Receptor Gene FokI Polymorphism Research Articles

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

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

Interaction between Fokl polymorphism and vitamin D deficiency in the symptoms of mental disorders in adults: a population-based study

Mental disorders are intricate and multifaceted and encompass social, economic, environmental, and biological factors. This study aimed to explore the potential association between vitamin D deficiency and anxiety and depression symptoms in adults, considering the role of the vitamin D receptor gene polymorphism FokI (rs2228570). This was a population-based cross-sectional study with stratified and cluster sampling, evaluating anxiety symptoms (AS) and depression symptoms (DS) in 1637 adults. Vitamin D levels were measured using electrochemiluminescence and were considered deficient when < 20 ng/mL in a healthy population or < 30 ng/mL in at-risk groups. Genotyping was performed using real-time polymerase chain reaction with TaqMan probes. The prevalence rates of AS, DS, and vitamin D deficiency were 23.5%, 15.8%, and 30.9%, respectively. No direct association was observed between vitamin D deficiency and AS or DS. However, interaction analysis revealed a combined effect of vitamin D deficiency and FokI for DS but not for AS. Individuals with vitamin deficiency and one or two copies of the altered allele of the FokI exhibited a higher prevalence of DS than individuals homozygous for the wild-type allele and vitamin D sufficiency. The interaction between vitamin D deficiency and the FokI polymorphism was associated with DS.

Interaction of Vitamin D Receptor Gene FokI Variants and Omega-3 Fatty Acids on Perceived Stress Score and Serum Cortisol Levels in Nurses: A Cross-Sectional Study

Background: There is a high prevalence of perceived stress among nurses. Recent studies have shown that omega-3 fatty acids and genetic variants contribute to perceived stress. This study aimed to examine interactions between vitamin D receptor (VDR) gene FokI polymorphism and omega-3 fatty acids on perceived stress score and serum cortisol levels in nurses. Methods: A total of 268 Iranian nurses (248 women; 20 men) participated in this cross-sectional study. Omega-3 fatty acids and perceived stress score of participants were evaluated using a 3-day food record and the Perceived Stress Scale (PSS)-10, respectively. Serum cortisol concentrations were evaluated by ELISA. VDR FokI polymorphism was genotyped using the restriction fragment length polymorphism method. Results: No significant relationship was found between omega-3 fatty acids with perceived stress score or cortisol level in FF genotype carriers, but lower intake of PUFA was related to higher cortisol level (P=0.04) in Ff carriers. Significant interactions were observed between VDR FOKI polymorphism and intakes of eicosapentaenoic acid (EPA) (P Interaction=0.06), linoleic acid (P Interaction=0.06), and docosahexaenoic acid (DHA) (P Interaction=0.06) on serum cortisol, so that lower intake of EPA, linoleic acid, and DHA was associated with an increase in cortisol levels in individuals with ff genotype. Moreover, in carriers of ff genotype, lower intake of EPA was related to the elevated perceived stress score (P Interaction=0.06). Conclusion: FokI polymorphism interacts with omega-3 fatty acids (EPA, linoleic acid, and DHA) to increase cortisol level and with EPA to increase perceived stress score in nurses.

FokI polymorphism in the vitamin D receptor gene in patients with hip osteoarthritis: A case-control study.

This study aimed to examine whether there is an association between hip osteoarthritis and vitamin D receptor gene FokI polymorphisms. In this case-control study, a total of 162 volunteers (43 males, 119 females; mean age: 62.4±9.3; range, 50 to 80 years) were included between March 2011 and March 2012. The patient group included 80 individuals with a diagnosis of coxarthrosis. Eighty-two individuals with normal hip, low back, and sacroiliac joint examination were included in the control group. The American College of Rheumatology hip osteoarthritis classification criteria were used in the diagnosis of coxarthrosis. Analysis of FokI polymorphisms was performed with restriction fragment length polymorphisms. When the genotype and allele distributions of vitamin D receptor FokI polymorphisms were examined, no statistical difference was found in both groups. No significant association between the hip osteoarthritis and FokI polymorphisms could be obtained.

Vitamin D Receptor FokI Gene Polymorphism in Rheumatoid Arthritis Patients

Background: Rheumatoid arthritis (RA) is a chronic, systemic, destructive joint disease. Vitamin D initiates biological responses via binding to the vitamin D receptor (VDR), which is a member of the steroid hormone receptor superfamily located on chromosome 12 (12q12-q14) that regulates gene expression in a ligand-dependent manner. The receptor (VDR) is active in almost all tissues that are necessary for the effects of vitamin D. Objective: The present work aimed to detect vitamin D receptor FokI gene polymorphism in rheumatoid arthritis patients, to assess its role as a risk factor of the disease. Patients and Methods: A case-control study was conducted on 44 subjects (22 RA patients and 22 apparently normal volunteers age and sex-matched with patients) at the Clinical Pathology, Rheumatology and Rehabilitation Departments, Faculty of Medicine, Zagazig University. Results: Serum vitamin D level was found to be significantly lower among RA patients compared to healthy controls. There was a significant difference between the studied groups regarding VDR FOK1 gene polymorphism and its alleles. There was a non-significant difference between the different genotypes regarding age, however, the difference between them was significant regarding sex as it was noticed that FF and ff homozygous genotypes were found only in females compared to their male counterparts while Ff heterozygous genotype was found equally among both males and females. Conclusion: Vitamin D receptor gene FokI polymorphism could be considered as genetic risk markers of RA susceptibility, associated with vitamin D level deficiency which was found to be significantly lower among FF genotype compared to other genotypes. Having FF and Ff genotypes have almost a higher risk than having ff genotype to be RA patient.

Relationship between vitamin D receptor gene FokI polymorphism and 25-hydroxyvitamin D levels in apparently healthy Syrians

The vitamin D receptor (VDR) protein has an essential function in regulating serum calcium and 1, 25 dihydroxy vitamin D3. Therefore, variations in VDR gene play an essential role in vitamin D levels.This study aimed to detect the distribution of FokI polymorphism in healthy Syrians and its relation to 25-OH-vitamin D levels.The study included 197 unrelated healthy individuals (Female:131 and Male:66) divided into four groups according to their vitamin D levels: no hypovitaminosis D(G1), vitamin D insufficiency(G2), vitamin D deficiency (G3), and severe vitamin D deficiency (G4). Genotyping for the FokI single nucleotide polymorphism was performed by PCR followed by restriction fragment length polymorphism analysis (RFLP).Frequencies of FF, Ff and ff genotypes were 32.4%, 50% and 17.6%, in G1, 19.6%, 60.8% and 19.6% in G2, 52.1%, 37.5% and 10.4% in G3, and 58%, 37.7% and 4.3% in G4 respectively, with significant differences between the four groups.In conclusion, this study showed a strong correlation between 25-OH-vitamin D levels and FokI polymorphism of the VDR gene in apparently healthy Syrians.

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 Receptor Gene Polymorphisms FokI rs2228570, ApaI rs797523, and TaqI rs731236 in Multibacillary Leprosy Patients

AIM:: Knowing distribution frequency of genotype and allele Vitamin D receptor (VDR) gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236 in leprosy patients. METHODS: This is an observational research that was done in Leprosy Division, Department of Dermatology and Venereology, Haji Adam Malik General Hospital, Dr. Pirngadi General Hospital in Medan, and other primary healthcare facilities in North Sumatera. The research subjects underwent an interview process, physical examination and blood collection to detect VDR gene polymorphism FokI rs2228570, ApaI rs797523, and TaqI rs731236. The data were then tabulated and analyzed, also calculated using Hardy-Weinberg equilibrium. RESULTS: This study involved 52 leprosy patients, with most of them aged between 35 and 44 years (38.5%), male (61.5%) more than female (38.5%). The research subjects have VDR gene polymorphisms FokI rs2228570 with genotype FF (42.3%) with F allele (59.6%), ApaI rs797523 genotype AA (46.1%) with A allele (65.4%) and TaqI rs731236 genotype TT (86.5%) with T allele (93.3%). CONCLUSION: Most of the leprosy patients have genotype FF with F allele, genotype AA with A allele and TT with T allele. Further research can be done to assess the relationship between the VDR gene polymorphism and leprosy risk.

Association between Vitamin D Receptor Gene Foki Polymorphism and Gestational Diabetes Mellitus among Iraqi Pregnant Women

This study was conducted to evaluate the association between vitamin D receptor gene FokI polymorphismand gestational diabetes Mellitus (GDM) among Iraqi pregnant women.This study included 40 women with GDM, 30 pregnant women without GDM, and 30 non-pregnant womenas a negative control. Age (years), body mass index (BMI), Fasting Blood Glucose (FBG), total cholesterol,triglycerides (TG), and lipid profile of the patients and control groups were compared (Table 1). DNAsampling was purified and amplified by using PCR. The FokI genotype was evaluated using restrictionfragment length polymorphism (RFLP).The results revealed that the age, BMI, FBG, HbAIc, insulin hormone, insulin resistance, and lipid profileexcept HDL-C were significantly increased with an increased GDM risk compared to women with normalpregnancies. In contrast, no significant alterations were observed in concentrations of IGF1 hormone,vitamin D and FokI (F and f) alleles frequency between GDM and control groups.This study suggests that there was no significant correlation between the VDR FokI polymorphism andGDM patients among Iraqi pregnant women.

Association of Vitamin D Receptor Gene (FokI) (rs2228750) Polymorphism with Susceptibility to Tuberculosis

Background: Genetic susceptibility has been suggested as an important explanation for individual risk for tuberculosis. The association between vitamin D receptor (VDR) FokI gene polymorphisms and the risk of tuberculosis have been studied in several populations; but results were inconsistent. Objectives: This study aimed to determine the influence of vitamin D status and frequency of association of VDR FokI (rs2228570) polymorphism on susceptibility to pulmonary tuberculosis. Methodology: A case-control study was conducted between 40 pulmonary tuberculosis patients and 40 control subjects. Serum vitamin D level and VDR FokI gene (rs2228570) polymorphism were tested. Results: Tuberculosis patients had significant lower vitamin D level compared to controls (P = 0.002). Patients showed significantly higher frequencies of VDR FokI (rs2228750) Ff, ff genotypes and f allele than controls (P = 0.023, 0.014, &lt;0.001 respectively) with significant lower vitamin D level in patients with ff compared to patients with FF or Ff genotypes (P = 0.017). Excess smoking, vitamin D insufficiency and VDR FokI (rs2228750) (Ff+ff) genotypes were found predictors for susceptibility to tuberculosis infection. Conclusion: vitamin D deficiency plays a role as a risk factor for tuberculosis and VDR FokI (rs2228750) polymorphism may be partially responsible for host susceptibility to human tuberculosis in Egyptians.

Vitamin D Receptor Gene Polymorphism FokI and 25-Hydroxy Vitamin D Levels among Indonesian Diabetic Foot Patients

BACKGROUND: Vitamin D and VDRs FokI has been reported to be strongly associated with type 2 diabetes mellitus (T2DM) through controlling inflammation of endothelial cells in diabetic foot cases. &#x0D; AIM: This study aimed to detect Vitamin D receptor FokI polymorphisms and to determine the Vitamin D levels among diabetic foot patients in sunlight-rich areas. &#x0D; MATERIALS AND METHODS: A cross sectional study was conducted among diabetic foot patients who were treated as T2DM, from November 2016 to June 2018 in Padang city, Indonesia. There are an inclusion and exclusion criteria listed below. A questionnaire for symptoms-based screening, ankle brachial index (ABI) examination, fasting glucose, and HbA1c were measured. Electroimmunoassay (ECLIA) was used to determine Vitamin D levels as sufficiency, insufficiency, and deficiency. Polymerase chain reaction assay was addressed for VDR FokI genetic polymorphisms. Data were analyzed to evaluate the differences of explanatory variables (age, gender, duration of T2DM, fasting blood sugar, body mass index [BMI], HbA1c, and Vitamin D levels) across different genotypes of VDR FokI for three groups based on the absent T allele (ff: wild type homozygous, Ff: mutant heterozygous, and FF: mutant homozygous). &#x0D; RESULTS: Among 36 eligible subjects, 52.8% were females, 61.1% were &lt;50 years old, 63.9% had normal BMI, and 86.1% had normal ABI. Vitamin D deficiency, insufficiency, and sufficiency were shown in 19.4%, 33.3%, and 47.2% of the subjects, respectively. The majority of VDR FokI gene polymorphisms were mutant heterozygous Ff (44.4%), wild type homozygous ff (13.9%), and mutant homozygous FF (41.7%). Results of one-way ANOVA showed that there were no differences of BMI, ABI, fasting blood glucose, Vitamin D levels, and Hb1AC status with the VDR FokI gene polymorphisms. Based on Vitamin D levels, most of the Vitamin D deficiency subjects had 31.2% VDR FokI Ff allele, 13.3% had FF allele, and none of them had ff allele. &#x0D; CONCLUSION: This study concluded that most of the individuals with diabetic foot in a sunlight-rich area tended to have mutant VDR FokI polymorphisms and Vitamin D insufficiency.

Association Between FokI Polymorphism of Vitamin D Receptor Gene and Lumbar Spine Disc Degeneration: A Systematic Review and Meta-Analysis.

The aim of the present meta-analysis was to explore the association between FokI polymorphism of the vitamin D receptor gene and lumbar spine disc degeneration. The search was performed in PubMed, Scopus, and Web of Science databases up to January 2020. The authors selected nine studies comprising a total of 1549 cases and 1672 controls. The association analysis included the allelic, dominant, recessive, homozygous, and heterozygous genetic models. Odds ratios with 95% confidence intervals were used to evaluate the association. The Newcastle-Ottawa Scale was used to measure the quality of the studies included in the analyses; a cut-off of 6 stars was applied. This meta-analysis indicated that FokI polymorphism is significantly associated with lumbar degenerative disc disorder and disc herniation in the homozygous (odds ratio, 1.77; 95% confidence interval, 1.23-2.54; Z test P = 0.002, Q test P = 0.416) and recessive (odds ratio, 1.53; 95% confidence interval, 1.23-1.90; Z test P < 0.000, Q test P = 0.224) models. This study indicates that the vitamin D receptor gene FokI polymorphism may be correlated with the risk of developing a lumbar degenerative disc disorder and disc herniation. However, the small sample population studied and the lack of an evaluation of environmental factors must be taken as limitations in the present meta-analysis.

Relationship between vitamin D receptor gene polymorphism FokI and fetuin A as marker of vascular calcification in Egyptian hemodialysis patients

Background: Vascular calcification is a common complication in end-stage renal disease patients and the leading cause of morbidity and mortality. Aim of the work: The current work aimed to evaluate the possible relationship between vitamin D receptor gene polymorphism FokI with fetuin-A and intact parathormone hormone in Egyptian hemodialysis patients. Patient and Methods: This study is a cross-sectional study including 50 hemodialysis patients attending the hemodialysis unit in Al-Zahra University Hospital and 30 apparently healthy persons as a control group. For all studied subjects, a detailed history was taken, physical examination, carotid intima-media thickness by carotid duplex, echocardiography, Laboratory investigations included serum levels of calcium, phosphorus, iPTH, fetuin, and genotype frequency by PCR Results: There was a highly significant increase in carotid intimal media thickness in the patient group Vs. control group & a highly significant decrease in serum Fetuin-A in the patient's group Vs. control group. There was a significant difference in the genotype distribution of FokI polymorphism among patients and control. There were significant negative relationships between FF genotype and iPTH and a highly significant negative correlation between serum fetuin-A and iPTH in the patient group. Conclusion: Vitamin D receptor gene FokI polymorphism FF genotyping is more frequent in hemodialysis patients who have higher iPTH and lower fetuin-A levels, which could identify the high-risk group susceptible to vascular calcification in hemodialysis patients. Further studies are needed.

The association between vitamin D receptor FokI gene polymorphism and osteoporosis in postmenopausal women: a meta-analysis

Objective This study aimed to quantitatively summarize the evidence for vitamin D receptor (VDR) FokI gene polymorphism and osteoporosis risk in Caucasian and Asian postmenopausal women. Materials and methods The PubMed, EMBASE, Weipu, CNKI, and Wanfang databases were searched for eligible studies. Case–control studies containing available genotype frequencies for F/f were chosen, and the odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of this association. Results In total, 3349 osteoporosis cases and 3202 controls were identified in our meta-analysis. In the stratified analysis, a significant association was observed between VDR FokI gene polymorphism and postmenopausal osteoporosis susceptibility in Asian subjects (additive model: OR = 1.529, 95% CI 1.053–2.219, p = 0.026; dominant model: OR 2.711, 95% CI 1.693–4.342 p < 0.001; co-dominant model: ff vs. FF, OR 2.796, 95% CI 1.439–5.433 p = 0.002), and we failed to find any significant relationship in Caucasian populations. Conclusion The present meta-analysis suggests that the VDR FokI genotype is associated with increased risk of osteoporosis in Asian women but not in Caucasian women. To draw comprehensive and true conclusions, further prospective studies with larger numbers of participants worldwide are needed to examine associations between VDR FokI polymorphism and osteoporosis.

Vitamin D receptor (VDR) gene FokI, BsmI, ApaI, and TaqI polymorphisms and osteoporosis risk: a meta-analysis

BackgroundOsteoporosis is a disease of the bones in which the density of the bones decreases. The prevalence of this disease greatly varies in different populations of the world. Numerous studies have been investigated VDR gene polymorphisms as osteoporosis risk in different ethnic groups. In present meta-analysis, the aim is to find out the role of VDR gene polymorphisms (FokI, BsmI, ApaI, and TaqI) in osteoporosis risk.MethodsSuitable case-control studies for present meta-analysis were retrieved from four electronic databases. Open Meta-Analyst program was used for statistical analyses.ResultsStudies investigated BsmI (65 studies; 6880 cases/8049 controls), ApaI (31 studies; 3763 cases/3934 controls), FokI (18 studies; 1895 cases/1722 controls), and TaqI (26 studies; 2458 cases/2895 controls) polymorphisms that were included in the present meta-analysis. A significant association was found between the dominant model of FokI (ORff + Ffvs.FF = 1.19, 95% CI = 1.04–1.36, p = 0.01, I2 = 39.36%) in the overall analysis and recessive model of the Caucasian population of TaqI polymorphism (ORTT + Ttvs.tt = 1.35, 95% CI = 1.11–1.63, p = 0.002, I2 = 50.07%) with osteoporosis. On the other hand, no such effect is found in any other genetic models and in any other gene polymorphisms of the overall analyses or sub-group analyses.ConclusionIn conclusion, the authors found that the dominant model of FokI in the overall analysis and recessive model of TaqI in the Caucasian population are significantly associated with the development of osteoporosis.

Influence of vitamin D receptor gene FokI and ApaI polymorphisms on glucocorticoid response in patients with asthma.

Glucocorticoid (GC)-resistant asthma, a complex disease phenotype, has a high morbidity and mortality and takes up a disproportionate share of healthcare costs. The aim of this work was to assess serum 25-hydroxyvitamin D (25(OH)VD) levels in steroid-resistant, steroid-sensitive patients with asthma and in healthy controls, and to investigate the association between the vitamin D receptor gene (VDR) FokI and ApaI polymorphisms and GC resistance in patients with asthma. This case-control study included 70 patients with severe bronchial asthma and 30 apparently healthy controls. Atopic status was determined by skin-prick test reaction to the most common locally-encountered allergens. A GC reversibility test was performed to differentiate between GC-sensitive and GC-resistant asthma. For all subjects, analysis of the VDR FokI and ApaI polymorphisms by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and measurement of serum 25(OH)VD levels by enzyme-linked immunosorbent assay (ELISA) were performed. The frequencies of FokI polymorphism genotypes and alleles differed significantly between patients with asthma and controls. The frequencies of the TT genotype and T allele carriers were significantly higher among patients with asthma than among controls, and also among GC-resistant patients with asthma than among GC-sensitive patients with asthma. Additionally, serum 25(OH)VD levels differed significantly among the 3 VDR FokI polymorphic genotypes in GC-resistant patients with asthma; the highest level was detected in the TT genotype. No significant differences in ApaI were found. We found a possible association between the FokI T allele and GC resistance in patients with asthma. Variations in VDR FokI might also play a role in 25(OH)VD levels.

Association of vitamin D level and vitamin D receptor gene FokI polymorphisms in pregnant women with fetal growth restriction

Serum vitamin D level and vitamin D receptor (VDR) gene FokI polymorphisms were detected in 200 single full-term pregnant women who gave birth in our hospital during 2016 to 2018. The newborns with birth weight 30 nmol/L carrying F allele (FF+Ff) were set as reference, the risk of FGR in pregnant women with serum 25(OH)D level ≤ 30 nmol/L carrying ff genotype was increased (OR=6.14, 95%CI: 2.13-13.23). The polymorphism of VDR gene FokI may be associated with the occurrence of FGR. In the case of vitamin D deficiency, the influence of ff genotype on FGR is more tangible. Key words: Fetal growth retardation; Vitamin D; Receptors, vitamin D; Genes

The relation between Vitamin D receptor gene fokI polymorphism and degeneration of the temporomandibular joint

Amaç: Temporomandibular Eklem Düzensizliği (TME-İD) ve eklem osteoartritine (TME-OA) yatkınlık genetik varyasyonlarla ilişkili olabilir. Vitamin D Reseptörü (VDR) gen polimorfizmleri buna adaydırlar. Bu çalışmanın amacı, VDR FokI polimorfizminin temporomandibular eklem dejenerasyonu ile ilişkili olup olmadığını cinsiyete göre değerlendirmekti. Yöntem: 58 osteoartritik TME-İD hastası (32.07.±8.1) ve kontrol olarak 71 TME-İD olmayan birey (28.28±5.95) çalışmaya dahil edildi. Kan örneklerinden DNA izolasyonu standart proteinaz K/fenol-kloroform metodu ile yapıldı. VDR geni FokI polimorfizmi, polimeraz zincir reaksiyonunu (PZR) takiben restriksiyon fragment uzunluk polimorfizmi (RFLP) yöntemi ile araştırıldı. Bulgular: FokI genotip dağılımları (rs2228570, C&amp;gt;T) grupları arasında istatistiksel olarak farklı idi (p=0.026, χ²=7.2). Heterozigot Ff genotipi, FF genotipine göre istatistiksel olarak farklı idi (OR=0.43, %95 GA:0.2-0.92, p=0.028). TME-İD’li kadınlarda heterozigot Ff genotipi FF genotipine göre farklılık sınırında idi (OR=0.43, %95 CI:0.16-1.10, p=0.07). Yine TME-İD’li kadınlarda ff genotipi ile FF genotipi arasında fark olmamasına rağmen (%95 GA: 0.29-26.03, p=0.37) risk faktörü 2.77 kat fazla idi. TME-İD/kontrol grubu ve kadın kontrollerde de F ve f alellerinin dağılımları farklı değildi. Sonuç: FokI polimorfizminin TME-İD/TMEOA gelişmesi üzerinde önemli bir etkisi olduğu düşünülebilir. ff genotipi, TME-İD hastalarında ve TME-İD’li kadınlarda temporomandibular eklem dejenerasyonu ile ilgili olabilir.

Association of vitamin D receptor gene FokI and TaqI polymorphisms and risk of RDS

Background: Vitamin D and its receptor (VDR) have important roles in perinatal lung development. The objective of this study was to investigate the possible association between VDR FokI and TaqI polymorphism and development of respiratory distress syndrome (RDS) in preterm infants.Method: A total of 173 premature infants <34 weeks: 82 with RDS and 91 without RDS were enrolled. Genotyping of VDR polymorphisms was assayed by real-time PCR. Serum 25-hydroxyvitamin D (25-OHD) levels were measured by ELISA in blood samples that were obtained at the time of admission to the neonatal intensive care unit.Results: Gestational age (GA) was significantly lower in the RDS group compared with the controls. In univariate analysis, VDR TaqI CT and CC genotypes were associated with the increased risk of RDS (OR = 3.264, p = .001, 95% CI = 1.597–6.672 and OR = 5.222, p < .001, 95% CI = 2.165–12.597, respectively); while VDR FokI showed no association with RDS. In multivariate logistic regression analysis, variant TaqI genotype increased risk of RDS (p = 0.001, OR = 3.464, 95% CI = 1.655–7.251) independent of gestational age, birth weight and gender. 25-OHD levels in the RDS group were significantly lower compared with those in without the RDS group (p = .002). Serum 25-OHD levels were not significantly different among the different FokI and TaqI genotypes in RDS group.Conclusions: This is the first report of association of VDR polymorphism with RDS development in preterm neonates. Current study suggests that VDR TaqI polymorphism may be involved in predisposition to RDS in premature neonates. Further studies are needed to assess the contribution of vitamin D and VDR signaling to the pathogenesis RDS

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.