Vitamin D Receptor TaqI Gene Polymorphism Research Articles

Relationship Between Vitamin D Receptor TaqI Polymorphism and the Clinicopathological Features of Breast Cancer Patients at Sanglah Hospital, Denpasar, Bali

Introduction: Breast cancer is a malignant tumor of the mammary gland. Breast cancer is associated with vitamin D receptor (VDR) TaqI polymorphism. This study aims to prove the relationship between TaqI polymorphism and the clinicopathology of breast cancer in Bali. Methods: This study is an observational analytic study with a cross-sectional design conducted from February to August 2021. A total of 39 sample DNA isolates from breast cancer patients at Sanglah Hospital were enrolled in the study. The independent variable was the VDR TaqI gene polymorphism, while the dependent variable was the clinicopathological breast cancer (clinical stage and histological grading). The examination was carried out by PCR and sequencing. Clinical staging and histological grading of breast cancer were taken from the patient's medical record. The results were analyzed using descriptive and bivariate analysis. Results: TaqI polymorphism of breast cancer at Sanglah Hospital Denpasar was dominated by the wild type TT genotype as much as 59%. This study did not find the CC genotype. The results of the statistical analysis did not find a significant relationship (p>0.05) between TaqI polymorphisms with TT and TC genotypes and clinicopathology of breast cancer but found a significant relationship (p=0.047) with histological grading. The TT and TC genotypes were found to increase the risk of breast cancer severity by 3,810 compared to individuals without the TT and TC genotypes. Analysis of confounding variables with clinicopathological breast cancer found no significant relationship (p>0.05) between the age of diagnosis, menstrual status, and hormonal contraceptive use with the characteristics of the sample. Conclusion: It was concluded that breast cancer patients at Sanglah Hospital Bali had TaqI polymorphisms with TT and TC genotypes. TT and TC genotypes are associated with histological grading and can increase the severity of histological grading in breast cancer patients at Sanglah Hospital Denpasar Bali.

Association of Vitamin D Receptor Gene Polymorphism With the Risk of Nephrolithiasis.

This study aimed to explore the relationship between vitamin D receptor (VDR) gene polymorphisms and the risk of nephrolithiasis. All relevant trials were searched from multiple databases according to predefined criteria, the pooled OR and corresponding 95% CI were analyzed using Stata software. Seventeen studies involving 2441 cases and 2296 controls were included. The pooled analysis showed that VDR BsmI, FokI, and ApaI gene polymorphisms were not associated with nephrolithiasis susceptibility either in Asian and in Caucasians populations. VDR TaqI gene polymorphism was associated with nephrolithiasis in the overall populations (T vs. t: OR = 0.84, 95% CI: 0.73-0.95, P = 0.006; TT vs. Tt + tt: OR = 0.79, 95% CI: 0.66-0.95, P = 0.010). In Asian population, VDR TaqI gene polymorphism also was associated with nephrolithiasis susceptibility (TT vs. Tt + tt: OR = 0.72, 95% CI: 0.55-0.93, P = 0.012; Tt vs. TT + tt: OR = 1.43, 95% CI: 1.00-2.05, P = 0.048). But TaqI gene polymorphism was not associated with nephrolithiasis risk in Caucasian populations (T vs. t: OR = 0.85, 95% CI: 0.72-1.00, P = 0.051; TT vs. Tt + tt: OR = 0.87, 95% CI: 0.68-1.10, P = 0.245; tt vs. Tt + TT: OR = 1.32, 95% CI: 0.86-2.01, P = 0.206; Tt vs. TT+ tt: OR = 0.98, 95% CI: 0.70-1.38, P = 0.931). VDR BsmI, FokI, and ApaI gene polymorphisms were not associated with the risk of nephrolithiasis either in Asian and Caucasians populations, but VDR TaqI gene polymorphism was associated with nephrolithiasis in the Asian subjects.

Evaluation of Association of Vitamin D Receptor Genetic Polymorphism with Severe Chronic Periodontitis in an Ethnic Tamilian Population.

Periodontitis is a multifactorial disease characterized by inflammatory responses to increased levels of subgingival pathogens, resulting in connective tissue destruction and alveolar bone loss. The susceptibility of an individual is determined by the complex interplay of the host, genetic, and environmental factors. Vitamin D, a secosteroid hormone, interacts with its nuclear receptor vitamin D receptor (VDR) to regulate crucial biological processes, such as bone metabolism and immune function modulation. Various studies have been conducted in different populations to analyze the association of VDR gene polymorphisms with chronic periodontitis, as these polymorphisms have been demonstrated to play vital roles in the pathogenesis of other diseases. The aim of the present study was to determine the prevalence and association of the VDR TaqI gene polymorphism with severe chronic periodontitis in an Ethnic Tamilian population. A total of 140 subjects were recruited for the study, of which 70 were diagnosed with severe chronic periodontitis and 70 had healthy gums. Each subject's medical and dental histories were taken, and periodontal examinations were performed. Genomic DNA was extracted and genotyping of the VDR gene at the TaqI site was carried out using polymerase chain reaction/restriction fragment length polymorphism. The frequencies of genotypes and alleles were analyzed between the study groups. The frequency of homozygous TT genotype was 40%, for both the severe chronic periodontitis and the healthy control groups. The distribution of heterozygous Tt genotype was 42.9% in the severe chronic periodontitis group and 47.1% in the healthy control group. The frequency of homozygous tt genotype was 17.1% in the severe chronic periodontitis group and 12.7% in the healthy control group. Although the prevalence of genotype tt and t allele was slightly increased in severe chronic periodontitis patients compared with healthy controls, the frequency of VDR genotype between the study groups was not statistically significant (p-value = 0.751). This present study performed in an Ethnic Tamilian population does not support an association between either of the TaqI alleles within the VDR gene and Severe Chronic Periodontitis.

Vitamin-D Receptor (VDR) Gene Polymorphisms (TaqI, FokI) in Turkish Patients with Hashimoto's Thyroiditis: Relationship to the Levels of Vit-D and Cytokines.

Hashimoto's thyroiditis (HT) is a common autoimmune disease. Vitamin D is an important regulator of immune system. It has been shown in several studies that vitamin D prevents the development of lots of autoimmune diseases. There are some studies that prove vitamin D receptor (VDR) gene polymorphism increases the risk of Hashimoto's thyroiditis. In this study, we aimed to investigate the association between HT and level of 25(OH)D3, IL-2, IL-4, IL-5, TNF-α and IFN-γ and VDR FokI and TaqI gene polymorphism. Moreover, to find out whether low levels of vitamin D affect HT pathogenesis over inflammatory parameters. We performed a case-control study that included 136 cases with HT (49 euthyroid, 49 subclinical hypothyroid, 38 hypothyroid patients) and 50 healthy control. Serum levels of 25(OH)D3, glucose, insulin, parathyroid hormone, calcium, phosphorus, alkaline phosphatase were measured and IL-4, IL-5, TNF-α, IFN-γ analysis were performed with ELISA kits in all 186 subjects. Genetic analysis for VDR FokI and TaqI gene polymorphisms were done by RFLP in all subjects. Mean serum 25(OH)D levels were 14.88±8.23 ng/ml in patient with HT and 15.52±1.34 ng/ml in healthy controls. There were no statically significant differences between the groups in terms of vitamin D levels (P=0.977). Prevalence of vitamin D insufficiency in HT cases was significantly higher than controls (p=0.02). Although serum IL-2, IL-4, TNF-α and IFN-γ were significantly higher in HT patients, there were no significant differences regarding IL-5 levels. Significant differences were observed between the groups regarding the genotype of TaqI but no differences regarding FokI genotype. Vitamin D insufficiency is associated with HT. There is a relationship between VDR TaqI gene polymorphism and HT. Although vitamin D levels are low in both patient and control group, detection of high level of inflammatory parameters in HT group makes us think that low level of vitamin D does not affect HT pathogenesis over these parameters.

Analysis of Vitamin D Receptor Gene Polymorphisms in Vitiligo

Background: Vitiligo is a progressive depigmenting disorder characterized by the loss of functional melanocytes from the epidermis. The etiopathogenesis of vitiligo is still unclear. Vitamin D has both stimulatory and protective effects on melanocytes and acts through its nuclear vitamin D receptor (VDR) on target cells. Aim: The aim of this study was to investigate the association between VDR gene polymorphisms and susceptibility to vitiligo. Methods: 98 patients with vitiligo and 216 age- and sex-matched controls recruited from dermatology outpatients attending the same department were included in the study. Genomic DNA was extracted from peripheral blood leukocytes using a DNA isolation kit. The VDR polymorphisms of BsmI, ApaI, TaqI, FokI and Cdx2 were investigated by rapid capillary PCR with melting curve analysis. Differences in genotype distributions and allele frequencies in vitiligo cases versus controls were compared for statistical significance using χ² test. Results: Subjects with TaqI polymorphism had a 2.23-fold increased risk of developing vitiligo. Furthermore, a haplotype analysis showed that BsmI/ApaI/TaqI/FokI/Cdx2 GCCCG was significantly overrepresented in the vitiligo patients in comparison with controls (p = 0.031). Conclusion: This study showed that VDR TaqI gene polymorphism and the haplotype BsmI/ApaI/ TaqI/FokI/Cdx2 GCCCG may be considered as novel risk factors in vitiligo.