Vitamin D Receptor TaqI Research Articles

Association Between Vitamin D Receptor BsmI Polymorphism and Low Bone Mineral Density in Postmenopausal Women in the MENA Region

Background/Objectives: Low bone mineral density increases the risk of bone fractures, and this condition is especially common in postmenopausal women. Genetic factors significantly influence bone mineral density. This meta-analysis examined the relationship between vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, and TaqI) and bone mineral density in postmenopausal women in the Middle East and North Africa (MENA) region. Methods: The PubMed, Embase, Scopus, and Web of Science databases were searched from inception to March 2024 for case–control studies on VDR BsmI, ApaI, and TaqI polymorphisms and their relationship with low bone density. Associations with low bone mineral density were tested with respect to different genetic models (dominant, recessive, allelic) using RevMan v5.3. Results: The meta-analysis included seven studies for BsmI, six for ApaI, and seven for TaqI, representing 704/689 cases/controls for BsmI, 914/711 for ApaI, and 974/895 for TaqI. No significant association was found between VDR polymorphisms and low bone mineral density in postmenopausal women, except in the dominant model (CC + CG vs. GG) for the BsmI variant (OR = 1.27, 95% CI: 1.01–1.59, p = 0.04). Conclusions: We found a modest association between the BsmI polymorphism and increased risk of low bone mineral density (BMD) in postmenopausal women from the MENA region, suggesting its potential as a biomarker. No associations were observed for ApaI or TaqI. These findings highlight the complex genetic–environmental interactions influencing BMD.

The role of vitamin d receptor gene polymorphisms in obesity: a systematic review and meta-analysis

Introduction: Obesity has become a major global issue since it can increase the risk of fatal disease. Genetic variation in the vitamin D receptor (VDR) gene is a potential candidate for obesity, though findings are inconclusive. Objectives: This meta-analysis aims to determine the association between VDR polymorphisms and obesity risk.Methods: All relevant studies from 1990 to January 2024 were screened using PubMed, Web of Science, Science Direct, and Scopus. This meta-analysis included studies meeting PROSPERO-registered eligibility criteria. Pooled odds ratios (OR) with 95% confidence intervals (CI) for six VDR gene polymorphisms (BsmI, FokI, TaqI, ApaI, and Cdx2) were generated using RevMan 5.4.Results: This meta-analysis included 23 studies with 5715 obese/overweight and 4887 non-obese individuals from China, Malaysia, Egypt, Turkey, India, Iran, UAE, Saudi Arabia, Czech Republic, Greece, USA, Denmark, Hungary, and Belgium. The findings show an association between VDR ApaI polymorphism and reduced obesity risk in homozygous models [aa vs. AA: OR=0.76, CI=0.60-0.97; P=0.03]. The TaqI variant is linked to increased obesity risk in Europeans under allelic [t vs. T: OR=1.33, CI=1.11-1.60; P=0.002], homozygous [tt vs. TT: OR=1.68, CI=1.13-2.50; P=0.010], dominant [tt vs. TT+Tt: OR=1.47, CI=1.07-2.03; P=0.02], and recessive [Tt+tt vs. TT: OR=1.43, CI=1.08-1.89; P=0.01] models.Conclusions: This meta-analysis suggests the aa genotype of VDR ApaI polymorphism may protect against obesity across populations. In Europeans, the t allele of VDR TaqI polymorphism is identified as an obesity risk factor

Vitamin D receptor (VDR) gene polymorphisms and risk for polycystic ovary syndrome and infertility: An updated systematic review and meta-analysis.

Vitamin D receptor (VDR) gene polymorphisms have been implicated in polycystic ovary syndrome (PCOS). Despite VDR gene polymorphisms importance and their risk for PCOS, they have not been extensively studied. The main objective was to evaluate the associations between VDR gene polymorphisms and risk for PCOS. The current systematic review and meta-analysis examined VDR gene polymorphisms with PCOS in case-control and cohort studies. Relevant keywords were used to search Scopus, Web of Science, PubMed, MEDLINE, ScienceDirect, and Google Scholar for peer-reviewed publications until July 1, 2024. Selected papers were assessed for risk bias and quality using the Modified Newcastle-Ottawa scale. A meta-analysis was conducted using a random-effect model. The association between VDR gene polymorphism(s) and PCOS in women was reported as odds ratios (ORs) with 95% confidence intervals (CIs). Twenty eligible studies, including 5618 subjects, were included in systematic review and meta-analysis. This study revealed a significant association between ApaI (rs7975232; OR=1.18, 95% CI=1.06-1.30, p<0.01), BsmI (rs1544410; OR=1.22, 95% CI=1.08-1.37, p<0.01), Cdx2 (rs11568820; OR=1.15, 95% CI=0.97-1.38, p<0.01), and TaqI (rs731236; OR=1.25, 95% CI=1.13-1.39, p<0.01). However, there was no significant association in the FokI (rs22228570; OR=1.01, 95% CI=0.91-1.112, p=0.12) polymorphism with PCOS risk. The present systematic review and meta-analysis shows that women with ApaI, BsmI, Cdx2, and TaqI VDR gene polymorphisms may have a higher risk of PCOS. This study was registered on the Prospective International Registry of Systematic Reviews (PROSPERO) with registration number CRD42024564851.

Vitamin D Receptor Gene Polymorphisms Differentiated Between Tuberculosis Disease and Infection: Causal Association Study.

Latent tuberculosis infection (LTBI) is a critical stage in tuberculosis (TB)control, and few studies have addressed the role of vitamin D receptor(VDR) gene polymorphisms in differentiating between TB and late-onset TB from an immunogenetic perspective. Recruitment of tuberculosis patients and latently infected population in Urumqi, Xinjiang, and use of propensity score matching(PSM) to match the two groups and control confounding to further construct a Bayesian network to analyze causal associations between VDR polymorphisms and tuberculosis disease status. 137 LTBI and 237 TB were obtained through PSM. Logistic regression showed that the VDR gene BsmI locus, TaqI locus, and ApaI locus were associated with a higher risk of TB in a codominant model (P<0.05). Further Bayesian network construction showed that occupation and being a VDR gene BsmI locus were direct influences on TB disease status, and the VDR gene TaqI locus played an indirect role through the BsmI locus, and the probability of TB risk was highest in individuals with manual labour and BsmI locus of the C/T type, which was 84.15%. Bayesian network modelling intuitively revealed that individuals with a C/T type of BsmI locus and physical labour are at high risk of TB compared with TB infection, and they are key factors between with TB disease, providing reference evidence for controlling TB progression.

Gene Variants of Vitamin D Receptor (TaqI T &gt; C (rs731236) and BsmI G &gt; A (rs1544410) in Urolithiasis

Background: Urolithiasis is the most prevalent uronephrologic disorder caused by genetic, environmental factors, and metabolic defects. Objectives: The present study aimed to find a possible association between the vitamin D receptor (VDR) TaqI and the BsmI gene polymorphisms in relation to the serum levels of calcium (Ca) and vitamin D and the risk of urolithiasis. Methods: This case-control study was conducted on 68 children with urolithiasis and 67 healthy controls for the VDR gene polymorphisms using the polymerase chain reaction-restriction length polymorphism method. Results: The frequency of TaqI C allele was 36% in patients compared to 32.1% in controls (P = 0.49). A significantly higher frequency of the TaqI CC genotype was found among patients in the age group &gt; 5 to 10 years. No significant difference was detected in the frequency of the BsmI A allele between patients (41.9%) and controls (42.5%, P = 0.91). However, a significantly lower frequency of the BsmI AA genotype was detected compared to those patients with Ca levels of &gt; 10.8 mg/dL among patients with Ca levels of ≤ 10.8 mg/dL. Conclusions: Based on the results, a lack of an association between the VDR TaqI and BsmI polymorphisms with the risk of urolithiasis among children from Western Iran. However, a higher frequency of the TaqI CC genotype was found in the age group &gt; 5 to 10 years. In addition, lower levels of Ca in patients were related to a significantly lower frequency of the BsmI AA genotype. The VDR gene BsmI polymorphism might affect the calcium level and the calcium metabolism in urolithiasis.

Association of TaqI (rs731236) Polymorphism of Vitamin D Receptor Gene with Lumbar Degenerative Disc Disease

Lumbar degenerative disc disease (LDDD) significantly contributes to low back pain, with a complicated etiology involving genetic and environmental facts. The aim of study was to investigate the association between the TaqI (rs731236) polymorphism of the vitamin D receptor (VDR) gene with LDDD. In total, 248 patients with symptomatic LDDD and 146 control subjects were examined. The evaluation of clinical features of patients with LDDD comprised radiodiagnostic magnetic resonance imaging, neurologic examinations, pain scores including the visual analog scale (VAS), and disability investigation with Oswestry Disability Index (ODI). Genotyping of the VDR gene polymorphism was conducted using polymerase chain reaction-based methods. Individuals of the LDDD group who were VDR TaqI AA genotype carriers were significantly greater than the other group (P= 0.014), whereas those with GG genotype were significantly lower (P= 0.028) in the patient group. In addition, VAS and ODI scores were significantly lower in the GG genotype carrier group, whereas AA genotype carriers had the greatest scores (P= 0.004). Carrying the G allele decreased the risk of LDDD 1.7 times (P= 0.014) and carrying the A allele enhanced the risk 1.8 times (P= 0.028). Moreover, G-allele carriers had significantly lower VAS (P= 0.002) and ODI scores (P < 0.0001). VDR TaqI (rs731236) GG genotype and G allele have protective potential, whereas the AA genotype and A allele are risk factors for LDDD. The findings reveal a statistically significant association of the TaqI (rs731236) polymorphism of VDR gene polymorphism with LDDD. This result highlights the potential role of genetic factors in developing LDDD and suggests avenues for future research in genetic screening and personalized treatment strategies.

Vitamin D receptor gene polymorphisms role in COVID-19 severity: Results of a Mexican patients' cohort.

Vitamin D status has been involved with coronavirus disease 19 (COVID-19) severity. This may be mediated by vitamin D metabolism regulatory genes. Of interest is the vitamin D receptor (VDR) gene, which has been previously associated with other inflammatory and respiratory diseases. In order to investigate the role of VDR gene polymorphisms in COVID-19 severity and outcome, a total of 292 COVID-19 patients were classified according to severity in moderate (n=56), severe (n=89) and critical (n=147) and, according to outcome in survivor (n=163) and deceased (n=129), and analysed for FokI and TaqI VDR gene polymorphisms by polymerase chain reaction-based restriction enzyme digestion. The FokI and TaqI single nucleotide polymorphisms (SNPs) were not associated with COVID-19 severity or mortality individually but when analysed by haplotype, TC was associated with an increased risk of presenting critical COVID-19. Additionally, FokI CT genotype was more frequent in COVID-19 patients with hypertension, and T allele carriers presented higher aspartate aminotransferase levels. Our results suggest a relationship between VDR FokI and TaqI SNPs and COVID-19 severity in Mexican population. Although there are some previous reports of VDR polymorphisms in COVID-19, this represents the first report in Latin American population. Further studies on other populations are encouraged.

Study of Association of Vitamin D Receptor Gene Polymorphisms with Diabetic Nephropathy

Abstract Background: Type 2 diabetes leads to many microvascular complications, including diabetic nephropathy, also referred to as diabetic kidney disease. Vitamin D deficiency may play a role in the development of type 2 diabetes and nephropathy. The functions of vitamin D are mediated through vitamin D receptor (VDR). Three single nucleotide polymorphisms (SNPs) in VDR gene, namely, TaqI (rs731236), ApaI (rs7975232), and BsmI (rs1544410), have been widely studied in association with diabetes and nephropathy. The objective of this study was to investigate the association of these VDR gene SNPs with nephropathy in the South Indian population. Additionally, the effect of VDR gene variants on vitamin D levels was also investigated. Subjects and Methods: Two hundred forty-eight individuals with type 2 diabetes without nephropathy (T2DM) and 399 individuals with type 2 diabetes with nephropathy (T2DN) were genotyped for this study. Genotyping of TaqI was performed using the polymerase chain reaction-restriction fragment length polymorphism method. BsmI and ApaI were genotyped using MassArray. Anthropometric and biochemical data were collected for all participants. Vitamin D levels were measured in a subset of 47 T2DM and 74 T2DN individuals. Statistical analysis was performed using Statistical Package for the Social Sciences version 21.0 (IBM Corporation, Armonk, NY). Results: The genotype and minor allele frequencies of TaqI, BsmI, and ApaI were not significantly different between T2DM and T2DN groups. However, vitamin D levels were significantly reduced in T2DN (15.5 ± 1.16 ng/ml) compared to T2DM (20.5 ± 2.11 ng/ml, P = 0.027). No significant differences were found in the vitamin D levels when the T2DM and T2DN groups were stratified based on TaqI, BsmI, and ApaI genotypes. Conclusion: This study did not find a significant association of VDR SNPs (TaqI, BsmI, and ApaI) with T2DN. However, the study suggested a protective role of vitamin D levels in T2DN.

Vitamin D Receptor Polymorphisms in a Spanish Cohort of Parkinson's Disease Patients.

Background: Vitamin D receptor (VDR) is a nuclear hormone receptor widely expressed in the substantia nigra. Its association with an increased risk of Parkinson's disease (PD) is based on vitamin D deficiency and/or different polymorphisms in its gene receptor. This fact has been demonstrated by several case-control studies. Materials and Methods: Consequently, we investigated the association between VDR ApaI, BsmI, FokI, and TaqI gene polymorphisms and PD in a Spanish cohort that included 54 cases and 17 healthy controls. The detection of single nucleotide polymorphisms (SNPs) was performed using a polymerase chain reaction-restriction fragment length polymorphism. Results: Our data indicate that the SNPs were not associated with the age of onset of PD, nor with the occurrence of motor symptoms. However, only BsmI polymorphism was significantly associated with PD in this Spanish cohort. In fact, BsmI genotype was five times higher among PD patients than among controls, and the A allele was considered as a genetic risk for PD. Additionally, the combination of FokI and BsmI polymorphisms was significantly associated with PD and could represent a risk factor. Conclusion: We conclude that ApaI, TaqI, and FokI polymorphisms were not associated with PD, but BsmI could be a risk factor for PD in this randomized population.

Assessment of vitamin D status and vitamin D receptor polymorphism in Egyptian children with Type 1 diabetes

BackgroundThe endocrine system of vitamin D regulates about 3 % of the human genome. Vitamin D exerts its actions via a nuclear vitamin D receptor (VDR) which in turn regulates insulin secretion from the pancreas. VDR gene polymorphisms could have an impact on how autoimmune illnesses like Type 1 diabetes mellitus (T1DM) develop. We aimed to explore the relation between T1DM and VDR gene polymorphisms in Egyptian diabetic children and their siblings. MethodsEnzyme-linked immunosorbent assay was used to quantify 25(OH) vitamin D in the study, which had 179 participants (group 1 = 85 diabetic children, group 2 = 57 siblings of the patients, group 3 = 37 healthy controls). Real-time polymerase chain reaction (RT-PCR) was used to analyze the genotyping of the VDR gene polymorphisms Apa-I (rs7975232), Fok-I (rs2228570), Taq-I (rs731236) and Bsm-I (rs1544410). ResultsThe mean serum 25(OH) vitamin D levels was significantly lower in T1DM patients (14.99 ± 9.24 ng/mL) and siblings (16.31 ± 7.96 ng/mL) compared to the controls (19.48 ± 7.42 ng/mL) (p = 0.031). The genotypes distribution of VDR Fok-I (rs2228570) and Bsm-I (rs1544410) polymorphisms showed a significant difference between patients, siblings and controls as P = 0.001 and 0.026 respectively, while the VDR ApaI and TaqI polymorphisms did not. FokI-A allele frequency was significantly lower in T1DM patients and siblings than in controls (p < 0.001). FokI-AA genotype had a statistical significant higher vitamin D levels than other genotypes with p value of 0.024. ConclusionOur study found that T1DM children had lower vitamin D levels, and VDR FokI and BsmI gene polymorphisms were linked to T1DM in Egyptian children. Determining the relationship between vitamin D levels and VDR polymorphisms, particularly the FokI and other genetic analyses may aid in the early diagnosis of T1DM in children.

Vitamin D receptor (VDR) variants are risk factors for ovarian cancer: a meta-analysis and trial sequential analysis

The importance of Vitamin D in ovarian cancer (OC) has been well documented, and lower levels have been associated with susceptibility to OC. Vitamin D exerts its effect through the vitamin D receptor (VDR). Common genetic variants in the VDR gene (Fok I, TaqI, BamI and ApaI) have been linked with the susceptibility to the development of OC; however, the reports remain contradictory. To draw a valid conclusion, we performed a meta-analysis of the earlier published reports in the present study. The literature search was performed in PubMed, Google Scholar, and Scopus databases. All relevant articles were screened, and eligible reports were identified based on prefixed inclusion and exclusion criteria. Data such as author’s details, year of publication, ethnicity, genotype and allele prevalence in cases and controls were extracted from the eligible reports. The meta-analysis was performed using Comprehensive Meta-analysis Software (CMA) V3. Eight articles, including data from fourteen independent cohorts, comprised 4276 cases and 6739 healthy controls considered for the analysis. VDR FokI and BamI variants revealed a significant association with an increased risk of OC. Other VDR polymorphisms (TaqI and ApaI) failed to demonstrate such an association with OC. Interestingly, the sensitivity analysis revealed minimal deviation from the parent meta-analysis, supporting the robustness of the present analysis. The trial sequential analysis revealed the inclusion of a sufficient number of studies for FokI polymorphism. It highlighted the requirement for additional case-control studies in VDR (ApaI, BamI and TaqI) to draw a definitive conclusion. FokI and BamI polymorphisms are associated with susceptibility to OC.

Frequency of Healthy Control Genotype of VDR Gene Polymorphisms in the Saudi Population of the Ha'il Region: A Comparative Study with Worldwide Population.

Genetic polymorphisms in the vitamin D receptor (VDR) may influence the biological effects of vitamin D and increase a person's susceptibility to cancer. Previous studies have shown that different ethnic groups exhibit varying frequencies of the VDR gene variants TaqI, ApaI, FokI, and BsmI. However, the allelic distribution of these VDR polymorphisms in the Saudi population of Ha'il region is not sufficiently explored. In this study, efforts were made to ascertain the frequency of VDR polymorphisms in the Saudi population of Ha'il region, and then comparison was made for VDR polymorphism rates with other populations of the world. Allele and genotype frequencies of VDR TaqI, ApaI, BsmI and FokI gene was determined. The frequency distribution for the variant allele of VDR TaqI, ApaI, BsmI and FokI was found to be 70, 33, 50 and 25%, respectively. A significant frequency distribution was found for VDR-TaqI, ApaI and FokI variants in comparison with other populations of the world. Whereas, almost all of the studies dealing with VDR-FokI failed to show substantial difference while comparing with the data reported from the population of Ha'il region of Saudi Arabia. A significant pattern in the frequency of VDR gene variations have been found in the Saudi population of Ha'il region, which may be attributed to ethnic variance. The understanding of the worldwide distribution of VDR markers could help with high-risk screening of those who are exposed to environmental hazards and people of Ha'il region, who are predispose to cancer.

Exploring the Influence of VDR Genetic Variants TaqI, ApaI, and FokI on COVID-19 Severity and Long-COVID-19 Symptoms.

There is increasing evidence regarding the importance of vitamin D in the prognosis of coronavirus disease 2019 (COVID-19). Genetic variants in the vitamin D receptor (VDR) gene affect the response to vitamin D and have been linked to various diseases. This study investigated the associations of the major VDR genetic variants ApaI, FokI, and TaqI with the severity and long post-infection symptoms of COVID-19. In total, 100 Jordanian patients with confirmed COVID-19 were genotyped for the VDR ApaI, FokI, and TaqI variants using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. COVID-19 severity, the most commonly reported long-COVID-19 symptoms that lasted for >4 weeks from the onset of infection, and other variables were analyzed according to VDR genetic variants. In this study, ApaI and FokI polymorphisms showed no significant associations with COVID-19 severity (p > 0.05). However, a significant association was detected between the TaqI polymorphism and the severity of symptoms after infection with the SARS-CoV-2 virus (p = 0.04). The wild-type TaqI genotype was typically present in patients with mild illness, whereas the heterozygous TaqI genotype was present in asymptomatic patients. With regard to long-COVID-19 symptoms, the VDR heterozygous ApaI and wild-type TaqI genotypes were significantly associated with persistent fatigue and muscle pain after COVID-19 (p ˂ 0.05). Most carriers of the heterozygous ApaI genotype and carriers of the wild-type TaqI genotype reported experiencing fatigue and muscle pain that lasted for more than 1 month after the onset of COVID-19. Furthermore, the TaqI genotype was associated with persistent shortness of breath after COVID-19 (p = 0.003). Shortness of breath was more common among individuals with homozygous TaqI genotype than among individuals with the wild-type or heterozygous TaqI genotype. VDR TaqI is a possible genetic variant related to both COVID-19 severity and long-COVID-19 symptoms among Jordanian individuals. The associations between VDR TaqI polymorphisms and long-COVID-19 symptoms should be investigated in larger and more diverse ethnic populations.

Biochemical markers and FokI and TaqI vitamin D receptor genes polymorphism in rheumatoid arthritis

BackgroundPrevious studies have reported the role of genes in different metabolic processes in the human body, and any variation in gene polymorphisms could lead to disturbances in these processes and different diseases.ObjectiveThis study aimed to compare vitamin D receptor (VDR) FokI and TaqI genotypes in terms of parathyroid hormone (PTH) and some biomarkers of inflammation and susceptibility to rheumatoid arthritis (RA) disease.MethodsThis study included 100 patients with rheumatoid arthritis (RA). Genotyping was performed by polymerase chain reaction (PCR) and examined by specific restriction enzymes using restriction fragment length polymorphism (RFLP). Serum intact PTH, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), rheumatoid factor (RF), and anti-cyclic citrullinated peptide antibodies (ACCPs) levels were measured.ResultsAn increased PTH level (> 65 pg/ml) was found in 8% of patients. No significant differences among FokI and TaqI vitamin D receptor genes polymorphism regarding positive and negative RF or ACCPs were found. A significant difference was found among FokI (p = 0.009) and none in TaqI genotypes regarding intact parathyroid hormone level categories. No significant correlation was found between the serum intact PTH level and ESR or CRP levels (P = 0.13 and 0.28, respectively). The parathyroid hormone level was not a good predictor for RF or ACCPs (P = 0.5 and 0.06, respectively).ConclusionThe FokI gene may play a role in controlling PTH levels in patients with RA. There was no significant correlation found between the serum intact PTH level and RA severity according to ESR and CRP inflammatory biomarkers. There are no differences between VDR genes FokI and TaqI polymorphism in terms of RA susceptibility (for RF and ACCPs).

Some genetic differences in patients with rheumatoid arthritis

ObjectiveVitamin D is important for bone and cartilage metabolism. Changes in vitamin D blood level may be related to pathological disorders such as rheumatoid arthritis (RA). The main aim of this study is to investigate the association between RA and the vitamin D receptor (VDR) genes FokI and TaqI polymorphisms. One hundred RA patients and fifty healthy matched controls were assessed for VDR FokI and TaqI genotyping. Intact parathyroid hormone (PTH) and calcium (Ca) levels were measured, categorized, and compared between the cases and control groups.ResultsWe found that the FokI genotype frequencies for the RA cases and control groups were FF:Ff:ff = 46%:52%:2% and 50%:50%:0%, respectively (P = 0.76). The TaqI genotype frequencies for the RA cases and control groups were TT:Tt:tt = 45%:44%:11% and 42%:42%:16%, respectively (P = 0.69). A statistically significant high serum PTH level was associated with the ff genotype (p = 0.03), and a significantly low serum Ca level was associated with the TT genotype (p = 0.003). In comparison with controls, no influence of VDR FokI and TaqI genotypes on RA susceptibility or risk was demonstrated.

Vitamin D Receptor Gene Polymorphism Predicts the Outcome of Multidisciplinary Rehabilitation in Multiple Sclerosis Patients.

Better knowledge about the possible role of genetic factors in modulating the response to multiple sclerosis (MS) treatment, including rehabilitation, known to promote neural plasticity, could improve the standard of care for this disease. Vitamin D receptor (VDR) gene polymorphisms are associated with MS risk, probably because of the role played by vitamin D in regulating inflammatory and reparative processes. The aim of this study was to evaluate the association of the most important functional VDR SNPs (TaqI (T/C), ApaI (A/C), and FokI (C/T)) with functional outcome in MS patients undergoing multidisciplinary inpatient rehabilitation (MDR) treatment, in order to determine whether genetic profiling might be useful to identify subjects with a higher chance of recovery. To this end, 249 MS inpatients with a diagnosis of either progressive (pMS; n = 155) or relapsing remitting (RRMS; n = 94) disease who underwent MDR treatment (average duration = 5.1 weeks) were genotyped for VDR SNPs by real-time allelic discrimination. The rehabilitation outcome was assessed using the modified Barthel Index (mBI), Expanded Disability Status Scale (EDSS), and pain numerical rating scores (NRS) at the beginning and the end of MDR treatment. A positive correlation was observed in RRMS patients between the VDR TaqI major allele (TT) and mBI increase (i.e., better functional recovery), as assessed by the linear and logistic regression analysis adjusted for gender, age, disease duration, time of hospitalization, HLA-DRB1*15.01 positivity, and number of rehabilitative interventions (Beta = 6.35; p = 0.0002). The VDR-1 TaqI, ApaI, FokI: TCC haplotype was also associated with mBI increase in RRMS patients (Beta = 3.24; p = 0.007), whereas the VDR-2: CAC haplotype was correlated with a lower mBI increase (Beta = -2.18 p = 0.04) compared with the other haplotypes. VDR TaqI major allele (TT), as well as the VDR-1 TaqI, ApaI, FokI: TCC haplotype could be associated with a better rehabilitation outcome in RRMS patients.

Increased susceptibility to complicated pneumonia among egyptian children with FokI (rs2228570), not TaqI (rs731236), vitamin D receptor gene polymorphism in association with vitamin D deficiency: a case-control study

BackgroundDetermining a genetic contribution to the development of complicated community-acquired pneumonia in children may help understand underlying pathogenesis. We aimed to investigate the association between two vitamin D receptor (VDR) gene polymorphisms, FokI and TaqI, and susceptibility to complicated pneumonia in Egyptian children compared to uncomplicated pneumonia. Associations with 25 hydroxy-vitamin D serum level were studied.MethodsThis was a case-control study that included 320 participants divided into 2 groups: patients and controls. The patients’ group included 100 children hospitalized with complicated pneumonia and 100 with uncomplicated pneumonia. 120 age and sex-matched apparently healthy children served as controls. The VDR FokI and TaqI polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. 25 hydroxy-vitamin D level was estimated in serum using ELISA.ResultsRegarding FokI, homozygous CC genotype was more common in complicated (52%) than uncomplicated pneumonia (28%) and controls (10%) (OR = 65; 95%CI (5.13-822.63), p < 0.001) and (OR = 4.3; 95%CI (0.7-27.16), p = 0.003), respectively. Children carrying C allele possessed 3 higher odds for complicated than uncomplicated pneumonia (OR = 3.08; 95%CI (1.33–7.14), p < 0.001). Heterozygous CT genotype increased susceptibility to complicated pneumonia (OR = 13.7; 95%CI (4.6–40.1), p < 0.001), not uncomplicated pneumonia (OR = 1.56; 95%CI (0.86–2.85), p = 0.145). Among complicated pneumonia, vitamin D level was lower in CC (6.92 ± 2.6ng/ml) than CT (9.55 ± 3.2 ng/ml) and TT genotype carriers (13.13 ± 3.6ng/ml) (p < 0.001). There was no significant difference between patients and controls as regards TaqI genotypes and alleles.ConclusionIn association with vitamin D deficiency, VDR gene FokI polymorphism, not TaqI, is a genetic risk factor for complicated pneumonia in Egyptian children.

A Family-based Association Test of the VDR Gene in Proximal Spinal Muscular Atrophy

Different factors may be involved in the clinical heterogeneity of spinal muscular atrophy disease. The vitamin D receptor (VDR) might be a candidate gene for this disease. Our study aimed to assess the preferential transmission of VDR polymorphisms from parents to SMA children. We genotyped 261 subjects (87 SMA nuclear families) for VDR FokI, BsmI, ApaI, and TaqI polymorphisms. The transmission of the genetic marker was estimated with Plink and FBAT software. It detected a preferential transmission of the rs731236 and rs7975232 variants to SMA1 patients and of rs1544410 variants to SMA2 patients. The variants of rs2228570 were preferentially transmitted to parents of all SMA patients. Haplotype analysis identified that haplotypes C-C-G-A and T-A-A-G seem to be involved in the booth type of SMA whereas the impact of T-A-A-A seems to be limited only to SMA2. Strong linkage disequilibrium (LD) between rs7975232 and rs1544410 was detected in samples from parents. Even though we investigated a small number of nuclear families the results suggest a potential link between VDR polymorphisms and SMA disease.

VITAMIN D RECEPTOR GENE APAI AND TAQI POLYMORPHISM IN PATIENTS WITH TYPE II DIABETES MELLITUS USING PCR-RFLP METHOD IN KURDISTAN REGION

Background: Type 2 diabetes mellitus that characterized by insulin resistance and it is a risk of many diseases the impact of genetic factors on diabetes is well documented. Vitamin D receptor (VDR) gene polymorphisms have been linked to T2DM. In this study, we analyzed the relation between TaqI and ApaI VDR gene polymorphisms and T2DM subjects by using the PCR-RFLP method in Kurdish patients.

Serum vitamin D levels and vitamin D receptor gene ApaI and TaqI polymorphisms in patients with morphea: a case-control study.

A uncommon inflammatory condition called morphea causes fibrosis in the skin and subcutaneous tissue. The key stages in the pathophysiology are vascular damage, immunological response, and fibrosis. Numerous research have examined the relationships between the immune system, fibrosis, and vitamin D, but the exact pathogenetic pathways of morphea remain poorly understood. The purpose of this study was to investigate serum 25(OH)D levels and the ApaI (rs7975232) and TaqI (rs731236) polymorphisms of the vitamin D receptor (VDR) in morphea patients. There were 48 age- and sex-matched controls and 41 morphea patients total. VDR polymorphisms were found using PCR tests and gel electrophoresis, and serum 25(OH)D levels were determined using liquid chromatography combined with tandem mass spectrometry (LC-MS/MS). The patient group consisted of 37 females (90.2%) and 4 males (9.8%). The patients' mean age was 38.68 ± 17.54years. In terms of VDR ApaI and TaqI polymorphisms, there was no discernible difference between the patient and control groups. TaqI polymorphism heterozygosity was discovered in all patients with progressive disease, and this finding was statistically significant (p = 0.012). Patients' mean serum 25(OH)D levels were 16.98 ± 11.55ng/mL, while those in the control group were 18.02 ± 14.30ng/mL. VDR polymorphisms, vitamin D levels, disease subtype, age of onset, and responsiveness to treatment did not significantly correlate. In our research, we discovered that TaqI polymorphism may be related to the severity of the disease and that the polymorphisms of the VDR ApaI and TaqI were not associated with morphea susceptibility.