Gene BsmI Research Articles

The relationship between vitamin D receptor gene polymorphism and deciduous tooth decay in Chinese children

BackgroundIn the present study, we explored the link between vitamin D receptor (VDR) BsmI, TaqI, ApaI and FokI gene polymorphisms with deciduous tooth decay in Chinese children.MethodsOur study included 380 Chinese children aged 4–7 years, whose DNA sample was collected from the buccal mucosa. VDR gene polymorphisms was determined by PCR-RFLP.ResultsThe adjusted logistic regression analysis demonstrated that BsmI containing the Bb genotype was linked with the increased risk of deciduous tooth decay (OR = 1.856, 95% CI = [1.184, 2.908], p = 0.007). However, VDR polymorphisms ApaI, TaqI and FokI were not associated with deciduous tooth decay (ApaI: OR = 0.839, 95% CI = [0.614, 1.145], p = 0.268; TaqI: OR = 1.150, 95% CI = [0.495, 2.672], p = 0.744; FokI: OR = 0.856, 95% CI = [0.616, 1.191], p = 0.356).ConclusionsOur results showed that VDR BsmI polymorphism was associated with the risk of deciduous tooth decay in Chinese children aged 4–7 years. However, the specific mechanism remains to further verify through experiment.

Association between vitamin D receptor BsmI gene polymorphism and periodontitis: a meta-analysis in a single ethnic group

Association between vitamin D receptor BsmI gene polymorphism and periodontitis: a meta-analysis in a single ethnic group

Association between Vitamin D Receptor Polymorphism and Serum Vitamin D Levels in Children with Low-Energy Fractures

Objective: Fractures of bones, especially forearm fractures, are very common in children and their number is increasing. This study was designed to determine the impact of vitamin D serum levels and vitamin D receptor (VDR) polymorphisms on the occurrence of low-energy fractures in children.Methods: The study group consisted of 100 children with clinically relevant bone fractures and a control group consisted of 127 children without fractures. Total vitamin D [25(OH)D3 plus 25(OH)D2] serum concentrations were evaluated in every patient. Genotypes for 4 restriction fragment length polymorphisms of the vitamin D receptor gene (FokI, ApaI, TaqI, and BsmI) were determined by standard polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) techniques.Results: Differences in concentrations of vitamin D were observed between the group with bone fractures (median = 12 ng/ml) and the control group (median = 16 ng/ml; p = 0.000044).Higher levels of vitamin D reduced the risk of fracture by 1.06 times (p = 0.0005). No impact of particular VDR polymorphism on the occurrence of low-energy fractures in children was detected. However, there were significant differences in the prevalence of FokI polymorphism genotypes between the fracture and control groups (p = 0.05). Furthermore, the recessive “aa” genotype of ApaI polymorphism and the dominant “TT” genotype of TaqI polymorphism were associated with higher levels of vitamin D (p = 0.005 and p = 0.036, respectively).Conclusions: Vitamin D deficiency is an independent risk factor for fractures in children. ApaI polymorphism recessive “aa” and TaqI polymorphism dominant “TT” genotypes are associated with higher levels of vitamin D in serum.

Vitamin D Status and its Receptor Genes BsmI, FokI, ApaI, TaqI Polymorphism in Relation to Glucose Metabolism in Obese Iraqi Type 2 Diabetes Mellitus Patients

Background: Vitamin D receptor (VDR) gene polymorphisms are possibly involved in the development of type 2 diabetes mellitus (T2DM). However, the data to date have been inconclusive. Previous studies have suggested an influence of vitamin D receptor alleles on glucose metabolism and on susceptibility to type 2 diabetes mellitus in different ethnic populations through the action of vitamin D endocrine system which related with calcification and lipolysis, insulin secretion, and may be associated with many complicated disease including diabetes. To investigate the relationship between a single nucleotide polymorphism (SNP) of VDR gene and T2DM more studies had been done. However, different results have been found in different spots of the world. Therefore, more studies are needed to understand the variation in these results. This is the first study that shows the implication of the SNP of VDR gene in T2DM in Iraqi patients. Objective: To assess the correlation between serum 25(OH)D3 levels, and vitamin D receptor (VDR) polymorphisms (Fok1, BsmI, TaqI and ApaI), and glycemic control in obese T2DM Iraqi population, this study was performed. Materials and methods: 200 clinically diagnosed T2DM patients, distributed into three subgroups according to therapeutic pattern and 75 healthy controls from the Iraqi population were recruited in this study. The association between the VDR gene SNPs and the T2DM was determined using Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique, and genotype and allele frequencies were calculated between the T2DM and control groups. Results: No significant differences between mean age and the body mass index between both case and control groups were observed. According to current glycemic control consensus, results demonstrated only 20.5 percent of the T2DM patients met this target, which meant that 79.5 percent of the cases were suffering from poor glycemic control 25(OH)D3 levels were significantly lower in the T2DM patients than in the control group, being 17.49 ± 1.12 ng/ml and 31.26 ± 1.25 ng/ml, in the patient and control groups, respectively (p 20 < 30 ng/ml (chi-squared test, p<0.0001). The gene polymorphism analysis for T2DM showed that genotype and alleles frequencies for the VDR genes were in agreement with Hardy–Weinberg equilibrium in all cases. Conclusion: VDR gene polymorphism analysis revealed that neither genotypes nor alleles of VDR BsmI, ApaI showed a significant variation between T2DM patients and controls. In contrast‚ the FF genotype of VDR FokI and TT genotype of VDR TaqI showed a significant (P<0.0001) increase in T2DM patients in comparison to controls. FF and TT homozygotes had significantly higher baseline fasting glucose and HOMI-IR levels than f allele carriers. In addition, data found significantly elevated interlukin IL-6, TNF-α, IL -1β and decreased osteocalcin in association with the Taq1 polymorphism.

VDR gene polymorphism in children with allergic diseases

Background. To investigate the frequency of vitamin receptor gene D (VDR) polymorphism in children with allergic diseases. Materials and methods. We enrolled 130 children (66 boys and 64 girls) with allergic diseases aged from 1,5 to 16 years old. All children underwent clinical and allergological examination. 93 children (71,5%) had isolated allergy, mainly food allergy and atopic dermatitis, 37 children (28,4%) had bronchial asthma, associated with allergic rhinitis and urticaria. The control group included 41 healthy children aged from 1 to 10 years old. For DNA allotment the kit ProbaRapid Genetics of DNA Technology (Russia) was used. Analysis of polymorphic marker FokI (rs 2228570), BsmI (rs 1544410) and TaqI (rs 731236) of VDR gene was performed by PCR in real time using the detecting thermocycler DT-96, and kits for DNA diagnostics company DNA technology (Russia). Research metabolite 25-OH (25-hydroxyvitamin D2 and D3) of vitamin D was carried out by ELISA commercial kit DIAsource (Belgium). Results. Significantly increased frequency of allele A in the VDR gene BsmI site (OR=1,81, p=0,04) and homozygous A/A, heterozygous G/A genotype (OR=2,03, p=0,05 and OR=1,8, p=0,05, respectively) was found, that enables to consider it as a prognostic marker associated with the development of allergic disease risk. Statistically significant reduction in the concentration of 25-OH-vitamin D (p=0,02) in children with the heterozygous variant A/G and homozygous G/G in Fok1 VDR gene was found. Conclusion. There were significant differences in frequencies of genotypes and alleles of DVR gene in children with allergic diseases in the population. These results create the preconditions for the development of new methods of prevention of vitamin D deficiency, taking into account the individual characteristics of its metabolism.

Vitamin D status, receptor gene BsmI (A/G) polymorphism and breast cancer in a group of Egyptian females

BackgroundVitamin D is involved in a wide variety of biological processes including bone metabolism, modulation of the immune response, and regulation of cell proliferation and differentiation. The present study aimed to investigate vitamin D status and the genetic polymorphism BsmI (A/G) of vitamin D receptor (VDR) among a group of Egyptian female patients with breast cancer. MethodsThe current study included 60 female patients diagnosed as breast cancer (BC) attending Mansoura Oncology Center, Mansoura University, and 60 age-matched healthy control females. Serum 25(OH) vitamin D level was measured using Enzyme-linked immunosorbent assay (ELISA) kit. A polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method and fragment analysis were performed to determine the VDR BsmI (A/G) polymorphism. Results25(OH) vitamin D levels were significantly lower in the patients with BC (22.1±10.9ng/ml) compared to controls (41.2±11.22ng/ml) (p⩽0.001). Vitamin D deficiency- insufficiency was reported in 76.7% of BC patients and 20% of the controls (P⩽0.001, OR=13.1, 95%CI=5.5−31.4). Bb genotype was statistically higher in the BC patients than in the healthy controls (P⩽0.001). 81.2% of BC patients were of Bb genotype, 10.9% of BB genotype and 4.3% of bb genotype, while in controls, 33.3% for each genotype. No statistically significant difference in allele frequency was observed between the two studied groups. Carriers of Bb genotype had 4.6times increased risk of developing breast cancer (95% confidence interval of 2.0–10.3) when compared to other genotypes. ConclusionA significant association exists between vitamin D deficiency and the risk of breast cancer. B allele or Bb genotype of VDR may be a susceptibility risk factor for BC development.

Vitamin D receptor gene BsmI polymorphisms in Egyptian children and adolescents with systemic lupus erythematosus: A case-control study.

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. To date, only a few studies concerned the association of the VDR gene polymorphisms with childhood-onset SLE.In this study, we aimed to investigate the BsmI polymorphisms in the VDR gene, for the first time in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a marker of susceptibility to or severity of SLE and we also measured the serum level of 25-hydroxyvitamin D (25[OH] D) to assess its relation to such polymorphism.This was a case–control study including 100 patients with SLE and matched with age, sex, and ethnicity and 100 healthy controls. All subjects were genotyped for the VDR gene BsmI polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), whereas the serum 25(OH) D levels were measured by enzyme-linked immunosorbent assay method.Compared to the contros subjects, the VDR BsmI BB genotype and B allele were overrepresented among SLE patients (odda ratio [OR]: 5.5; 95% confidence interval [CI]: 1.9–15.9; P = 0.002 and OR: 1.84; 95% CI: 1.21–2.80; P = 0.003; respectively). We found a significant association between VDR BsmI BB genotype with lupus nephritis (OR: 6.8; 95% CI: 1.18–50.5; P = 0.001). However, we did not observe any significant association of studied polymorphisms with other clinical manifestations, laboratory profiles of SLE, or disease activity score. Our data revealed no association between VDR BsmI genotypes or alleles and serum 25-hydroxyvitamin D levels among studied patients with SLE (all P > 0.05).We demonstrate for the first time, to the best of our knowledge, that the VDR BsmI gene polymorphisms may contribute to susceptibility to SLE in Egyptian children and adolescents. Moreover, we found that the BB genotype constituted a risk factor for the development of nephropathy among studied patients with SLE. However, we did not find any significant association of the VDR BsmI gene variants with other clinical manifestations, laboratory profiles of SLE, disease activity index score, or serum 25-hydroxyvitamin D levels.

Bsm1 Gene polymorphism of the vitamin D receptor in breast cancer patients: influence of obesity and relevant drugs

Breast cancer (BC) is a common cancer among women, especially in developing countries. Circulating serum 25-hydroxyvitamin D [25(OH)D] is the key factor that regulates tissue synthesis of the active form 1,25-dihydroxyvitamin D [1,25(OH)2D]. 1,25(OH)2D has anticarcinogenic properties against breast cancer via binding to vitamin D receptors (VDRs). One of the common VDRs gene polymorphism which is located at the 3′ end of VDR gene is the Bsm-I gene polymorphism (rs1544410). Certain VDRs polymorphisms are associated with obesity and show relation to breast cancer risk. The current study was conducted on 60 breast cancer females and 30 healthy control subjects of matched age. Total serum 25(OH) vitamin D was measured using enzyme-linked immunosorbent assay (ELISA) technique. Vitamin D receptor VDR–Bsm1 gene polymorphism was assessed by PCR/RFLP method. Levels of 25(OH) vitamin D were significantly decreased in total, overweight, and obese BC patients in comparison to control group (p = 0.002, <0.001, <0.001, respectively). Regarding Bsm-1 polymorphism, no significant differences were observed between BC patients and control subjects with no risk to develop BC. Bsm-1 gene polymorphism is not associated with breast cancer risk and this result is not affected by increased BMI. A protective effect is observed for [25(OH)D] and ionized calcium levels against BC development.

Association of hematology profile with serum 25-hydroxy vitamin D and Bsml polimorphism in community-dwelling older adults

ABSTRACT Objective: To investigate the association between serum level of 25-hydroxy vitamin D and the Vitamin D Receptos gene BsmI polymorphism in the blood profile of community-dwelling older adults. Methods: This cross-sectional study included 142 older males and females. A questionnaire collected socio demographic information, medical history, and factors associated with sun exposure. Weight, height, and waist circumference were measured. Biological material was collected to analyze biochemical parameters 25-hydroxy vitamin D, parathormone, serum calcium, urea, creatinine, liver enzymes, and blood profile) and to verify the presence of the vitamin D receptos gene BsmI polymorphism. Results: Most participants were female (80.3%). The mean levels of 25-hydroxy vitamin D, hemoglobin, and hematocrit were 32.1±7.3 ng/dL, 13.5±1.5 d/dL, and 40.0±4.4%, respectively. Fifty-eight (40.8%) participants had vitamin D insufficiency/deficiency (25.7±3.3 ng/mL), and 18 (12.6%) had anemia. Serum vitamin D was associated with hemoglobin (p=0.030) and hematocrit (p=0.032). However, when subjects were categorized as anemic or not anemic, said association was not maintained (p=0.270). Moreover, the BsmI polymorphism was not associated with hemoglobin and hematocrit levels, regardless of vitamin D status. Conclusion: The serum level of vitamin D is associated with hematocrit and hemoglobin levels in older adults. However, these blood parameters were not associated with the vitamin D receptor gene BsmI polymorphism.

ApaI, BsmI and TaqI VDR gene polymorphisms in association with multiple sclerosis in Slovaks

Objective: Vitamin D acts through vitamin D receptor (VDR) and has promising beneficial effects in the development and progression of multiple sclerosis (MS). The purpose of our study was to investigate the possible association of the VDR gene polymorphisms ApaI, BsmI and TaqI with the MS susceptibility and with the rate of disease disability progression in the Central European Slovak population.Methods: The allele and genotype variants of ApaI, TaqI and BsmI VDR gene polymorphisms were analysed in 270 clinically diagnosed MS patients and 303 healthy controls. Genotyping was performed by polymerase chain reaction and restriction analysis. Patients were stratified by the rate of disease disability progression using MSSS scores.Results: By logistic regression analysis, we revealed that genotype BB (AA) of BsmI VDR gene polymorphism is decreasing the risk of MS (BB (AA) vs Bb (AG) + bb (GG); OR = 0.59, 95% CI = 0.39–0.90, plog = 0.014). We did not identify any association of ApaI and TaqI polymorphisms neither with MS development nor with the disease progression.Discussion: We showed for the first time that BsmI genotype BB (AA) is associated with the decreased susceptibility to MS in Slovak population. We propose the BsmI gene polymorphism to be one of the important genetic markers in evaluation of the risk of MS. However, our data suggest that VDR gene polymorphisms ApaI, BsmI and TaqI are not useful in the prediction of disease disability progression rate in MS in Slovaks.

VITAMIN D RECEPTOR GENE POLYMORPHISM IN RELATION TO PTH IN CHRONIC KIDNEY DISEASE

Background/Aim: Vitamin D is a fat-soluble steroid hormone that interacts with its nuclear receptor (VDR) to regulate a variety of biological processes, such as bone metabolism, immune response and transcription of several genes involved in chronic kidney disease (CKD).The aim of this work was to investigate the relation between vitamin D receptor genotype and parathyroid hormone (PTH) in predialysis patients and patient on hemodialysis.Method: We investigated theVDR Taq-I and VDR Bsm-I gene polymorphisms in 46 patients with chronic kidney disease under conservative treatment, 50 patients on hemodialysis and 70 age and sex matched healthy volunteers. This study was performed by restriction fragment length polymorphism (RFLP).Results: For the Taq-I polymorphism, the T allele is considered as the risk allele. Carrying T allele increases the risk for both chronic kidney disease and renal failure. The risk for CKD increases by 3.3 fold and the risk for renal failure by 8 folds. For the Bsm1 polymorphism, the A allele is considered as the risk allele. Carrying A allele increases the risk for CKD by 3.6 fold and the risk for renal failure by 8 folds.Conclusion: Bsm1 and Taq1gene polymorphisms of VDR gene were associated with end stage renal disease (ESRD) and with hyperparathyroidism among Egyptian population. Keywords: chronic kidney disease .vitamin D Receptor. Parathyroid hormone.

BsmI, ApaI and TaqI Polymorphisms in the Vitamin D Receptor Gene (VDR) and Association with Lumbar Spine Pathologies: An Italian Case-Control Study.

Three adjacent single nucleotide polymorphisms of the vitamin D receptor gene (VDR) BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236) are commonly studied in several pathologies. We aimed to evaluate the distribution of VDR BsmI, ApaI, and TaqI allele, genotype, and haplotype frequencies in an Italian cohort of 266 patients with lumbar spine disorders assessed by Magnetic Resonance Imaging and 252 asymptomatic controls. The exposure to putative risk factors was evaluated by a questionnaire. Polymorphisms were detected by PCR-RFLP and TaqMan® SNP Genotyping Assay. The results were statistically adjusted for the identified conventional risk factors. The three SNPs were in linkage disequilibrium. For all cases BbAaTT was a 3-fold risk factor OR = 3.38), whereas bbAATT (OR = 0.22), and bbaaTT (OR = 0.47) genotypes were found to be protective. Specifically, for patients affected by disc herniation only (n = 88) and all lumbar pathologies excluding stenosis and/or spondylolistesis (n = 215) B allele, Bb, Aa, and BbAaTT genotypes were risky, whereas b allele, bb, aa, and bbaaTT genotypes were protective. In patients affected by osteochondrosis with or without disc hernation (n = 50), T allele, Aa, and bbAaTT genotypes were risky, whereas t allele, AA, tt genotypes were protective. In patients affected by stenosis and/or spondylolistesis (n = 51) no significant associations were found. This is the first study showing an association of the three genetic VDR variants BsmI, ApaI, and TaqI and lumbar spine pathologies. Our study contributes to delineate genetic risk factors for specific subgroups of patients with lumbar spine pathologies highlighting the importance of haplotype analysis, and of detailed clinical evaluation of the patients for identification of genetic biomarkers.

Association of the BsmI, ApaI, TaqI, Tru9I and FokI Polymorphisms of the Vitamin D Receptor Gene with Nephrolithiasis in the Turkish Population.

To analyze the relationship between nephrolithiasis and vitamin D receptor (VDR) gene BsmI (rs1544410), ApaI (rs7975232), TaqI (rs731236), Tru9I (rs757343) and FokI (rs2228570) polymorphisms in a study group from the Turkish population. Ninety-eight patients with calcium oxalate kidney stones and 70 controls were enrolled in this study. Five polymorphisms of the VDR gene were studied using the Polymerase Chain Reaction Restriction Fragment Length Polymorphism (PCR-RFLP) method. For all polymorphisms, genotype frequencies were in line with Hardy-Weinberg equilibrium in the patients and controls. For the BsmI polymorphism, allele frequency distribution was found to differ significantly between the patients and the controls (P < .05). The "B" allele was found to increase the risk of nephrolithiasis by approximately 1.5-fold (odds ratio = 1.55, 95% confidence interval: 1.00-2.40; P = .048). However, we did not find any statistically significant differences in the allele and genotype frequencies for the ApaI, TaqI, Tru9I and FokI polymorphisms. Proportionally, the "BAt" and "baT" haplotypes were more common than other haplotypes in the cases and controls, respectively. For the haplotypes of the BsmI and TaqI polymorphisms, the "bT" haplotype frequency was found to be common in both the patients and the controls. However, we did not find statistically significant differences between the cases and the controls for either the BsmI / ApaI / TaqI or the BsmI/TaqI haplotypes. Moreover, no relationship was identified between family history and development of stone disease. The "B" allele of the BsmI polymorphism of the VDR gene may increase stone development risk. Further investigations are needed to improve our knowledge regarding the genetic factors affecting urinary stone development.

Polimorfizmy BsmI i FokI genu dla receptora witaminy D a parametry gospodarki wapniowo-fosforanowej u dzieci z regionu łódzkiego

Polimorfizmy BsmI i FokI genu dla receptora witaminy D a parametry gospodarki wapniowo-fosforanowej u dzieci z regionu łódzkiego

Impact of the polymorphism in vitamin D receptor gene BsmI and the risk of systemic lupus erythematosus: an updated meta-analysis.

The etiology of system lupus erythematosus (SLE) still remains unclear, and vitamin D is associated with immune response. Although a few studies are conducted to investigate the association between polymorphism in vitamin D receptor (VDR) genes and SLE risk, their results are conflicting. Following the guideline of PRISMA, we conducted a systematic search and meta-analysis of the BsmI polymorphism rs1544410 and the risk of SLE. The pooled odds ratios (OR) and its 95% confidential interval (CI) were calculated by using Stata Version 10 with dominant and recessive model and allele analyses. Nine studies were included in our meta-analysis with a total of 1247 SLE cases and 1687 controls. No significant association was found in both models in the overall population. Only Bb + BB genotypes showed a significantly elevated SLE risk in Asian subgroup with an OR of 3.26 (95% CI = 1.30-8.17) while no significance was observed in Caucasian population. Notably, B allele significantly increased the SLE risk among Asian population with an OR of 2.29 (95% CI = 1.14-4.61). No positive findings were reported in Caucasian population and in the overall analysis. In Asian population, Bb + BB genotype and B allele can significantly increase the SLE risk.

Lack of Influence of Vitamin D Receptor BsmI (rs1544410) Polymorphism on the Rate of Bone Loss in a Cohort of Postmenopausal Spanish Women Affected by Osteoporosis and Followed for Five Years.

A longitudinal study was conducted to investigate the relation between a polymorphism in the vitamin D receptor (VDR) gene and changes in bone mineral density (BMD) and quantitative ultrasound of the phalanges (QUS) over a five-year period. The subjects were 456 postmenopausal women with osteoporosis undergoing treatment, aged 59.95±7.97 years (mean±standard deviation [SD]) at baseline. BMD was measured at the hips and lumbar spine by dual-energy X-ray absorptiometry, and QUS was measured by means of amplitude-dependent speed of sound (Ad-SoS) at the phalanges. Lifestyle information was obtained via a questionnaire. The genotype frequencies of the BsmI (rs1544410) gene polymorphism were 29.4%, 47.1%, and 23.5% for bb, Bb, and BB, respectively. After five years, BMD (annual change in %/year) at the femoral neck (FN) showed a significant modification based on the rs1544410 genotype (BB vs Bb); there was an overall decrease in bone mass (-0.70±2.79%/year; P = 0.025). An analysis of covariance with adjustments for age, weight, height, percentage of weight change per year, baseline BMD and calcium intake showed that the observed associations were no longer significant (P = 0.429). No significant associations were found between the QUS measurements and the rs1544410 genotype after the five-year period. Our study limitations includes lack of information about type and length of duration of the osteoporosis treatment. Our results indicate that rs1544410 polymorphisms do not account significantly for the changes in bone mass in Spanish women with osteoporosis undergoing treatment.

Lack of association of vitamin D receptor BsmI gene polymorphism with bone mineral density in Spanish postmenopausal women.

Osteoporosis is a polygenic disorder that is determined by the effects of several genes, each with relatively modest effects on bone mass. The aim of this study was to determine whether the vitamin D receptor single nucleotide polymorphism BsmI is associated with bone mineral density (BMD) in Spanish postmenopausal women. A total of 210 unrelated healthy postmenopausal women aged 60 ± 8 years were genotyped using TaqMan® SNP Genotyping Assays. Lumbar and femoral BMD were determined by dual-energy X-ray absorptiometry (DEXA). Daily calcium and vitamin D intake were determined by a food questionnaire. No differences were found in the femoral neck, trochanter, Ward’s Triangle, L2, L3, L4, L2-L4, or between the femoral neck and total hip BMD after further adjustment for potential confounding factors (P > 0.05) (age, BMI, years since menopause and daily calcium intake). The BsmI polymorphism in the VDR gene was not associated with BMD in Spanish postmenopausal women.

Vitamin D receptor gene polymorphism in rheumatoid arthritis and its association with atherosclerosis

Determine vitamin D receptor gene BsmI, FokI polymorphism and 25-hydroxyvitamin D in early Egyptian rheumatoid patients and its association to subclinical atherosclerosis. This study included forty early rheumatoid arthritis patients and forty healthy controls. Disease activity score 28 (DAS-28), Modified Health Assessment Questionnaire (MHAQ), Carotid intima-media thickness (cIMT) were assessed using B-mode ultrasound, Erythrocyte sedimentation rate (ESR), C reactive protein (CRP), Lipid profile, anti cyclic citrullinated PolyPeptid (anti-CCP), serum interleukin-6, Total serum vitamin D and genotype determination of BsmI, FokI polymorphism and allel frequency were measured. Vitamin D deficiency was observed in 25% of patients. There was no significant difference between RA patients and controls regarding the distribution of BsmI genotype frequencies and allele. However, a significant difference between rheumatoid arthritis patients and controls regarding the distribution of FokI genotype and allele frequencies was found. In addition, FokI polymorphism and the F allele was significantly associated with RA. anti-CCP, interleukin-6 levels, (cIMT) and vitamin D deficiency were significantly higher in the presence of bb homozygote of BsmI genotypes and FF homozygote of FokI genotypes. A significant negative correlation between 25 hydroxy vitamin D levels with (DAS-28), ESR, (CRP), and IL-6 (P < 0.001). However, there was positive correlation between 25 hydroxyvitamin D levels and HDL-C (P < 0.001).

Association of VDR gene polymorphisms with heart disease in chronic kidney disease patients

ObjectivesIt has been postulated that VDR polymorphisms influence mortality in CKD by directly modifying VDR protein levels or VDR sensitivity in target organs. Here we aimed at evaluating the possible association of VDR FokI and BsmI gene polymorphisms with co-morbid conditions of CKD at different stages. Design and methodsThe patients included in this study were a Sicilian cohort of 171 subjects, at CKD stage 1–2 (n=49), stage 3 (n=34), stage 4–5 (n=34), and hemodialysis (HD) (n=54). Almost 70% of patients were also suffering from heart disease, with/without diabetes and/or hypertension, and 40% were also suffering of hypertension, with/without diabetes and/or heart disease; only around 20% had no co-morbid conditions. ResultsA highly significant association was found between the BsmI B minor allele and heart disease in all CKD stages. Indeed, the odds ratio calculation showed that patients bearing either the bB or BB genotype had, respectively, a seven-fold and around twelve-fold increased risk for heart disease. Instead, the presence of bb wild-type genotype was associated with a fifty-fold reduced risk for heart disease, suggesting that the b allele may display a protective effect. No association was found for FokI genotypes with the different co-morbid conditions. ConclusionsWe first demonstrated that the VDR BsmI B allele may be considered as a genetic determinant for heart disease and hypertension in CKD, independently from disease stage. Thus, the screening for VDR variants should be regarded as a way to better address preventive strategies and improving the management of CKD co-morbid conditions.

Association of ApaI and BsmI polymorphisms with vitiligo risk: a meta-analysis.

It has been reported that polymorphisms of the vitamin D receptor gene (VDR) such as ApaI or BsmI may affect the risk of vitiligo. However, the results have been inconsistent. To evaluate the association between two common polymorphisms (ApaI and BsmI) in the VDR gene and the susceptibility to vitiligo. The PubMed, Cochrane Library and China National Knowledge Infrastructure (CNKI) databases were searched, and OR with 95% CI was calculated. The strength of association and vitiligo risk was assessed under five genetic models: allele, dominant, recessive, homozygous and heterozygous. Six relevant studies were identified, including five studies that assessed the ApaI polymorphism and four the BsmI polymorphism (some overlapped). The meta-analysis results indicated that either the ApaI or the BsmI gene polymorphism may increase the risk of vitiligo in East Asian populations (aa+Aa vs. AA: OR=1.40, 95% CI 1.01-1.96, P<0.05; bb vs. Bb+BB: OR=1.32, 95% CI 1.09-1.59, P<0.01). No publication bias was detected in this meta-analysis. The current meta-analysis suggests that the ApaI a allele or BsmI bb genotype are associated with the risk of vitiligo in East Asian populations. Thus, these polymorphisms could be potential biomarkers for early detection of vitiligo.