Vitamin D Receptor Rs2228570 Research Articles

Association between partial remission phase in type 1 diabetes and vitamin D receptor Fok1 rs2228570 polymorphism.

The aim of the current study was to assess the natural course of partial remission (PR) phase of type 1 diabetes (T1D) and to highlight the putative association between vitamin D receptor (VDR) (Fok1) gene polymorphism and PR phase. Ninety participants with newly diagnosed T1D were followed up for a total of 12months. The VDR (Fok1) rs2228570 gene polymorphism was genotyped using allelic discrimination (AD) assay. Fifty-four patients (60 %) reached PR with an average duration of 5.63±2.9months. Among remitters, the frequency of CC "FF" genotype and allelic frequency of C "F" were significantly higher (p<0.001). Furthermore, participants expressing "CC" genotype had earlier onset of PR and spent a significantly longer duration in remission (p<0.001). Younger age (p<0.001; OR 41.6; CI 12.12-142.99), absence of DKA (p<0.001; OR 16, CI 4.36-50.74), higher C-peptide levels (p<0.001; OR 19.55; CI 6.52-58.63), and presence of CC "FF" genotype of VDR (p<0.001; OR 6.74; CI 2.41-18.86) best predicted the overall occurrence of PR. Younger age, less extent of metabolic derangements, and expression of a CC "FF" genotype were found to influence the occurrence of PR. Data from the current study showed that the "C" allele could have a protective role on preserving residual β-cell mass and could predict both onset and duration of PR among newly diagnosed T1D. These findings support the growing concept of future tailored precision medicine.

Analysis of genetic association of vitamin D receptor (VDR) gene FokI polymorphism in Bangladeshi patients with type 2 diabetes mellitus

AimsType 2 diabetes mellitus (T2DM) is a complex and multifaceted disease that contributes significantly to Bangladesh’s disease burden. Both polygene abnormalities and environmental factors contribute to this genetic condition. Vitamin D receptor (VDR) has immunomodulatory functions that may contribute to the developmentof type 2 diabetes. This investigation examined the association between the vitamin D receptor gene (rs2228570) FokI polymorphism and genetic susceptibility to T2DM in the Bangladeshi population. MethodsA total of 203 subjects (108 clinically identified T2DM patients and 95 healthy controls) participated in this research study with the ethical committee’s approval. Genomic DNA was isolated from venous blood collected from the volunteers with prior consent. Extracted DNA was then genotyped for single nucleotide polymorphism (SNPs) for VDR (rs2228570) FokI gene by PCR-RFLP analysis, where the genotypes were assessed by agarose gel electrophoresis. ResultsGenotype distribution for VDR (rs2228570) FokI polymorphism exhibited a significant difference between T2DM patients and the control group, whereas allele frequencies for both genes did not differ evidently between the patient and control group. ConclusionsOur finding demonstrates a possible link between the risk of T2DM and the FokI polymorphism of the VDR (rs2228570) gene.

The Effects of MMP3 (rs679620) and VDR (rs731236) Gene Polymorphisms on Dental Caries: A Pilot Study.

Caries formation is a process affected by various factors. Studies have shown that genetic factors also play a role in caries formation. The aim of our study is to examine the effects of matrix metalloproteinase (MMP)3 (rs679620) and vitamin D receptor (VDR) (rs731236) gene polymorphisms on caries formation. Following routine oral examinations in individuals aged between 20 and 44 years, the diagnosis was made according to the decayed, missing, and filled teeth (DMFT) index, and experimental group was defined as "high caries risk" (DMFT ≥ 14, n = 28), and the control group as "no caries" (DMFT = 0, n = 28). Plaque index and bleeding on probing were measured from participants with a detailed anamnesis. Periodontally healthy individuals with less than 10% bleeding on probing were included in the study (n = 56). After DNA isolation from blood samples taken from the participants, the genotyping of MMP3 (rs679620) and VDR (rs731236) gene polymorphisms were determined using the real-time polymerase chain reaction technique. Data were analyzed with IBM SPSS V23.0. Data distribution was evaluated with Kolmogorov-Smirnov's test. Pearson's chi-square test was used to compare categorical data according to groups. The results were evaluated using a significance level of p < 0.05. Regarding MMP3 and VDR gene polymorphisms, there was a statistically significant difference between the groups in terms of MMP3 (rs679620) (p < 0.001). There was no statistically significant difference between the VDR (rs731236) genotype distributions of the groups (p = 0.659). Within the limits of this study, MMP3 rs679620 gene polymorphism may have an effect on caries formation.

Associations between the VDR Gene rs731236 (TaqI) Polymorphism and Bone Mineral Density in Postmenopausal Women from the RAC-OST-POL.

Postmenopausal osteoporosis is not only related to hormonal factors but is also associated with environmental and genetic factors. One of the latter is the polymorphism of vitamin D receptor (VDR). The aim of the reported study was to comprehensively analyze the VDR gene polymorphic variants rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI) in the Polish population of postmenopausal women. The study group consisted of 611 women after menopause (their median age was 65.82 ± 6.29 years). Each of them underwent bone densitometry (DXA) of the non-dominant femoral neck and total hip with a biochemical analysis of vitamin D3 serum concentration and genotyping of the above-mentioned single nucleotide polymorphisms (SNPs); the obtained results were analyzed in the aspect of waist circumference (WC), body mass index (BMI) and past medical history. The genotype prevalence rates of all SNPs were compatible with Hardy-Weinberg equilibrium (p > 0.050). Out of the studied polymorphisms, only rs731236 genotype variants affected DXA, with AG heterozygotes showing the worst bone parameters. Neither patient age nor vitamin D3 concentration, BMI, WC or comorbidities was associated with rs731236 genotype. Out of the polymorphisms studied, only rs731236 genotypes differed among the DXA results, while the AG heterozygotes were characterized by the lowest median bone mineral density.

Association between Vitamin D Receptor Polymorphism and Susceptibility to Oral Lichen Planus and Oral Squamous Cell Carcinoma.

Oral squamous cell carcinomas (OSCC) comprise 90-95% of oral cancers. Early diagnosis improved the survival rate of OSCC patients to 80-90%. Oral lichen planus (OLP) is a chorionic inflammatory disease with malignancy potential. The vitamin D receptor (VDR) plays a critical role in the pathogenesis of oral cancer. This study aimed to determine the association between VDR rs7975232 (Apa I) polymorphism and potential susceptibility to OLP and OSCC risks. In this prospective case-control study, a total of 120 blood samples were obtained from OSCC patients (n=29), OLP (n=50), and controls (n=40). VDR rs7975232 polymorphism was studied using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method. Statistical analysis was performed with SPSS Version 23 software. Data were expressed as means ± standard deviation (SD). Age, sex, allelic frequency, and genotyping were compared using the chi-square test. A p-value of less than 0.05 was regarded as statistically significant. The disease risk was estimated by Odds ratio (OR) with a 95% confidence interval. A significant age difference was observed between the controls and the OSCC group (p=0.001). A significant difference was observed in Aa and aa genotypes compared with AA between OSCCs and controls. Moreover, dominant (p<0.001), additive (p<0.001), and allelic (p=0.001) models were different between groups. There was a positive association between rs7975232 VDR polymorphism and susceptibility to OSCC. More experimental evidence must reveal the possible association between rs7975232 and the risk of OLP in a larger cohort.

Effects of VDR and CYP24A1 gene polymorphisms on the outcome of supraglottic larynx cancer.

Vitamin D has been demonstrated to play a protective role in carcinogenesis. Polymorphisms of the vitamin D receptor (VDR) genes and 24-α-hydroxylase (encoded by CYP24A1) may affect the outcome of some cancers. This study examines the effects of the VDR gene and CYP24A1 single nucleotide polymorphisms on the outcome of supraglottic larynx cancer. Patients diagnosed with supraglottic larynx cancer between 2017 and 2022 were enrolled. Single nucleotide polymorphisms of the VDR gene (rs2228570, rs731236, rs7975232, rs11574113, rs11168267 and rs11168266) and CYP24A1 gene (rs4809960, rs6022999, rs6068816, rs2259735 and rs2296241) were investigated. All patients were followed up for any evidence of local recurrence, regional recurrence, distant metastasis, and second primary tumor development. Cox regression analysis was performed to evaluate the prognostic value of single-nucleotide polymorphisms (SNPs). Kaplan-Meier method was used for survival analysis. 87 patients were included. The mean follow-up time was 45.02±24.47 months. Cox regression analysis for locoregional recurrence revealed that the hazard ratio of rs731236 GG was 2.098 (95% CI, range: 1.047-4.202, p=0.037). Locoregional recurrence for rs731236 AA, AG, and GG were 38.6%, 23.1%, and 53.3%, respectively. In the presence of rs731236 GG polymorphism, disease-specific survival was significantly shorter (47.63±7.48 months, p=0.015), and disease-free survival (45.71±6.3 months) was significantly shorter (p=0.040). Rates of metastases and second primary tumors were not significantly different between SNPs. This study has demonstrated the possible effects of VDR rs731236 SNP on the locoregional recurrence and prognosis of supraglottic larynx cancer.

Genetic variants and non-genetic factors associated with a high prevalence of vitamin D deficiency in full-term neonates in Malaysia

A high prevalence of vitamin D deficiency has been reported in Malaysian pregnant women, indicating that neonates at birth are at increased risk of vitamin D deficiency. Factors including low dietary vitamin D intake and single nucleotide polymorphisms in the vitamin D metabolism genes have been associated with this deficiency in the population. However, there was limited data available regarding the prevalence of neonatal vitamin D deficiency and the factors associated with it among neonates in Malaysia. Therefore, this study aimed to determine the prevalence of vitamin D deficiency and explore the associations between maternal and neonatal gene polymorphisms, as well as non-genetic factors and neonatal vitamin D deficiency. A total of 217 mother-neonate dyads were recruited for this study. Data on skin type, maternal sun exposure, dietary intake, as well as maternal and neonatal 25-hydroxyvitamin D (25OHD) concentrations were collected. Maternal and neonatal vitamin D Receptor (VDR) SNP (rs2228570) and Group-specific component (GC) SNPs (rs4588 and rs7041) genotypes were determined using high-resolution melting (HRM) and restriction fragment length polymorphism, respectively. The results showed that 60.4%, 71.4% and 95.4% of neonates had cord blood 25OHD levels below 25 nmol/L, 30 nmol/L and 50 nmol/L, respectively. After adjusting for the maternal vitamin D status, the maternal VDR rs2228570 GG genotype was significantly associated with neonatal vitamin D deficiency (25OHD<30 nmol/L) (aOR = 2.63, 95% CI: 1.18–5.87, p = 0.018). Maternal vitamin D supplement intake was found to be a protective factor. However, maternal and neonatal vitamin D binding protein (VDBP) SNPs were not associated with neonatal vitamin D deficiency. The high prevalence of neonatal vitamin D deficiency reported in this study indicates the urgent need for the development and implementation of strategies to improve neonatal vitamin D status. The findings suggest that maternal supplementation may be an effective approach to enhance the vitamin D status of neonates.

BMP6 and VDR gene polymorphisms are associated with osteonecrosis in a sickle cell anaemia cohort.

The occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles in cartilage and bone metabolism, making them potential contributors to orthopaedic outcomes in SCA. Here, we evaluated the association of polymorphisms in BMP6 (rs3812163, rs270393 and rs449853) and VDR (FokI rs2228570 and Cdx2 rs11568820) genes with osteonecrosis risk in a Brazilian SCA cohort. A total of 177 unrelated SCA patients were selected. The AA genotype of BMP6 rs3812163 was independently associated with a lower osteonecrosis risk (p = 0.015; odds ratio (OR): 0.38; 95% confidence interval (CI): 0.18-0.83) and with the long-term cumulative incidence of osteonecrosis (p = 0.029; hazard ratio: 0.56, 95% CI: 0.34-0.94). The VDR rs2228570 TT genotype was independently associated with a lower osteonecrosis risk (p = 0.039; OR: 0.14; 95% CI: 0.02-0.90). In summary, our results provide evidence that BMP6 rs3812163 and the VDR rs2228570 might be implicated in osteonecrosis pathophysiology in SCA and might help identify individuals at high risk.

Serum 25-Hydroxyvitamin D, Vitamin D Receptor, and Vitamin-D-Binding Protein Gene Polymorphisms and Risk of Dementia Among Older Adults With Prediabetes.

The association between vitamin D and dementia risk in those with prediabetes remains uncertain. We aimed to evaluate the association of serum 25-hydroxyvitamin D (25OHD) with incident dementia among older adults with prediabetes, and examine whether apolipoprotein E (APOE) genotypes, vitamin D receptor (VDR), and vitamin-D-binding protein (VDBP) gene polymorphisms may modify this association. A total of 34237 participants aged ≥60 with prediabetes (HbA1c <6.5% and ≥5.7%) and without dementia at baseline were included from the UK Biobank. Serum 25-hydroxyvitamin D (25OHD) was measured using chemiluminescent immunoassay method. The primary outcome was incident all-cause dementia. Secondary outcomes included incident Alzheimer's disease (AD) and vascular dementia, respectively. The VDR and VDBP gene polymorphisms included single nucleotide polymorphisms of rs7975232, rs1544410, rs2228570, rs731236, and rs7041, rs4588, respectively. During a median follow-up of 11.8 years, 941 (2.7%) participants developed incident all-cause dementia. Overall, serum 25OHD was inversely associated with all-cause dementia (per standard deviation increment, adjusted hazard ratio: 0.82; 95% confidence interval: 0.75, 0.89). Similar trends were found for incident AD and vascular dementia. Furthermore, there was a stronger inverse relationship between serum 25OHD and all-cause dementia among VDR rs7975232 C allele noncarriers (p-interaction < 0.05). However, APOE Ɛ4, other VDR, and VDBP gene polymorphisms did not significantly modify the relation of serum 25OHD with incident all-cause dementia (all p-interactions >.05). There was an inverse association between serum 25OHD and incident dementia among older adults with prediabetes, especially in VDR rs7975232 AA allele carriers.

Association of defects of enamel with polymorphisms in the vitamin D receptor and parathyroid hormone genes.

This cross-sectional study aimed to investigate the association between developmental defects of enamel (DDE) and single nucleotide polymorphisms (SNPs) in the genes encoding the vitamin D receptor (VDR) and parathyroid hormone (PTH). Orthodontic patients receiving treatment at a dental school were selected through convenience sampling. Intra-oral photographs were used to assess DDE, which were classified according to the criteria proposed by Ghanim et al. (2015) by a single calibrated examiner (Kappa>0.80). Enamel hypoplasia, molar-incisor hypomineralization (MIH), hypomimineralized second primary molar (HSPM), and non-MIH/HSPM demarcated opacities were considered for the analysis. Genomic DNA was extracted from buccal cells. The SNPs in VDR (rs7975232) and PHT (rs694, rs6256, and rs307247) were genotyped using real-time polymerase chain reactions (PCR). Statistical analyses were performed using the PLINK software (version 1.03, designed by Shaun Purcell, EUA). Chi-square or Fisher's exact tests were performed at a significance level of 5%. Ninety-one (n=91) patients (49 females and 42 males) (mean age of 14.1±5.8 years) were included. The frequency of DDE was 38.5% (35 patients). Genotype distributions were in Hardy-Weinberg equilibrium. No significant statistical association was found between DDE and the SNPs evaluated. A borderline association (p=0.09) was observed between DDE and the CC haplotype for SNP rs7975232 in VDR. In conclusion, the selected SNPs in VDR and PTH genes were not associated with DDE in the studied samples.

Vitamin D receptor rs3782905 and vitamin D binding protein rs7041 polymorphisms are associated with hepatocellular carcinoma susceptibility in cirrhotic HCV patients

BackgroundThe severity of chronic hepatitis C and susceptibility to hepatocellular carcinoma (HCC) are associated with genetic variations within vitamin D receptor (VDR) in several populations. This study aims to determine the significance of the VDRs (rs2228570, rs3782905, rs11568820) and DBP (rs7041) for the susceptibility to HCC in Egyptian patients with chronic HCV infection and their effect on the progression of liver cirrhosis to carcinogenesis.MethodsSingle nucleotide polymorphisms (SNPs) VDR (rs2228570, rs3782905), and DBP rs7041 were genotyped using restriction fragment length-PCR (RFLP-PCR) technique and VDR rs11568820 was genotyped using single strand polymorphism PCR (SSP PCR). These SNPs genotypes, haplotypes and linkage disequilibrium analyses were examined in 299 Egyptian individuals (100 HCV-cirrhotic patients, 99 HCC- HCV patients, and 100 healthy controls).ResultThe VDR rs2228570 CC genotype, VDR rs3782905 GC and CC genotypes, and DBP rs7041 GG genotype are significantly higher in HCC. It is noteworthy that, VDR rs3782905 CC and DBP rs7041 TG genotypes are higher in HCV induced liver cirrhosis than with HCC progression in HCV infected patients. Furthermore, among patients, the relationship between these SNPs and smoking status, gender, and HCC susceptibility was reported.ConclusionAmong the four investigated SNPs, there are associations between VDR rs3782905 and DBP rs7041 and the HCC progression in Egyptian patients chronically infected with HCV. These SNPs are considered as risk factors in HCV induced liver cirrhosis and HCC. The combinations of these SNPs with smoking status and gender are statistically linked to a high risk of HCC. Future research with a larger sample size of subjects with HCV infection is advised, because chronic liver disease induced by HCV infection is the primary cause of HCC in Egypt. We recommend screening of these SNPs for prediction of LC and HCC development in HCV infected patients, which may improve the used therapeutic protocol. These results suggest that VDR polymorphisms may be potential determinants for HCC susceptibility in Egyptian HCV patients.

Single Nucleotide Variants of the VDR Gene and Cardiometabolic Risk in Obesity

BackgroundVitamin D deficiency is associated with impaired glucose tolerance, insulin resistance, metabolic syndrome, and an increased risk of developing type 2 diabetes. Aim: to define the contribution of single nucleotide variants (SNV) of the vitamin D receptor (VDR) gene to the development of metabolically unhealthy obesity (MUO) in children. Materials and Methods200 obese children aged 6-18 years were examined. The main group (n=118) was represented by children with MUO. The control group (n=82) consolidated of children with metabolically healthy obesity (MHO). Whole genome sequencing (CeGat) was performed in 31 children of the main and 21 children of the control group. The level of serum 25-hydroxyvitamin D (Synevo) was measured in all children. Verification of results: calculation of Spearman's correlation coefficient (r) and p-value for each variable. ResultsFive SNVs of the VDR gene were identified: rs2228570 (1 DNA copy number variation (CNV): c.2T>C in 94.23%; rs731236 (2 CNVs: c.11056T>C, c.1206T>C in 65.38%); rs10783218 (2 CNV: c.296+8C>T, c.146+8C>T in 7.69%); rs2228572 (2 CNV: c.57C>T, c.207C>T in 1.92%); rs12721365 (2 CNV: c. 1059C>T, c.909C>T in 1.92% of patients). A correlation between SNV VDR and MUO was observed in the following genotypes: AA rs12721365 (r=0.21), AA rs2228572 (r=0.21) and GG rs2228570 (r= -0.31), p<0.05. A correlation between vitamin D deficiency and SNV VDR was noted for the following genotypes: AA genotype rs12721365 (r= 0.41), AA genotype rs2228572 (r= 0.38) and GG rs 2228570 (r= -0.27), p<0.05. ConclusionsThe development of cardiometabolic risk and vitamin D deficiency in obese children is associated with the presence of AA/AG genotypes SNV VDR rs2228570, rs12721365, rs2228572.

Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.

The proactive role of vitamin D has been well determined in different cancers. The protein that encodes the components of the vitamin D metabolism could appear to play a pivotal role in vitamin D stability and its maintenance. A polymorphism in vitamin-D-receptor (VDR), carrier globulin/binding protein (GC) and cytochrome P-450 family 2, subfamily R, polypeptide 1 (CYP2R1) genes has been predicted to be associated with the development of cancer. This study was designed to detect the association of VDR, GC Globulin and CYP2R1 gene polymorphism with the risk of esophageal cancer in the North-east Indian population. To carry out the study, a total of 100 patients diagnosed with esophageal cancer and 101 healthy controls were enrolled. In a case-control manner, all samples were subjected to do genotype testing for known SNPs on the VDR (rs1544410), GC (rs4588), and CYP2R1 (rs10741657) genes using Restriction-fragment length polymorphism (RFLP) followed by Sanger sequencing. The collected demographic and clinical data were analysed using the statistical software package SPSS v22.0. The VDR haplotype heterozygous TC was found strongly associated with the carcinoma group (OR:1.09, 95%CI:0.67-1.75). The risk factors analysis using the GC globulin rs4588 phenotype, found a positive correlation in terms of mutant AA's harmful influence on the cancer cohort (OR = 1.125, OR=1.125, 95% CI, 0.573-2.206). The influence of the CYP2R1 rs10741657 polymorphism on the malignant cohort revealed that the GG mutant had a significant negative influence on the carcinoma, has an influential role in disease severity ( OR:1.736, at 95% CI; 0.368-8.180). In conclusion, this study revealed the potential association of VDR gene polymorphism in the progression and development of esophageal cancer in north east Indian population cohort.

Vitamin D receptor and binding protein genes variants in patients with migraine.

Several studies have shown a relationship between vitamin D and migraine, including the association between decreased serum 25-hydroxyvitamin D in patients with migraine and the positive effects of vitamin D supplementations in the therapy of this disease. Two single-nucleotide variants (SNVs) vitamin D receptor (VDR) gene, VDR rs2228570, and VDR rs731236 have shown an association with migraine risk in a previous case-control association study, while an exome sequencing study identified a rare variant in GC vitamin D binding protein gene. This study aims to look for the association between several common variants in these two genes and the risk for migraine. We genotyped 290 patients diagnosed with migraine and 300 age-matched controls using specific TaqMan assays for VDR rs2228570, VDR rs731236, VDR rs7975232, VDR rs739837, VDR rs78783628, GC rs7041, and GC rs4588 SNVs. We did not find an association between these SNVs and the risk for migraine. None of these SNVs were related to the positivity of a family history of migraine or with the presence of aura. The VDR rs731236A allele showed a significant association with the triggering of migraine attacks by ethanol (Pc = 0.007). In summary, the results of the current study suggest a lack of association between common SNVs in the VDR and GC gene and the risk of developing migraine. The possible relationship between VDR rs731236 and the triggering of migraine episodes with ethanol deserves future studies.

Association of vitamin D levels and VDR variant (rs2228570) with allergic rhinitis: A meta-analysis and trial sequential analysis

BackgroundAllergic rhinitis (AR) is a most common allergic condition characterised by cough, sneezing and flu-like symptoms. The aetiology of AR is not known. A deficiency of vitamin D has been associated with various allergic diseases. The role of vitamin D in allergic rhinitis has been explored in different populations, but the results remained inconsistent. Furthermore, vitamin D exerts its effect through the vitamin D receptor (VDR), and genetic variations in the VDR gene significantly alter vitamin D. We performed a meta-analysis to investigate the role of vitamin D levels and VDR polymorphisms with a predisposition to the development of AR. Materials and methodsAll published articles were searched using databases such as PubMed, Google Scholar, and Science Direct. Based on rigorous inclusion and exclusion, appropriate studies were identified. Vitamin D levels, VDR genotype and allele frequencies were extracted from the eligible reports. The meta-analysis was performed by comprehensive meta-analysis software v3.3. ResultsThe present meta-analysis comprised 14 reports with 1504 AR patients and 1435 healthy controls. Compared to healthy controls, AR had significantly lower levels of vitamin D (P = 0.000, standard difference of means = −1.287, 95% CI = −1.921 to −0.652). The meta-analysis of two separate investigations, which included 917 cases and 847 controls, showed no predisposition to allergic rhinitis. The trial sequential analysis also demonstrated the need for future case-control studies of VDR polymorphism to examine their involvement in AR. ConclusionsLower vitamin D levels are associated with allergic rhinitis, and vitamin D supplementation might be advantageous in addition to standard treatment. The connection of VDR polymorphism (rs2228570) remained equivocal, and additional research is needed. SummaryVitamin D exerct its beneficial effect through the vitamin D receptor (VDR) and role of vitamin D and VDR variant in the allergic rhinitis has been contradictories. We performed a meta-analysis to draw a definitive conclusion of importance of vitamin D and VDR polymorphisms in predisposition to development of allergic rhinitis. The observations of the meta-analysis revealed a significant association of lower vitamin D with allergic rhinitis. In addition the VDR rs2228570 variant predisposed subject to develop rhinitis. Collectively, the results of the present investigation redirect requirement of individualized vitamin D supplementation in the management of allergic rhinitis.

Vitamin D receptor gene polymorphism and polycystic ovary syndrome susceptibility

BackgroundPolycystic ovary syndrome (PCOS) is the most common endocrinopathy in women. This study was designed to investigate the associations of vitamin D receptor (VDR) gene variants with PCOS risk and the severity of the disease phenotype among Egyptian women.MethodsIn this study, 185 women with PCOS and 207 fertile women as controls were recruited. Cases were divided into phenotype groups based on their clinical and paraclinical features. Clinical and laboratory data were measured in the patient and control groups. All individuals were genotyped for nine single-nucleotide polymorphisms (SNPs) located across the VDR gene using TaqMan allelic discrimination real-time polymerase chain reaction.ResultsWomen with PCOS were significantly (P ≤ 0.001) higher body mass index (BMI) (22.77 ± 2.5) than controls (21.68 ± 1.85 kg/m2). Women with PCOS had significantly higher anti-Mullerian hormone, prolactin, luteinizing hormone (LH), LH/follicle-stimulating hormone (FSH), free testosterone, total testosterone, and dehydroepiandrosterone sulfate levels than the control group (P ≤ 0.001). The level of FSH was significantly lower in women with PCOS than in the control group (P ≤ 0.001). Analysis of the VDR rs4516035, rs2107301, rs1544410 (BsmI), and rs731236 (TaqI) SNPs showed a significant association with PCOS phenotype A. Furthermore, rs2228570 (FokI), rs3782905, rs7975232 (ApaI), and rs739837 SNPs showed a significant association with PCOS phenotype C. Furthermore, rs11568820 SNP showed a significant association with PCOS phenotype D (P < 0.05).ConclusionsThe findings of this study indicate that variations in the VDR gene were associated with an increased risk of PCOS in Egyptian women.

Single Nucleotide Polymorphisms in IL-1A RS1800587, IL-1B RS1143634 and Vitamin D Receptor Rs731236 in Stage III Grade B/C Periodontitis.

The purpose of the study is to determine the prevalence of interleukin (IL)-1A (rs1800587), IL-1B (rs1143634) and vitamin D receptor (VDR) (TaqI, rs731236) gene polymorphisms in the Turkish population and their association with Stage III Grade B/C periodontitis. Systemically and periodontally healthy individuals (N = 100) and Stage III Grade B/C periodontitis patients (N=100) based on clinical and radiographic examination were included in this research. Clinical attachment level, probing depth, bleeding on probing, plaque and gingival indices of the subjects were measured. Genotyping of IL-1A (rs1800587), IL-1B (rs1143634) and VDR (rs731236) polymorphisms was conducted by Real Time PCR. Allelic and genotypic distributions of IL-1A (rs1800587) gene polymorphism were not associated with periodontitis (p>0.05). In IL-1B (rs1143634) gene polymorphism, the C allele was detected more frequently in healthy individuals compared with the periodontitis patients (p=0.045). CC genotype and C allele in VDR (rs731236) gene polymorphism was higher in periodontitis patients (p=0.031, p=0.034, respectively). In comparison with Grade B periodontitis patients and healthy subjects, CC genotype and C allele were observed more frequently in the Grade B periodontitis in terms of alleles (C/T) and genotypes for VDR (rs731236) polymorphism (p=0.024, p=0.008, respectively). This study presents that the VDR (rs731236) polymorphism are associated with enhanced susceptibility to Stage III periodontitis in the Turkish population. Furthermore, VDR (rs731236) polymorphism may be used as an identification criteria to discriminate Grade B and Grade C in Stage III periodontitis.

The frequency of allelic variants of the VDR gene and the level vitamin D in children under one year old in the Kazakh population

&lt;b&gt;Introduction:&lt;/b&gt; The study of the genetic aspects of bone metabolism disorders in children is a theoretical and practical interest for pediatrics, especially according to the age and ethnic positions. There is a number of gene polymorphisms&amp;nbsp;(primarily the vitamin D receptor (VDR) gene) that determine the norm and pathology of bone tissue formation. Calcium absorption worsens when there is no functional VDR and active forms of vitamin D. As a result the level of bone mineralization decreases. In children such disorders lead to the development of osteopenia.&lt;br /&gt; &lt;b&gt;Objective:&lt;/b&gt; To determine the frequency of allelic variants of the VDR gene (rs1544410, rs2228570) and to evaluate its relationship with the level of vitamin D in children under one year old in the Kazakh population.&lt;br /&gt; &lt;b&gt;Material and methods&lt;/b&gt;: 197 children under one year of age were examined for vitamin D by electrochemiluminescent immunoassay and genotyping of the VDR polymorphism (rs1544410, rs2228570) by PCR.&lt;br /&gt; &lt;b&gt;Results:&lt;/b&gt; It was found out that children with the C allele of the VDR rs2228570 gene have a reduced level of vitamin D by 1.84 times (95% CI 1.10 - 3.07) and CC - by 2.3 times compared with children with normal vitamin D levels.&lt;br /&gt; Statistical analysis by the Kruskal-Wallis method showed that the serum level of vitamin D in AA carriers for the VDR rs1544410 was significantly reduced comparing to the level in GG and GA carriers (p=0.03).&lt;br /&gt; &lt;b&gt;Conclusion:&lt;/b&gt; The study confirms the need for further in-depth study of the genetic aspects of bone metabolism disorders in children for the development of personalized medicine.

Evaluation of the Association of VDR rs2228570 Polymorphism with Elite Track and Field Athletes' Competitive Performance.

The present study aimed to examine the vitamin D receptor (VDR), rs2228570 polymorphism, and its effect on elite athletes' performance. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/ physically inactive, aged 18-35, voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the athletes' personal best (PB). Whole exome sequencing (WES) was performed by the genomic DNA isolated from the peripheral blood of the participants. Sports type, sex, and competitive performance were chosen as the parameters to compare within and between the groups by linear regression models. The results showed no statistically significant difference between the CC, TC, and TT genotypes within and between the groups (p > 0.05). Additionally, our results underlined that there were no statistically significant differences for the association of rs2228570 polymorphism with PBs within the groups of the (p > 0.05) athletes. The genetic profile in the selected gene was similar in elite endurance, sprint athletes, and in controls, suggesting that rs2228570 polymorphism does not determine competitive performance in the analyzed athlete cohort.

Allelic Discrimination of Vitamin D Receptor Polymorphisms and Risk of Type 2 Diabetes Mellitus: A Case-Controlled Study.

(1) Background: Type 2 diabetes mellitus (T2DM) is one of the rapidly growing healthcare problems, and several vitamin D receptor (VDR) polymorphisms seem to modulate the risk of T2DM. Our research was designed to investigate the allelic discrimination of VDR polymorphisms and T2DM occurrence risk. (2) Methods: This case-control research included 156 patients with T2DM and 145 healthy control subjects. Most of the study population were males 56.6% vs. 62.8% in the case and control groups, respectively. Genotyping for VDR single nucleotide polymorphisms (SNPs), rs228570 (Fok1), rs7975232 (Apa1), and rs1544410 (Bsm1) was compared between both groups. (3) Results: There was a negative link between vitamin D levels and insulin sensitivity. A significant difference was noted in the allelic discrimination of VDR polymorphism rs228570 and rs1544410 between the study groups (p < 0.001). No difference was observed in the allelic discrimination of VDR polymorphism rs7975232 between the groups (p = 0.063). Moreover, T2DM patients had significantly higher levels of fasting blood sugar (FBS), glycated hemoglobin HbA1c, 2-h post-prandial blood sugar (PP), serum glutamic oxaloacetic transaminase (SGOT), serum glutamic-pyruvic transaminase (SGPT), total cholesterol, and triglycerides (p < 0.001), while High-Density Lipoprotein (HDL) Cholesterol (HDL-C) was significantly decreased (p = 0.006). (4) Conclusions: VDR polymorphisms had a positive association with T2DM risk among the Egyptian population. Further large-scale research using deep sequencing of samples is strongly urged to investigate different vitamin D gene variants and interactions, as well as the influence of vitamin D on T2DM.