D hazard ratio (HR) was 0.92 (95% confidence interval [CI]: 0.68–1.24) among those homozygous for the common allele, and the minor allele was estimated to decrease the HR by 33% per copy (RHR=0.67, 95% confidence interval [CI]=0.53–0.85). Five other VDR SNPs showed evidence of interaction at p<0.05, as did one SNP in CYP2R1 and one in RXRA. As a group, the 82 SNPs showed evidence of multiplicative interaction with 25(OH)D (p=0.04). In gene-based tests, only VDR showed strong evidence of interaction (p=0.04). Conclusions SNPs in vitamin D-related genes may modify the association between serum 25(OH)D and breast cancer. Impact This work strengthens the evidence for protective effects of vitamin D.

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VDR gene single nucleotide polymorphisms and their association with risk of oral cavity carcinoma.

Cited by 13 publications

References 17 publications

Development of novel parameter for monitoring of malignant melanoma progression

Development of novel parameter for monitoring of malignant melanoma progression

Serum vitamin D levels of patients with oral squamous cell carcinoma (OSCC) and expression of vitamin D receptor in oral precancerous lesions and OSCC

Single-Nucleotide Polymorphisms in Vitamin D–Related Genes May Modify Vitamin D–Breast Cancer Associations

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