Vitamin D Receptor Gene TaqI Polymorphism Research Articles

Association between vitamin D receptor gene polymorphism (rs731236) and aggrecan gene VNTR polymorphism with the risk of lumbar intervertebral disc degeneration.

Background:Low back pain is one of the most common causes of referral to physicians. Lumbar disc degeneration (LDD) is the main cause of back pain in different countries. It seems that genetic factors are more effective than environmental factors in the developing of degenerative phenomena. The aim of this investigation, therefore, was to study the association of the aggrecan gene (ACAN) variable number tandem repeat (VNTR) and the vitamin D receptor (VDR) rs731236 (TaqI) polymorphisms, with lumbar intervertebral disc degeneration in a population in the North of Iran.Methods:In this study, 55 patients with symptomatic intervertebral disk degeneration and 55 control subjects were included. VDR gene polymorphism was genotyped by PCR-based RFLP. The isolated DNA was used to genotype the VNTR of ACAN gene via conventional PCR.Results:For VDR gene polymorphism, the CC genotype (OR=5.337, P=0.019) was significantly higher among the patients compared with the controls, revealing a higher frequency of the C allele in patients compared with controls (OR=2.707, P=0.005). The lower number of frequent repetitions in the VNTR aggrecan gene was associated with a six-time increase of lumbar disc degeneration. Also, high BMI can be considered as an independent factor in the incidence of this disease.Conclusion:Aggrecan gene VNTR polymorphism had an association with degeneration of lumbar intervertebral discs that the shorter VNTR repeats increasing the chance of the disc degeneration in this population in the North of Iran. Moreover, an association between the mutant allele (C) of VDR gene TaqI polymorphism and disc degeneration is found.

Association of VDR gene TaqI polymorphism with the susceptibility to prostate cancer in Asian population evaluated by an updated systematic meta-analysis.

BackgroundThe vitamin D receptor (VDR) plays a key role in vitamin-mediated signaling pathway. Emerging evidence has suggested that the VDR polymorphism may contribute to the risk of prostate cancer (PCa). However, the existing results are not conclusive in Asian population.MethodsWe aim to evaluate the potential role of VDR polymorphisms on PCa of Asian population. PubMed, Scopus, Embase, Web of Science, Chinese National Knowledge Infrastructure, Wang Fang Data, and VIP Periodical were retrieved, and eligible studies (case–control or cohort study) meeting the inclusion criteria were evaluated through an updated meta-analysis using Stata13.0 software.ResultsA total of 1,363 cases and 2,101 controls obtained from 13 eligible publications were eventually included in this meta-analysis. Our results show that a significant association of VDR taq1 polymorphism with PCa risk, especially in the Japanese population. In the clinical stage-stratified analysis, the pooled results revealed no significant difference in genetic polymorphisms between the local stage and control groups, whereas there was increased frequency of T allele and TT genotype in the advanced tumor stage group compared with local tumor stage or control groups. Similarly, no significant difference was seen in Gleason <7 and control groups, but the T allele and TT genotype were significantly higher in the Gleason ≥7 group compared with Gleason <7 or control groups.ConclusionThe VDR TaqI polymorphism might be associated with PCa risk in Asian population, especially in the Japanese population. Also, PCa patients carrying the T allele or TT genotype were more likely to progress to advanced stage. These results suggest that VDR TaqI polymorphisms may be potential diagnostic biomarkers for PCa susceptibility.

Role of TaqI-Genetic Polymorphism of Vitamin D Receptor Gene in Bone Metabolism in Children with Inflammatory Bowel Disease

Evaluation of bone mineralization and bone metabolism in children with inflammatory bowel disease (IBD) in accordance with TaqI-polymorphic genotypes of vitamin D receptor (VDR) has been performed in this study. 83 children (38 girls and 54 boys) with IBD (60 with Crohn’s disease, 23 with ulcerative colitis) have been included in the study. Mean age was 13.0 years (11.0; 15.5). All patients have active phase of the disease. Bone mineral density (BMD) of lumbar spine (DEXA) have been assessed in all children. Level of serum osteocalcin (OC) as a marker of osteosynthesis, C-terminal telopeptides (CTT) as a marker of osteoresorbtion, parathyroid hormone (PTH), serum calcium, phosphorus, alkaline phosphatase and 25(OH) vitamin D was measured to evaluate bone metabolism. Molecular-genetic tests: analysis of TaqI (rs731236) polymorphism of vitamin D receptor gene (VDR) was perfomed by polymerase chain reaction with following restriction analysis. Association between molecular markers of VDR gene and bone metabolism and mineralization disturbances have been found. TT genotype of VDR gene was associated with tendency to decrease of linear growth velocity, low linear growth, decrease in osteosynthesis and increase of osteoresorbtion in this group of children. TT-genotype of TaqI-polymorphism of VDR gene can be assessed as a risk factor of bone metabolism disturbances in children with both Crohn’s disease and ulcerative colitis. C allele seems to have protective role in this group.

Associations between vitamin D receptor gene polymorphisms and ankylosing spondylitis in Chinese Han population: a case-control study.

We assessed whether the vitamin D receptor gene polymorphisms (FokI, BsmI, ApaI, and TaqI) were associated with ankylosing spondylitis (AS) in a Chinese Han population. The TaqI polymorphism G allele was a risk factor in AS susceptibility. Previous studies have found that serum vitamin D levels are declined in patients with AS. The present study aims to evaluate the role of vitamin D receptor (VDR) gene polymorphisms in AS susceptibility in a Chinese Han population. Four single nucleotide polymorphisms (SNPs) in the VDR gene (FokI (rs2228570), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236)) were genotyped by the improved multiplex ligase detection reaction (iMLDR) method in 620 AS patients and 620 geographically and ethnically matched healthy controls. Haplotypes were constructed after linkage disequilibrium (LD) analysis. Statistically significant difference was only found in the TaqI polymorphism between AS patients and controls. The TaqI polymorphism G allele was higher in AS group than that in controls (OR [95% CI] = 1.624 [1.122-2.352], χ (2) = 6.705, P = 0.006). Linkage disequilibrium has been detected in TaqI and BsmI polymorphisms (D' = 0.87, r (2) = 0.70). Two novel haplotypes (H1: AC and H2: GT) were significantly associated with the risk of AS, and they play protective and risk roles in AS morbidity, respectively. The VDR gene TaqI polymorphism G allele may be a risk factor in AS susceptibility.

TaqI polymorphism of VDR gene contributes to breast cancer risk

Previous studies on the association of Vitamin D receptor (VDR) TaqI gene polymorphism with breast carcinogenesis have yielded inconsistent and inconclusive findings. The current meta-analysis was performed to provide a more precise assessment on the role of VDR TaqI polymorphism in breast cancer risk. 20 eligible case-control studies involving 9,055 cases and 10,516 controls were identified after a comprehensive literature search of the PubMed, Embase, Web of Science, and Wanfang databases. The pooled odds ratio (OR) with corresponding 95% confidence interval (95% CI) was calculated. Stratified analyses by ethnicity and study quality were conducted for further estimation. All statistical analyses were conducted by use of STATA (STATA Corporation, College Station, TX, Version 11.0). The overall ORs showed that the variant t allele and tt genotype were related to an increased risk of breast cancer (OR(t vs. T) = 1.05, 95% CI 1.01-1.10, P(OR) = 0.025; OR(tt vs. TT) = 1.12, 95% CI 1.03-1.23, P(OR) = 0.011; OR(tt vs. Tt + TT) = 1.10, 95% CI 1.01-1.20, P(OR) = 0.023). Stratified analyses of studies in Caucasians and with high-quality further confirmed the results. However, no significant relationship was observed among Asians. This meta-analysis suggests that the VDR TaqI polymorphism confers risk effect on the breast cancer development, particularly in Caucasians.

RT-qPCR assay on the vitamin D receptor gene in type 2 diabetes and hypertension patients in Turkey

RT-qPCR was used to analyze the vitamin D receptor (VDR) gene TaqI polymorphism in 100 Turkish patients with type 2 diabetes mellitus (T2DM) and hypertension compared with 100 healthy subjects, to determine whether VDR could be considered as one of the susceptibility genes for T2DM and hypertension. Genotyping was done with PCR, followed by melting curve analysis with specific fluorescent hybridization probes. The results showed that distributions for TT, Tt and tt genotypes were 51, 46 and 3% in the patient group, and 35, 49 and 16% in the control group, respectively. The frequency of the T allele in patients was also significantly higher than that in controls. Based on the results, the relationship between the VDR gene TaqI polymorphism and T2DM patients in the Turkish population was compared. In terms of the genotype distributions and allele frequencies of the VDR gene TaqI polymorphism, there was no statistically significant difference (P > 0.05) between the T2DM and hypertension patients and controls. Application of RT-qPCR method enabled us to assess the prevalence of the VDR gene TaqI polymorphism and its association with type 2 diabetes and hypertension.

Polymorphisms of vitamin D receptor gene in Turkish familial psoriasis patients

Psoriasis is characterized by hyperproliferation and abnormal differentiation of keratinocytes, and inflammation. 1,25-Dihydroxyvitamin D3, which is used for the treatment of psoriasis, binds to vitamin D receptor (VDR) and modulates gene transcription. We analyzed VDR gene FokI, ApaI and TaqI polymorphisms in 51 Turkish familial psoriasis patients (psoriasis vulgaris and psoriatic arthritis) and 100 healthy subjects, and evaluated the correlation between VDR genotypes and calcipotriol response. We found that the TT genotype was significantly more frequent in the patients than in the controls (51 vs. 35%: P < or = 0.05). The frequency of the T allele in patients was also significantly higher than that in the controls (73.5 vs. 59.5%: P < or = 0.025). In psoriatic arthritis patients, T allele frequency was even higher (91.7%: P < or = 0.05). With regard to response to calcipotriol treatment, in nonresponsive patients TT genotype and T allele frequencies were higher than they were in the controls (63.6 vs. 35%: P < or = 0.025, 81.8 vs. 59.5%: P < or = 0.01, respectively). In conclusion, we show that VDR gene TaqI polymorphism is associated with familial psoriasis in the Turkish population. We also demonstrate that VDR gene polymorphisms may play a role in partial resistance to calcipotriol therapy.