Vitamin D Receptor Gene FokI Polymorphism Research Articles

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.

Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis.

Multiple sclerosis (MS) is an inflammatory disease characterized by demyelination and axonal degeneration affecting the central nervous system. Among the genetic factors suggested to be associated with this disease are polymorphisms to the vitamin D receptor (VDR) gene. We tested the hypothesis that polymorphisms in the vitamin D receptor (VDR) gene are associated with MS. The aim of the study was to investigate the relationship of MS with the VDR gene Fok-I, Bsm-I and Taq-I polymorphisms among the Turkish population. This study contains 271 MS patients and 203 healthy controls. Genomic DNA was isolated from the samples and the VDR gene Fok-I, Bsm-I and Taq-I polymorphism regions were amplified by polymerase chain reaction (PCR). The PCR products were digested, and the genotypes were determined based on size of digested PCR products. Our results demonstrate associations between MS and the distribution of the VDR gene Fok-I T/T polymorphism genotype in a dominant model, VDR gene Fok-I T allele frequency, distribution of VDR gene Taq-I C/C polymorphism genotype in a dominant model and VDR gene Taq-I C allele frequency (Pearson test, p<0.05). However, there was no association between MS and the VDR gene Bsm-I polymorphisms for the genotype distribution (Pearson test, p>0.05) or allele frequency (Pearson test, p>0.05). Fok-I and Taq-I VDR gene polymorphisms are significantly associated with MS in dominant, homozygote and heterozygote inheritance models among the Turkish population.

Significant association between TaqI and FokI VDR gene polymorphisms and chronic spontaneous urticaria in a Colombian Caribbean population.

Chronic spontaneous urticaria (CSU) is an inflammatory skin disease related to poor quality of life. Previous studies have found that vitamin D deficiency and vitamin D receptor (VDR) TaqI, BsmI, FokI, and ApaI gene single-nucleotide polymorphisms (SNPs) influence immune response and susceptibility to skin disorders. To explore the role of VDR SNPs, and the association of vitamin D serum levels in a sample of Colombian Caribbean CSU patients. Methods: It is a case-control study. A group of CSU patients (n = 100) was compared with healthy individuals as a control group (n = 100). VDR polymorphisms were genotyped by quantitative polymerase chain reaction and Taqman® probes. Allelic, genotypic, and haplotype associations were estimated. Serum vitamin D levels were measured using enzyme-linked-immunosorbent serologic assay. Compared to the control group, the presence of G allele in TaqI and A allele in FokI SNPs of VDR gene was found to be a risk factor for CSU (odds ratio (OR) estimated using logistic regression adjusted by gender: 2.08 and 1.61, respectively, all P values < 0.05). The individuals who carry GCCA haplotype showed decrease in vitamin D levels (11.34 ng/mL; P = 0.002) with the G allele of TaqI and A allele of FokI gene SNPs. We reported for the first time the association of TaqI [rs731236] and FokI [rs2228570] VDR gene SNPs showing as a risk factor for CSU in a sample of multiethnic patients from the Colombian Caribbean population.

Association Between Vitamin D Receptor Gene FokI Polymorphism and Pulmonary Tuberculosis

Backgrounds: There is a wide range of individual responses to mycobacterium infection. However, the reason why certain people suffers from a disease when they are infected with mycobacterium while others remain healthy is still unknown. Genetic susceptibility is thought to be one of the important explanatory factors for individuals with the risk of developing pulmonary tuberculosis (TB). FokI polymorphism was one of the genetic variations within the vitamin D receptor (VDR) gene associated with pulmonary TB. In the present study, we investigated the association between VDR gene FokI polymorphism and pulmonary TB. Conclusion: There was no significant association between the VDR gene FokI polymorphism and pulmonary TB.

Evaluation of VDR gene FokI polymorphism and serum vitamin D level in gestational diabetes mellitus (Egyptian case-control study)

Gestational diabetes mellitus (GDM) affects 1%–14% of all gestations. The importance of GDM stems from its relationship with adverse pregnancy outcomes. This study aimed to evaluate the correlations of vitamin D receptor (VDR) gene FokI polymorphisms with GDM in the Egyptian population. In a comparative case-control study, 196 pregnant women were divided into GDM and control groups (98 each group). The VDR gene FokI genotypes were determined in pregnant women under investigation. Both groups show no statistically significant difference for serum 25-hydroxy vitamin D (25-OHD) level, maternal age, gestational age in weeks, parity, and blood pressure. On the other hand, past miscarriage history, body mass index (BMI), glycated hemoglobin (HbA1c), and homeostasis model assessment for insulin resistance (HOMA-IR) were significantly higher in the GDM group vs. the control group. Genotype CC was found as a risk factor for GDM due to the increased odds ratio (OR) 3.78 [(1.57–8.62)] (P = 0.002). The risk of GDM decreased significantly with the dominant homozygous allele T in the tested polymorphism TT + TC vs. CC (OR = 0.32, 95% CI = 0.15–0.68 and p-value = 0.002). Genotype CC is associated with vitamin D deficiency [OR 14.4 (4.03–51.5), P = 0.001], and C allele is also associated with vitamin D deficiency [OR 2.35 (1.28–4.30), P = 0.005)]. There was a relationship between VDR gene FokI polymorphism and the development of GDM. Besides, a possible association exists between genotype CC and C allele and vitamin D deficiency.

Vitamin D Level and Vitamin D Receptor Gene Polymorphism as Predictors to Response to Bronchial Asthma Therapy in Children

Bronchial asthma (BA) is a serious global health problem affecting all age groups. Its prevalence is increasing in many countries, especially among children. Vitamin D deficiency and single nucleotide polymorphisms (SNP) in the gene encoding vitamin D receptor (VDR) have been associated with asthma.The aim was to assess the role of serum 25OHD level and VDR SNP fok1 rs 10735810 as predictors of therapy response in asthmatic children. Patient : 96 subjects were enrolled in the study; classified into (32 children with controlled bronchial asthma, 32 children with uncontrolled bronchial asthma and 32 healthy children). All participants were subjected to serum 25OHD level measurement and Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for VDR gene FokI polymorphism . Results: There was highly statistical significant difference (P< 0.001) between the three studied groups regarding vitamin D levels. While, there was no statistically significant association (P≥0.05) between vitamin D levels and GINA. Regarding VDR FOK1, there was statistically significant difference (P< 0.001) between the asthmatic and healthy control groups regarding the frequency of both Ff and FF genotypes with a p value of (0.027 & 0.002 respectively). there was statistically significant association (P

Artificial Neural Networks Model for Predicting Type 2 Diabetes Mellitus Based on VDR Gene FokI Polymorphism, Lipid Profile and Demographic Data.

Type 2 diabetes mellitus (T2DM) is a multifactorial disease associated with many genetic polymorphisms; among them is the FokI polymorphism in the vitamin D receptor (VDR) gene. In this case-control study, samples from 82 T2DM patients and 82 healthy controls were examined to investigate the association of the FokI polymorphism and lipid profile with T2DM in the Jordanian population. DNA was extracted from blood and genotyped for the FokI polymorphism by polymerase chain reaction (PCR) and DNA sequencing. Lipid profile and fasting blood sugar were also measured. There were significant differences in high-density lipoprotein (HDL) cholesterol and triglyceride levels between T2DM and control samples. Frequencies of the FokI polymorphism (CC, CT and TT) were determined in T2DM and control samples and were not significantly different. Furthermore, there was no significant association between the FokI polymorphism and T2DM or lipid profile. A feed-forward neural network (FNN) was used as a computational platform to predict the persons with diabetes based on the FokI polymorphism, lipid profile, gender and age. The accuracy of prediction reached 88% when all parameters were included, 81% when the FokI polymorphism was excluded, and 72% when lipids were only included. This is the first study investigating the association of the VDR gene FokI polymorphism with T2DM in the Jordanian population, and it showed negative association. Diabetes was predicted with high accuracy based on medical data using an FNN. This highlights the great value of incorporating neural network tools into large medical databases and the ability to predict patient susceptibility to diabetes.

Associations between vitamin D receptor gene polymorphisms and chronic spontaneous urticaria in Chinese Han population.

IntroductionPrevious studies found that vitamin D receptor (VDR) TaqI, BsmI, FokI and ApaI gene polymorphisms are associated with several inflammatory diseases. However, the relationship between VDR gene polymorphisms and chronic spontaneous urticaria (CSU) is not clear.AimThe purpose of our study was to explore the relationship between the polymorphism of VDR and the incidence of chronic spontaneous urticaria in the Chinese Han population. Meanwhile, the vitamin D levels in patients with chronic spontaneous urticaria were also detected and the effects of VDR gene polymorphism on vitamin D levels were detected.Material and methodsThe genotypes of four VDR polymorphisms (TaqI, BsmI, ApaI, and FokI) were studied using allele-specific PCR analysis in 90 CSU patients and 90 healthy controls.ResultsCompared to the control group, the mutant allele (C) of FokI were more common in patients with CSU (57.2% vs. 45%, p = 0.020, odds ratio (OR) = 0.612, 95% confidence interval (CI): 0.403–0.928). We found that serum vitamin D levels were significantly lower in CSU patients than in healthy controls (p = 0.023). However, the effect of VDR gene polymorphism on vitamin D levels was not found in patients of CSU.ConclusionsWe first reported the effect of VDR gene FokI (rs2228570) polymorphism on the incidence of chronic spontaneous urticaria in the Chinese Han population.

Association between VDR gene FokI polymorphism and renal function in patients with IgA nephropathy.

BackgroundStudies have shown that the occurrence and development of IgA nephropathy (IgAN) are genetically susceptible, but the relationship between vitamin D receptor (VDR) gene polymorphisms and renal function in IgAN patients is unclear.MethodsWe investigated the relationship between VDR FokI (rs2228570) single nucleotide polymorphism (SNP) and renal function and related clinicopathologic parameters in IgAN patients. Clinical and pathological data of 282 IgAN patients treated at the First Affiliated Hospital of Guangxi Medical University were collected, and FokI genotypes were determined by PCR and direct sequencing. Patients were divided into the renal dysfunction group and normal renal function (control) group by estimated glomerular filtration rate (eGFR) and serum creatinine level.ResultsFrequencies of TT genotype and T allele in the renal dysfunction group were higher than those of the control group. Blood urea nitrogen, serum phosphorus (P), proportions of mesangial cell proliferation, interstitial fibrosis/tubular atrophy and crescents in T allele carriers were higher than those in non-T allele carriers, while eGFR and 25-Hydroxyvitamin D3 were lower in T allele carriers than non-T allele carriers. Multiple linear regression analysis showed that eGFR was affected by FokI genotypes in IgAN patients. Logistics regression analysis showed that middle and elderly age, elevated P, intact parathyroid hormone and TT genotype were independent risk factors for renal dysfunction in IgAN patients; the odds ratio of carrying the TT genotype was as high as 84.77 (P < 0.05 for all).ConclusionsIgA nephropathy patients carrying the VDR FokI TT genotype have an increased risk of renal dysfunction. VDR FokI SNP is closely related to renal function, calcium-phosphate metabolism, and related pathological damage in IgAN patients.

The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women

BackgroundThe association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (rs15444410), ApaI (rs7975232), FokI (rs19735810), and TaqI (rs731236) single nucleotide polymorphisms (SNPs) and GDM.Material-methodsThis case-control study comprised 100 women with GDM and 135 pregnant women without GDM. The VDR polymorphism was evaluated using Sanger-based DNA sequencing.ResultVDR gene ApaI, BsmI, and TaqI SNPs did not differ between women with and without GDM (each, p > 0.05). ApaI, BsmI, and TaqI were not associated with GDM risk. The VDR gene FokI CT/TT genotype was associated with an increased GDM risk (CT vs. CC, OR = 1.84, 95% CI: [1.05–3.23], p = 0.031; TT vs. CC, OR = 3.95, 95% CI: [1.56–9.96], p = 0.002; CT/TT vs. CC, OR = 2.29, 95% CI: [1.35–3.89], p = 0.002; and CT/CC vs. TT, OR = 3.02, 95% CI: [1.23–7.38], p = 0.012). The FokI-TT genotype was more associated with younger age and higher glucose, HbA1c, and HOMA-IR than the CC and CT genotype. FokI-T was positively correlated with log-HOMA-IR (r = 0.326, p = 0.004). FokI SNPs were independently associated with GDM after adjusting for BMI and age (β = 1.63, 95% CI: [1. 2-4.2], p = 0.012). There were no associations between the FokI, ApaI, BsmI and TaqI haplotypes and GDM.ConclusionVDR gene FokI SNPs were independently associated with having GDM in Turkish women. VDR gene FokI SNPs might contribute to insulin resistance of developing GDM.

Association of vitamin D receptor gene FokI polymorphism and serum vitamin D level in Egyptian patients with obstructive sleep apnea

Objective No published studies have analyzed the possible link between vitamin D receptor (VDR) gene FokI polymorphism and obstructive sleep apnea (OSA). To better highlight this knowledge gap, we conducted this study to assess the linkage between VDR gene FokI polymorphism with OSA as a main objective and to assess the vitamin D (VD) level in patients with OSA, with stress on its severity subtypes. Patients and method A total of 240 patients with OSA and 120 matched controls were enrolled. All participants were subjected to full history taking, particularly sleep-disordered breathing symptoms, Epworth Sleepiness Scale assessment, measurement of serum VD, and assessment of FokI VDR gene polymorphism. Results OSA had a lower VD than controls (21.44±5.56 vs. 35.63±8.5, P Conclusion This work introduces for the first time a possible association between VDR gene FokI polymorphism and Egyptian population with OSA. Lower VD was significantly observed in OSA and correlates with disease severity.

Association of FokI, TaqI, BsmI and ApaI polymorphisms with diabetic retinopathy: a pooled analysis of case-control studies

To assess synthetically the association between polymorphisms in the vitamin D receptor (VDR) gene (FokI, BsmI, ApaI, and TaqI) and diabetic retinopathy (DR). Pubmed, Embase, ISI Web of Science, Google-scholar and CBMDisc, CNKI and Chongqing VIP databases were searched. A meta-analysis was performed. Six studies with 636 cases and 1,035 controls were included in this meta-analysis. The outcomes showed that the FokI polymorphism (F allele) of VDR gene had no statistical protective relationship with DR in overall studies. Interestingly, stratification analysis showed that the FokI polymorphism (Fallele) was significantly associated with decreased DR risk in the Chinese population, among included studies without publication bias, during a comparison analysis between normal subjects and DR patients, and among articles published after 2010. However, the TaqI, BsmI and ApaI polymorphisms of VDR gene had no significant association with the risk of DR. This meta-analysis of case-control studies revealed that the VDR-FokI polymorphism (F allele) decreased the risk of DR in Chinese people, among included studies without publication bias, during a comparison analysis between normal subjects and DR patients, and among articles published after 2010. Further rigorous and prospective studies with large sample size are needed to confirm our findings.

VDR gene FokI polymorphism as a poor prognostic factor for papillary thyroid cancer.

This is the first study to investigate the effect of vitamin D receptor ( VDR) gene single-nucleotide polymorphisms on the clinicopathologic features of papillary thyroid cancer in Turkey. A total of 165 patients with papillary thyroid cancer and 172 controls were included in this case-control study. VDR gene single-nucleotide polymorphisms FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) were evaluated using reverse-transcription polymerase chain reaction. VDR gene polymorphisms BsmI, ApaI, and TaqI did not differ between the papillary thyroid cancer group and control group (p > 0.05, each). BsmI, ApaI, and TaqI were not associated with papillary thyroid cancer risk. The VDR gene FokI CT/TT genotype was associated with an increased papillary thyroid cancer risk (CT vs CC: odds ratio = 1.71, 95% confidence interval = 1.15-2.76, p = 0.028; TT vs CC: odds ratio = 2.44, 95% confidence interval = 1.29-4.62, p = 0.005; CT/TT vs CC: odds ratio = 1.88, 95% confidence interval = 1.20-2.96, p = 0.006; CT/CC vs TT: odds ratio = 1.80, 95% confidence interval = 1.05-3.20, p = 0.041). VDR gene polymorphisms were not in linkage disequilibrium. The FokI TT genotype was associated with having T3 and T4, stage III/IV, extra-thyroidal invasion. The FokI CT/TT or TT genotype was associated with developing N1 status, multifocality, tumor size ≥10 mm, and treatment with radioiodine therapy. Persistence/recurrence did not differ between the FokI genotypes. Carriers of the FokI T allele were at an increased risk of more advanced tumor-node-metastasis stage, greater tumor size, multifocality, and extra-thyroidal invasion of papillary thyroid cancer compared with the CC genotype. VDR gene FokI T allele and TT genotype correlated with aggressiveness of papillary thyroid cancer; thus, FokI could be useful as a poor prognostic factor to assess the high risk of papillary thyroid cancer.

Pseudoexfoliative glaucoma and molecular genetic characteristics of vitamin D metabolism

Purpose. To study the possible association of 25-hydroxyvitamin D level, and vitamin D receptor (VDR) gene polymorphisms (BsmI, ApaI, TaqI, FokI) with pseudoexfoliative glaucoma (PEG) clinical manifestations.&#x0D; Methods. We examined 160 subjects (72 males (45%), and 88 females (55%)) aged from 55 to 75 years, residents of St. Petersburg and Leningrad region. 122 patients with PEG were enrolled in the main study group, the control group comprised 38 subjects without PEG, primary open angle glaucoma (POUG) and pseudoexfoliation syndrome (PES). 25(OH)D serum levels were assessed by chemiluminescent immunoassay (CLIA) method. Detection of VDR gene allele polymorphisms (ApaI, BsmI, FokI, and TaqI) was carried out using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique.&#x0D; Results. Patients with PEG had lower 25(OH)D serum levels compared to patients in the control group (39.3 1.2 and 52.7 2.1 nMol/l, respectively, p 0.01). The prevalence of vitamin D deficiency was found to be higher among PEG patients than among healthy subjects (86.4% and 59.5%, respectively, p 0.01). The prevalence of b allele (p 0.001) and bb genotype (p 0.001) (BsmI polymorphism), as well as of f allele and ff genotype (p 0.05) (FokI polymorphism) in PEG patients were higher compared to healthy subjects. We found that the Fallele carriers (FokI polymorphism) had greater corneal thickness than the ff genotype carriers (547.3 4.1 m and 502.1 25.8 m, respectively, p 0.01). It was revealed, that bb genotype, Bb genotype (BsmI polymorphism), and ff genotype (FokI polymorphism) were associated with the increased risk of PEG (OR = 8.2, CI 95%: 3.4-19.9; OR = 3.9, CI 95%: 1.7-9.0; OR = 2.3, CI 95%: 1.2-4.5, respectively).&#x0D; Conclusions. Results of this study for the first time ever showed the association between BsmI and FokI VDR gene polymorphisms and pseudoexfoliative glaucoma.

Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis.

The incidence of urinary tract stones in infancy has been increasing in Turkey. Risk factors and vitamin D receptor (VDR) gene polymorphisms were investigated in infants aged<1year who had stones. Forty infants with urinary tract stones and 80 infants without stones, aged<1year were enrolled in this study. Detailed surveys were taken of all infants, metabolic parameters and ApaI and FokI VDR gene polymorphisms were investigated. Infants with stones tended to be more commonly fed formula and multivitamins (vitamins A, C, D) (p<0.05). Positive family history came into prominence in the stony group (p<0.05). There were no significant differences in ApaI and FokI VDR gene polymorphisms between the groups with stones and the control groups. However, CA genotype of ApaI polymorphism was associated with family history and C allele of ApaI was related with family history and hypercalciuria (p<0.05). Hypercalciuria emerged as an underlying metabolic abnormality in the etiology of stones, and was observed at a rate of 38%. Infants who are given formula and multivitamins for vitamin D supplementation are at increased risk for the formation of urinary tract stones. VDR gene polymorphisms cause the formation of urinary tract stones and affect calcium (Ca) metabolism.

Association of Vitamin D Receptor (FokI and BsmI) Gene Polymorphism with Bone Mineral Density and Their Effect on 25-Hydroxyvitamin D Level in North Indian Postmenopausal Women with Osteoporosis.

Osteoporosis is a systemic disease with a strong genetic component. Vitamin D receptor (VDR) has been suggested as a candidate gene for osteoporosis. Therefore the present study was aimed to investigate the pattern of allelic variants of VDR gene polymorphism (FokI and BsmI), its influence on vitamin D levels and bone mineral density (BMD) in North Indian postmenopausal women with osteoporosis for possible genetic association. 254 postmenopausal osteoporotic women and 254 postmenopausal non osteoporotic women were included in the study. VDR FokI and BsmI gene polymorphism gene were assessed by the PCR-RFLP method. Serum 25-hydroxyvitamin D was measured by the ELISA. BMD at the L1-L4 lumbar spine, hip, forearm and femoral neck was assessed by dual energy X-ray absorptiometry. The average BMD at spine and hip in postmenopausal women with bb and spine, hip, femoral neck and forearm with ff genotype had significantly low BMD. The frequency of ff genotype and f allele was significantly higher in postmenopausal osteoporotic women when compared with postmenopausal non osteoporotic women. However, no significant association was found between the genotypes and vitamin D levels. Our study reveals that VDR gene FokI and BsmI polymorphism is significantly associated with low bone mineral density. Therefore the ff genotype and f allele of VDR FokI gene may be used as an important risk factor for osteoporosis.

VITAMIN D RECEPTOR (VDR) GENE POLYMORPHISM AND MATERNAL VITAMIN D DEFICIENCY IN INDIAN WOMEN WITH PRETERM BIRTH (PTB)

Objective: Preterm birth (PTB) is the leading cause of high infant mortality and long-term disability in young children worldwide. Array of adverse maternal and fetal outcomes linked with vitamin D level and its associated vitamin D receptor (VDR) gene. We undertook this study to investigate the association between VDR gene polymorphism with vitamin D deficiency and PTB in West Indian pregnant women.Methods: A total of 72 women with PTB and 138 healthy mothers with uncomplicated normal delivery were selected from different regions of Gujarat, India. FokI and TaqI single nucleotide polymorphism (SNP) of VDR gene determined by polymerase chain reaction and restriction fragment length polymorphism. Vitamin D level was determined using enzyme-linked immunosorbent assay.Result: ff genotype (29.17% vs. 10.87%, p=0.002) and f allele (49.31% vs. 35.51%, p=0.006) frequency distributions of VDR FokI showed significantly (odds ratio=0.566, 95% confidence interval=0.368-0.870, p=0.006) higher in women with preterm delivery than in control full term group. Genotype frequency of VDR TaqI showed no significant difference between preterm group and control.Conclusion: These results confirmed that women carrying ff genotype of FokI gene had significantly higher risk for vitamin D deficiency which enhances the risk of prematurity than women carrying FF genotype in West Indian women.

Vitamin D receptor gene FokI polymorphism in Egyptian children and adolescents with SLE: A case-control study.

Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism. Methods This was a case-control study, which included 300 patients with cSLE and 300 age, sex, and ethnicity-matched healthy controls. All participants were genotyped for the VDR gene FokI (rs2228570) polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while the serum [25(OH) D] levels were measured by enzyme-linked immunosorbent assay (ELISA). Results The VDR FokI FF genotype and F allele were overrepresented among cSLE patients compared with the controls, [odds ratio (OR) = 2.7; 95% confidence interval (CI): 1.6-4.4 for the FF genotype; p = 0.000; and OR = 1.6; 95% CI: 1.27-2.05 for the F allele; p = 0.000, respectively]. We found a significant association between VDR FokI FF genotype with lupus nephritis (OR: 4.8; 95% CI: 2.2-10.6; p = 0.002); and high disease activity index score ( p = 0.01). Conclusions The FokI polymorphism in the VDR gene may contribute to susceptibility to SLE in Egyptian children and adolescents. Moreover, the FF genotype constituted a risk factor for the development of lupus nephritis and was associated with low serum [25(OH) D] levels as well as higher disease activity index score among studied patients with cSLE.

Clinical significance of vitamin D deficiency and receptor gene polymorphism in systemic lupus erythematosus patients

IntroductionThe vitamin D receptor (VDR) gene is a candidate for susceptibility to autoimmune disorders. Aim of the workTo study the frequency of vitamin D deficiency in Egyptian systemic lupus erythematosus (SLE) patients and investigate the association of BsmI and FokI VDR gene polymorphisms with disease susceptibility, activity and damage. Patients and methodsForty-five SLE patients and 40 controls were enrolled. SLE Disease Activity Index (SLEDAI) and Systemic Lupus International Collaborating Clinics (SLICC) damage index were assessed for the patients. Serum vitamin D levels were measured in all subjects. Genotyping for the VDR BsmI and FokI gene polymorphisms was performed by polymerase chain reaction and restriction fragment length polymorphism for only 34 patients and 16 controls. ResultsThe mean age of SLE patients was 28.8±7.9years and disease duration 11.3±9.8years. Vitamin D level was significantly lower in patients than control (p<0.001) and significantly correlated with C3 and C4 levels (p<0.001) and inversely with SLEDAI (p<0.001), SLICC (p=0.005), anti-ds DNA (p<0.001) and ESR (p=0.011). There were no significant differences in genotype and allelic frequencies of FokI and BsmI polymorphisms between patients and controls. There was a significant relation of FokI polymorphisms with serum vitamin D level (p=0.002), SLEDAI (p=0.021) and SLICC (p=0.002). BsmI polymorphisms showed significant associations with neuropsychiatric damage, low complement, fever and mucosal ulcers. ConclusionsVDR FokI polymorphism in SLE patients is significantly related to low vitamin D level in SLE patients and both are associated with increasing disease activity and damage denoting important implications in this disease.

Vitamin D receptor gene FokI variant in diabetic foot ulcer and its relation with oxidative stress

PurposeThe patient's suffering and financial costs affiliated with Diabetic Foot Ulcer (DFU), as one of the most important complications of diabetes, are highly undesirable and this highlights the importance of preventive medicine about this disorder. Furthermore hyperglycemia causes generation of free radicals which leads to oxidative stress (OS). Hence, this study aims to examine the association between vitamin D receptor (VDR) gene FokI polymorphism and DFU in Iranian population and also its correlation with OS biomarkers. Materials and methodsIn a case-control study, a total of 212 patients with type 2 diabetes with and without diabetic foot ulcer were included. Genotyping was conducted by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Samples were analyzed for thiobarbituric reactive substances (TBARS) and ferric reducing ability of plasma (FRAP) as markers of OS. ResultsThe results indicated a significant difference in genotype frequencies of VDR gene FokI polymorphism in patients with diabetic foot ulcer in comparison to those without diabetic foot ulcer (TT+TC vs. CC p=0.04; OR=1.76; 95% CI=1.02–3.05). Moreover, the patients carrying the T allele had a significantly higher level of TBARS (p=0.01). ConclusionsWe found a significant association between FokI functional variant of VDR gene and diabetic foot ulcer in an Iranian population. Increased levels of TBARS in patients carrying the T allele of FokI polymorphism indicate an association between this variant and OS in patients with diabetes.