BsmI Rs1544410 Research Articles

Association between Vitamin D Receptor Gene Polymorphisms and Periodontal Bacteria: A Clinical Pilot Study.

Background: Periodontitis is an inflammatory disease caused by microorganisms involving the supporting tissues of the teeth. Gene variants may influence both the composition of the biofilm in the oral cavity and the host response. The objective of the study was to investigate the potential correlations between the disease susceptibility, the presence and the quantity of periodontopathogenic oral bacterial composition and the VDR gene polymorphisms. Methods: Fifty (50) unrelated periodontal patients and forty-one (41) healthy controls were selected for genomic DNA extraction. DNA concentration was measured and analyzed. The periodontopathogenic bacterial species were identified and quantified using a Real Time PCR performed with species-specific primers and probes. Results: Genotype distribution showed a different distribution between the groups for BsmI rs1544410 genotypes (p = 0.0001) with a prevalence of the G(b) allele in periodontal patients (p = 0.0003). Statistical significance was also found for VDR TaqI rs731236 (p ≤ 0.00001) with a prevalence of the T(T) allele in periodontal patients (p ≤ 0.00001). The average bacterial copy count for the periodontitis group was significantly higher than that of control group. Dividing patients into two groups based on high or low bacterial load, FokI rs2228570 T allele (f) was statistically more represented in patients with high bacterial load. Conclusions: The findings of the study suggest the involvement of the VDR gene BsmI and TaqI polymorphisms in periodontal disease, while FokI and BsmI may be involved in determining an increased presence of periodontopathogens.

Vitamin D Receptor Gene Polymorphisms, β-cell Function, and Vitamin D Status in Non-obese Mexican Adults

FokI (rs2228570 T>C) and BsmI (rs1544410 A>G) polymorphisms of the vitamin D receptor (VDR) have been associated to abnormal glucose metabolism and could be inversely associated with β-cell function (BCF) and vitamin D status. There is a lack of information about this topic in the Mexican population. To evaluate the relationship between VDR gene polymorphisms FokI and BsmI with BCF and vitamin D status in a population of non-obese Mexican adults. A sample of 192 participants were enrolled during 2016-2018. Blood samples were collected to determine fasting concentrations of glucose, insulin, and vitamin D. Genomic DNA was isolated from leucocytes and the polymorphic variants of FokI and BsmI were analyzed. The Homeostasis Model Assessment Calculator was used to estimate the BCF (HOMA2-B). FokI polymorphism showed a frequency of 20.1% for homozygous TT carriers and 7.8% for the BsmI GG. The recessive model of FokI (TT genotype) showed a lower mean value of BCF compared to the combination of CC+CT (99.2 vs. 109.6%, p=0.045). Likewise, significantly lower mean values of HOMA2-B and insulin were observed for BsmI (GG genotype, p=0.016 and p=0.039, respectively). After covariates adjustment, only FokI polymorphism remained as an independent predictor of BCF. the TT and GG variants of the FokI and BsmI polymorphisms are related to a decrease in FCB. In the case of FokI, this decrement was independent of insulin sensitivity, vitamin D levels, percentage of body fat, gender, and age.

Meta-Analysis of Vitamin D Receptor Gene Polymorphisms in Childhood Asthma.

We conducted the systematic review to investigate the potential relationship between the vitamin polymorphisms of D receptor (VDR) gene and childhood asthma. Relevant studies researching on VDR polymorphisms and asthma susceptibility were searched throughout Embase, PubMed, China Science and technology journal database (CQVIP), etc. till 12 April, 2021. We calculated the pooled odds ratios (OR) and its 95% confidence interval (CI) using RevMan 5.3 software and Stata 11.0. FokI (rs2228570) could significantly affect childhood asthma risk across co dominant model (Ff vs. FF: OR (95%CI) = 0.82 (0.65, 1.02), P = 0.071) and dominant model (ff+Ff vs. FF: OR (95%CI) = 0.77 (0.63, 0.95), P = 0.016), especially among Caucasians in additive model (f vs. F: OR (95%CI) = 0.63 (0.43, 0.92), P = 0.015) and dominant model (ff+Ff vs. FF: OR (95%CI) = 0.67 (0.51, 0.88), P = 0.004). TaqI (rs731236) was significantly related with childhood asthma in additive model (t vs. T: OR (95%CI) = 0.45 (0.23, 0.89), P = 0.022), co dominant model (Tt vs. TT: OR (95%CI) = 0.36 (0.17, 0.77), P = 0.009), and dominant model (tt+Tt vs. TT: OR (95%CI) = 0.36 (0.15, 0.87), P = 0.024) among Asian, as well as population-based subgroup in co dominant model (Tt vs. TT: OR (95%CI) = 0.53 (0.31, 0.94), P = 0.029). However, no evidence supported the role of ApaI (rs7975232) and BsmI (rs1544410) polymorphisms in childhood asthma. FokI and TaqI polymorphisms were found to be related with the susceptibility of childhood asthma. However, it seems that ApaI and BsmI polymorphisms are not related with childhood asthma susceptibility.

Vitamin D Receptor Genetic Variations May Associate with the Risk of Developing Late Fracture-Related Infection in the Chinese Han Population.

Variations in the vitamin D receptor (VDR) gene are related to several inflammatory disorders. However, the potential links between such alternations and the risk of developing late fracture-related infection (FRI) remain unclear. This study investigated associations between genetic variations in the VDR and susceptibility to late FRI in the Chinese Han population. Between January 2016 and December 2019, 336 patients with late FRI and 368 healthy controls were genotyped six VDR genetic variations, including ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), TaqI (rs731236), GATA (rs4516035), and Cdx-2 (rs11568820). Significant associations were observed between rs7975232 and FRI susceptibility in the recessive (P = 0.019, OR = 0.530, 95% CI 0.310–0.906) model. Patients with AA genotype had a relatively higher level of serological vitamin D (20.6 vs. 20.3 vs. 17.9 ng/ml) (P = 0.021) than those of AC and CC genotypes. Although no statistical differences were observed, potential correlations may exist between rs1544410 (dominant model: P = 0.079, OR = 0.634), rs2228570 (dominant model: P = 0.055, OR = 0.699), and rs4516035 (dominant model: P = 0.065, OR = 1.768) and the risk of FRI development. In the Chinese cohort, ApaI was associated with a decreased risk of developing FRI, and patients with the AA genotype had a higher vitamin D level. Further studies are required to assess the role of genetic variations in BsmI, FokI, and GATA in the pathogenesis of late FRI.

Vitamin D Receptor (VDR) Gene Polymorphisms Modify the Response to Vitamin D Supplementation: A Systematic Review and Meta-Analysis.

The vitamin D receptor (VDR), a member of the nuclear receptor superfamily of transcriptional regulators, is crucial to calcitriol signalling. VDR is regulated by genetic and environmental factors and it is hypothesised that the response to vitamin D supplementation could be modulated by genetic variants in the VDR gene. The best studied polymorphisms in the VDR gene are Apal (rs7975232), BsmI (rs1544410), Taql (rs731236) and Fokl (rs10735810). We conducted a systematic review and meta-analysis to evaluate the response to vitamin D supplementation according to the BsmI, TaqI, ApaI and FokI polymorphisms. We included studies that analysed the relationship between the response to vitamin D supplementation and the genotypic distribution of these polymorphisms. We included eight studies that enrolled 1038 subjects. The results showed no significant association with the BsmI and ApaI polymorphisms (p = 0.081 and p = 0.63) and that the variant allele (Tt+tt) of the TaqI polymorphism and the FF genotype of the FokI variant were associated with a better response to vitamin D supplementation (p = 0.02 and p < 0.001). In conclusion, the TaqI and FokI polymorphisms could play a role in the modulation of the response to vitamin D supplementation, as they are associated with a better response to supplementation.

Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders.

The aim of this study was to assess the association between four vitamin D receptor (VDR) single nucleotide polymorphisms BsmI (rs1544410), ApaI (rs7975232), FokI (rs2228570) and TaqI (rs731236) and the susceptibility to chronic kidney disease (CKD) in Egyptian children and to evaluate their association with mineral status in these patients. The current study included 305 patients with CKD and 100 apparently healthy children. We measured the serum vitamin D (VD), para-thyroid hormone (PTH) level and fibroblast growth factor 23 (FGF-23) levels by ELISA method. The genotyping of the four VDR gene variants was carried out by PCR-RFLP technique. The TaqI AG &amp; the BsmI TT genotypes were associated with a significantly higher risk of CKD. The expression of 25-OH D serum level was decreased in patients with TaqI GG &amp; AG genotypes groups and in patients with BsmI TT genotype group The expression of PTH serum level was increased in patients with BsmI CT genotype group. The expression of FGF-23 serum level was increased in patients with Taq1 AG genotype group. We found 3 specific haplotypes; AGCA, AGCC and GGCA for healthy controls. Our study showed an association between VDR TaqI, BsmI polymorphisms and the susceptibility to CKD. The existence of VDR vari-ants affected the protein expression of VD, FGF-23 and PTH. The AGCA, AGCC and GGCA haplotypes were considered as protec-tive factors against the development of renal nephropathy in our population.

Polymorphism of the genetic determinants of bone mineral metabolism in various groups of the Komi people

The subject of the study is autochthonous population of the Northern and Middle Cis-Urals: Komi-Permyaks, Komi (Zyryans), and Komi-Izhems. The aim of the study is to compare the population frequencies of the LCT (rs4988235) and VDR (FokI rs2228570 and BsmI rs1544410) genes and to consider the contribution of environ-mental and cultural factors to the formation of differences in the genetic determinants of bone tissue metabolism. In total, 181 Komi-Permyak, 223 Komi, and 200 Komi-Izhem subjects were tested clinically and genetically. The evaluation consisted of the determination of polymorphic loci of VDR and LCT genes variants and assessment of clinical and laboratory lactase activity. The information on traditional diet and food composition was obtained from ethnographic materials. The study group of Komi-Izhems differs by a high proportion of C*LCT carriers (0.85) from the other two groups (p &lt; 0.05). The prevalence of hypolactasia, i.e., limited lactase production, is also higher (p &lt; 0.05) in Komi-Izhems (0.64) than in Komi-Permyaks (0.47) and Zyryans (0.41). The T*BsmI allele frequency is higher in Komi-Izems (0.493) in hetero- CT* (0.463) and homozygote TT* (0.261) genotypes, as compared to Zyryans (p &lt; 0.05, where the frequencies are 0.377, 0.329 and 0.212, respectively). The values of BsmI allele and genotype frequencies in Komi-Permyaks are intermediate and do not differ significantly from those in Komi-Izhems and Zyryans. The concentration of T*FokI is highest in Komi-Permyaks (0.528). They are followed by Zyryans (the difference is insignificant, p &gt; 0.05). Komi-Izhems have the smallest proportion of T*FokI allele carriers (0.400) and significantly differ from Komi-Permyaks (p = 0.01). The genotype distributions in FokI locus of VDR in the groups of Komi-Permyaks and Zyryans do not differ, but both show higher CT*FokI genotype frequencies than Komi-Izhems (0.549 and 0.569 against 0.288; p &lt; 0.001). Poor livestock production and a lack of milk in the traditional subsistence economy of the Komi-Permyaks weakened the selection in favor of T*LCT allele and lactase persistence. The low intake of calcium with milk was compensated by an increase in the sensitivity of the target organs to calciferol, the regulator of mineral metabolism, by maintaining the high frequency of carriers of T*BsmI and T*FokI alleles of VDR gene in the population. The more productive dairy farming of Zyryans stimulated selection in favor of lactase persistence. The possibility of continuous consumption of calcium from milk eased the selection pressure on VDR loci. The regulation by T*FokI produced a physiologically sufficient effect and T*BsmI carriership remained low. The diet of the Komi-Izhems, who were accustomed to high-latitude regions, comprised low-lactose dairy products. The population preserved a high carriage of C*LCT and the phenotype of hypolactasia. Moderately intensive selection for vitamin D receptor sensitivity showed up in the increase of VDR T*BsmI frequency only. The high D-vitamin status of the Izhem people was leveraged by the traditional diet with a considerable intake of ergocalciferol-rich venison and fish. The Komi-Permyaks, Komi (Zyryans) and Komi-Izhems occupied different ecological niches and the groups found different ways to adapt to the unfavorable bone-homeorhesis conditions. The flexible responses to the pressure of the environmental factors were imple-mented by the selection of variants of LCT, VDR FokI and VDR BsmI genes, which are located in different chro-mosomes and determine different stages of mineral metabolism. We contend that modern interpopulation differences in distribution of the genotypes and alleles are the manifestations of different strategies of ecological adaptation of anthropologically related groups.

Vitamin D receptor gene polymorphisms and risk of breast cancer in Iranian women

ObjectivesVitamin D deficiency is a driving force of common cancers like breast cancer. Vitamin D receptor (VDR) can play a tumor suppressor role by helping the precise function of vitamin D in cells such as modulation TGF-β signaling pathway. This study aimed to investigate the association of VDR gene variants and susceptibility to breast cancer in Iranian women. MethodsGenomic DNAs were isolated from blood samples of 161 women with breast cancer and 150 healthy women. After amplification of five positions of VDR gene, the prepared amplicons were digested with TaqI, ApaI, BsmI, Cdx2, and FokI restriction enzymes. ResultsSubsequently, the digested products were electrophoresed on the 1.5% agarose gel. Odds ratios (ORs) for breast cancer were calculated for genotypes and estimated haplotypes. Binary logistic regression analysis showed FokI (rs2228570), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms had the significant distribution in patients than to the normal group. Analysis of linkage disequilibrium for all pairs of SNPs showed that D′-value between SNP TaqI and SNP BsmI was significantly (p ≤ 0.05). We observed that four major haplotypes of ApaI, BsmI, FokI, Cdx2, and TaqI SNPs significantly were in high frequency than predicted frequency. Among these four haplotypes, CGTAT haplotype was in a higher significant association than others with breast cancer risk (p-value = 0.0001). ConclusionOur results showed that FokI, BsmI, and ApaI of VDR polymorphisms associated with the risk of breast cancer in Iranian population.

The role of vitamin D receptor gene polymorphisms in gestational diabetes mellitus susceptibility: a meta-analysis

BackgroundGestational diabetes mellitus (GDM) is a common disease during pregnancy. The association of vitamin D receptor (VDR) polymorphisms with GDM is still controversial. This study aimed to assess the associations between VDR polymorphisms and GDM risk.MethodsWe searched Cochrane Library, PubMed, and Embase electronic database for all eligible studies published from Jan 1, 1980 to December 31, 2020 to conduct a Meta-analysis. We analyzed four VDR polymorphisms: BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), and FokI (rs2228570). Inclusion Criteria: (1) The data can be evaluated; (2) case–control study; and (3) meeting the Hardy–Weinberg’s law. Exclusion criteria: (1) Insufficient or extractable data; (2) Severe publication bias in the data; and (3) duplicate publications. We eventually included 15 studies in seven articles, including 2207 cases and 2706 controls.ResultsWe eventually included 15 studies in seven articles, including 2207 cases and 2706 controls. The data showed that ApaI (rs7975232) VDR gene polymorphism was related with the risk of GDM for the comparison of CC vs AA and recessive model in overall population and FokI (rs2228570) VDR gene polymorphism was associated with the risk of GDM for recessive model in overall population. BsmI (rs1544410) polymorphism was not related with the risk of GDM in overall population. However, in the analysis of subgroups grouped by race, BsmI (rs1544410) has certain correlations. And, the data suggested the TaqI (rs731236) polymorphism was not associated with GDM.ConclusionBased on the meta-analysis, VDR ApaI (rs7975232) and FokI (rs2228570) polymorphisms increase susceptibility to GDM. In the future, it can be used to diagnose and screen molecular biomarkers for GDM patients.

Immunogenetic Prediction of VDR Gene SNPs: Lack of Association with Susceptibility to Type 1 Diabetes in Jordanian Patients.

PurposeThe interaction of Vitamin D and its receptor plays a crucial role in immune modulation. Therefore, the relationship between the pathogenesis of type 1 diabetes and the genetic variants of Vitamin D receptor, which is involved in the activity of Vitamin D, was studied extensively in different populations. The association of Vitamin D receptor gene polymorphisms with predisposition to type 1 diabetes revealed controversial and inconclusive results. The aim of this study was to examine the association of four Vitamin D receptor polymorphisms with type 1 diabetes in Jordanian patients.Patients and MethodsAnalysis of the single nucleotide polymorphisms FokI (rs2228570), ApaI (rs7975232), TaqI (rs731236) and BsmI (rs1544410) in 100 Jordanian volunteers (50 control and 50 Type 1 diabetes patients) was performed using the highly specific New Generation Sequencing technology.ResultsThe distribution of allele, genotype as well as haplotype frequencies exhibited no significant (P > 0.05) differences between type 1 diabetes patients and controls. Furthermore, no differences (P > 0.05) in the frequency of the genotypes of the Vitamin D receptor genetic variants were found in relation to the age of disease onset.ConclusionThese findings suggest these four single nucleotide polymorphisms of the Vitamin D receptor gene seem not to be associated with type 1 diabetes predisposition in Jordanian patients. Further wide genome studies are recommended to detect other genetic variant associations with type 1 diabetes among Jordanians.

Association of vitamin D receptor gene polymorphism with the occurrence of low bone density, osteopenia, and osteoporosis in patients with type 2 diabetes.

This study aims to analyze the association between VDR gene polymorphism and the occurrence of "low bone density (LBD)/osteopenia/osteoporosis" or LBDOO in type 2 diabetes (T2D) patients among a clustered population in northwest of Iran. The studied VDR gene polymorphism included ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), EcoRV (rs4516035) and, TaqI (rs731236). In this population-based cross-sectional study, patients with T2D were identified within a group of 1266 participants based on self-report of diabetes, history of diabetes medication, and recorded laboratory data. Separately for each polymorphism and gender, crude and adjusted (age, BMI) odds ratios (ORs) were calculated for participants with T2D through logistic regression analysis. The prevalence of T2D was 16.41% in people residing in the city of Sanandaj in 2011. Of the participants with T2D, 13.92% and 81.29% had osteoporosis and vitamin D deficiency, respectively. In women, the tt genotype of the TaqI gene significantly decreased the risk of LBDOO versus the Tt genotype, after adjusting for BMI and age (adjusted OR:0.18, CI95%: 0.03-0.97). Conversely, the EE genotype of the EcoRV gene enhanced the risk of LBDOO versus the Ee genotype (adjusted OR:7.64, CI95%: 2.03-28.72). The polymorphism of both TaqI and EcoRV genes was associated with the risk of LBDOO in women with T2D. This is the first time a study has highlighted this effect for the polymorphism of the EcoRV gene; we believe that this study would serve as a basis for future studies.

The role of TaqI, ApaI and BsmI polymorphisms of VDR gene in lumbar spine pathologies: systematic review and meta-analysis.

The objective of the present meta-analysis was to evaluate the association between TaqI (rs731236), ApaI (rs7975232) and BsmI (rs1544410) polymorphisms of the VDR gene and lumbar spine pathologies such as lumbar disc herniation and lumbar disc degeneration. VDR gene polymorphisms have been reported to be associated with an increased risk of lumbar spine pathologies. A systematic search was performed up to February 2020 using PubMed, EBSCO and Web of Science databases. We used the keywords and combinations "lumbar disc degeneration," "lumbar disc herniation," "lumbar spine pathologies" and "VDR polymorphism." Subsequently, we performed a meta-analysis with the results of the included studies. We found that the TaqI polymorphism was associated with an increased risk of developing lumbar spine pathologies (recessive model OR 1.25, 95% CI 1.01-1.54) and lumbar disc degeneration (allelic model OR 1.26, 95% CI 1.07-1.48; recessive model OR 1.34, 95% CI 1.06-1.69), but not with lumbar disc herniation. Additionally, ApaI was associated with an increased risk of developing lumbar spine pathologies (heterozygous model OR 1.45, 95% CI 1.06-1.98), but not with lumbar disc herniation or lumbar disc degeneration. Our findings indicate that TaqI and ApaI polymorphisms of the VDR gene are important risk factors for developing lumbar spine pathologies. Moreover, the TaqI polymorphism is a risk factor for lumbar disc degeneration.

Association between vitamin D receptor polymorphisms and acute pancreatitis: A protocol for systematic review and meta analysis.

Background:Several studies have been performed to investigate the association between vitamin D receptor (VDR) gene polymorphism and acute pancreatitis, but the results are inconclusive. We conducted this meta-analysis for a precise estimation of the association between BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), and FokI (rs2228570) polymorphisms and acute pancreatitis.Methods:Appropriate studies were retrieved by searching Web of Science, PubMed, Scopus, and Google scholar databases, until January 31, 2021. Two reviewers independently conducted data extraction and literature quality evaluation. Odds ratios and 95% confidence intervals were calculated to evaluate the strength of the association.All of the data were analyzed with Stata 16.0.Results:The results of this meta-analysis will be submitted to a peer-reviewed journal for publication.Conclusions:This meta-analysis will summarize the association between BsmI, ApaI, TaqI, and FokI polymorphisms and the risk of acute pancreatitis.Ethics and dissemination:Ethical approval was not required for this study. The systematic review will be published in a peer-reviewed journal, presented at conferences, and shared on social media platforms.OSF REGISTRATION NUMBER:DOI 10.17605/OSF.IO/83W7R.

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

BackgroundVitamin 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.MethodsIn 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.ResultsThe 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.ConclusionThe presented results suggest a potential association of the BsmI (rs1544410) and Taq1 (rs731236) VDR polymorphisms with CAD patients after myocardial infarction.

The Most Common Vitamin D Receptor Polymorphisms (ApaI,FokI, TaqI, BsmI, and BglI) in Children with Dental Caries: A Systematic Review and Meta-Analysis

Vitamin D participates in the calcification of enamel and dentin and the appropriate immune responses to oral microbial infections. We aimed to assess the association between the most common vitamin D receptor (VDR) polymorphisms (ApaI, FokI, TaqI, BsmI, and BglI) and the risk of dental caries in children. Methods: PubMed/MEDLINE, Cochrane Library, Web of Science, and Scopus databases were comprehensively searched until 19 January 2021. Meta-analysis with odds ratios as the effect estimate along with 95% confidence intervals and subgroup analysis were conducted using Review Manager 5.3 software. Publication bias and sensitivity analyses were conducted by Comprehensive Meta-Analysis, version 2.0 software. Results: Seventy-eight studies were retrieved from the databases, with nine studies included in the final analysis. Based on five genetic models, there was no association between ApaI (rs7975232), TaqI (rs731236), BsmI (rs1544410), FokI (rs2228570), and BglI (rs739837) polymorphisms and susceptibility to dental caries, except for the FokI (rs10735810) polymorphism. Conclusion: Among the VDR polymorphisms considered, an association was found between the FokI (rs10735810) polymorphism and the risk of dental caries, with a protective role of the f allele and ff genotype.

POLYMORPHISM VITAMIN D RECEPTOR GENE (VDR) BSMI (RS1544410) CHRONIC PERIODONTITIS PATIENT IN JAVANESE BANYUMAS ETHNIC

Background: Chronic periodontitis, a chronic inflammatory condition of periodontal tissue, can occur due to microorganisms as a local factor and genetic as a systemic factor. Genetic factors that cause chronic periodontitis, namely mutations in the form of a gene that functions to regulate calcium homeostasis, which is called the vitamin D receptor (VDR) gene. Mutated VDR gene causing different effect in a population and ethnic groups, including Javanese Banyumas Ethnic. Purpose: To understand the genotype distribution and VDR BsmI (rs1544410) gene allotype frequency chronic periodontitis patient in Javanese Banyumas Ethnic. Method: The research was descriptive research in the form of a cross-sectional study of 26 chronic periodontitis patients in the Javanese Banyumas tribe. The samples obtained were carried out by the process of DNA isolation, Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP), and data in the Hardy-Weinberg Equilibrium (HWE) Court Lab analysis. Result: Whole samples from DNA isolation amplificated with one ribbon 524 bp VDR gene. RFLP restriction enzyme Bsml process is also showing cutting in each sample. From data analysis, X2 is 0,44 with p=0,50 (p&gt;0,05) resulted. It was showing mutant VDR gene allele frequency in chronic periodontitis patients in Javanese Banyumas ethnic were balanced genetically. Conclusion: Genotype distribution in chronic periodontitis patient in Javanese Banyumas ethnic were 20 (76,9%) GG (bb) genotype, 6 (23,1%) GA (Bb) genotype, and 0 (0%) AA (BB) genotype with alel G (b) (wild type) allele frequency 0,88 (88%) and A allele (B or mutant) 0,12 (12%).

Vitamin D Receptor and Vitamin D Binding Protein Gene Polymorphisms Are Associated with Renal Allograft Outcome.

Vitamin D deficiency has adverse effects on renal allograft outcomes, and polymorphisms of genes encoding vitamin D-binding protein (VDBP) and vitamin D receptor (VDR) are defined to play a role in these conditions. The goal of the current investigation was to evaluate the connection between those polymorphisms with acute rejection, viral infection history, and recipients’ vitamin D status. In this study, 115 kidney transplant recipients and 100 healthy individuals were included. VDR polymorphisms including FokI (rs2228570), Apal (rs7975232), BsmI (rs1544410), as well as VDBP (rs7040) polymorphisms were studied using high resolution melting (PCR-HRM) analysis among the studied groups. The frequency of G allele in Apal rs7975232 polymorphism in the kidney transplant recipients was 0.63 times lower than healthy individuals (p = 0.026). Further, the G allele frequency in VDBP rs7040 polymorphism was significantly lower in patients with allograft rejection (p = 0.002). Considering the incidence of viral infection, significant differences were identified between the frequencies of VDR FokI (OR = 2.035; 95% CI 1.06–2.89, p = 0.030) and VDBP rs7040 (OR = 0.40; 95% CI 0.24–0.67, p < 0.001) T alleles in the studied groups. Moreover, the VDBP rs7040 GG genotype distribution was low in the recipients with a history of viral infection (p = 0.004). VDR (FokI) and VDBP (rs7040) alleles and their genotype distribution are significantly associated with allograft outcomes including allograft rejection and viral infection in the studied population.

Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis

IntroductionRheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease of unknown etiology which causes progressive deterioration of the joints, leading to severe pain and functional disability. Vitamin D and its receptor (VDR) play a significant part in the onset of autoimmune diseases such as RA. The purpose of this study was to evaluate the association between VDR gene polymorphisms and risk of developing RA.Material and methodsA retrospective study was performed, including 214 RA cases and 748 controls of Caucasian origin. FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqManResultsThe recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. Haplotype analysis revealed that the haplotypes ACGAG (p = 0.033; OR = 1.62; 95% CI: 1.04–2.53) and GTGCA (p &lt; 0.01; OR = 2.77; 95% CI: 1.53–4.98) for BsmI, Cdx2, FokI, ApaI and TaqI were associated with higher risk of RA.ConclusionsVDR FokI gene polymorphism showed a trend for risk of RA, taking into account the variables of gender, age and tobacco use, and preventing false positives. Among our patients we found no influence of VDR BsmI, TaqI, ApaI and Cdx2 on the risk of developing RA. However, haplotype analysis indicated that the haplotypes ACGAG and GTGCA were associated with higher risk of RA.

Vitamin D Status, Bone Mineral Density, and VDR Gene Polymorphism in a Cohort of Belarusian Postmenopausal Women.

Vitamin D plays an important role in bone metabolism and is important for the prevention of multifactorial pathologies, including osteoporosis (OP). The biological action of vitamin is realized through its receptor, which is coded by the VDR gene. VDR gene polymorphism can influence individual predisposition to OP and response to vitamin D supplementation. The aim of this work was to reveal the effects of VDR gene ApaI rs7975232, BsmI rs1544410, TaqI rs731236, FokI rs2228570, and Cdx2 rs11568820 variants on bone mineral density (BMD), 25-hydroxyvitamin D level, and OP risk in Belarusian women. Methods. The case group included 355 women with postmenopausal OP, and the control group comprised 247 women who met the inclusion criteria. TaqMan genotyping assay was used to determine VDR gene variants. Results. Rs7975232 A/A, rs1544410 T/T, and rs731236 G/G single variants and their A-T-G haplotype showed a significant association with increased OP risk (for A-T-G, OR = 1.8, p = 0.0001) and decreased BMD (A-T-G, −0.09 g/cm2, p = 0.0001). The rs11568820 A-allele showed a protective effect on BMD (+0.22 g/cm2, p = 0.027). A significant dose effect with 25(OH)D was found for rs1544410, rs731236, and rs11568820 genotypes. Rs731236 A/A was associated with the 25(OH)D deficiency state. Conclusion. Our novel data on the relationship between VDR gene variants and BMD, 25(OH)D level, and OP risk highlights the importance of genetic markers for personalized medicine strategy.

Vitamin D receptor gene polymorphisms and haplotypes in the etiology of recurrent miscarriages

A few years ago it was shown that disturbed metabolism of the vitamin D/receptor (VD/VDR) complex may be important in the etiology of spontaneous abortion, as well as in the etiology of recurrent miscarriages (RM). The goal of this study was to investigate the association between four maternal VDR polymorphisms as well as haplotypes settings and RM occurrence in a Polish population of women in reproductive age. A total of 230 women were recruited to this study (110 with RM, 120 consecutively recruited age-matched healthy women with at least two full-term pregnancies and with no history of miscarriages). DNA samples were genotyped for VDR polymorphisms: FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232) and TaqI (rs731236). Significant differences in genotype distributions and allele frequencies between case and control groups were observed in VDR BsmI polymorphism (GG vs. GA and AA, OR = 0.56, p = 0.036 and OR = 1.49, p = 0.035, respectively). The best evidence of an association with RM prevention was observed for the TTGT haplotype, which was more frequent among controls than cases even after permutation test (0.09 vs. 0.017, p = 0.0024). Other haplotypes were also significantly more frequent in the control group: TGT (rs7975232, rs1544410, rs2228570), TG (rs7975232, rs1544410), TTG (rs731236, rs7975232, rs1544410), TT (rs731236, rs7975232). Our research indicated the possible role of VDR BsmI genetic polymorphism in RM etiology, suggesting at the same time the active role of maternal VD metabolism and its influence on pregnancy outcome. The significant influence of several maternal haplotypes was shown to prevent RM occurrence.