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Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis.
Yin, X, Wang, H, Guo, J, Zhang, L, Zhang, Y, Li, L, Hou, S
Medicine. 2018;(2):e9627
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Abstract
BACKGROUND AIS is the most common spinal deformity disease, yet its etiology remains uncertain. Significant associations have been found between AIS risk and vitamin D receptor (VDR) gene polymorphisms; however, some of these results are controversial. The aim of this study was to determine whether VDR BsmI rs1544410 and ApaI rs7975232 polymorphisms are correlated with AIS. METHODS Databases, including PubMed, EMBASE, Web of Science, the Cochrane Library, the Chinese Biomedical Literature Database, and the Wanfang Database, were systematically searched, and eligible case-control studies that explored the association of VDR (BsmI and ApaI) and the susceptibility to AIS were selected. The pooled odds ratio (OR) with 95% confidence interval (95% CI) was calculated to assess the associations, and subgroup meta-analyses were performed according to the ethnicity of the study population. RESULTS A total of 5 studies with 717 cases and 554 controls fulfilled the inclusion criteria after assessment by 2 reviewers. Generally, significant correlations were found between the BsmI polymorphism and AIS risk in overall populations and in Asian populations (overall population: B vs b: OR = 2.12, 95% CI = 1.21-3.75, P = .009; BB vs bb: OR = 3.38, 95% CI = 1.08-10.57, P = .036; Bb vs bb: OR = 2.50, 95% CI = 1.29-4.82, P = .006; BB/Bb vs bb: OR = 2.71, 95% CI = 1.31-5.63, P = .007; Asian population: B vs b: OR = 2.42, 95% CI = 1.27-4.61, P = .007; BB vs bb: OR = 4.09, 95% CI = 1.03-16.22, P = .045; Bb vs bb: OR = 2.94, 95% CI = 1.42-6.10, P = .004; BB/Bb vs bb: OR = 3.23, 95% CI = 1.42-7.35, P = .005). There was no significant association observed in Caucasian populations (all P > .05). With regard to the ApaI polymorphism, we found that it significantly decreased the risk of AIS (Aa vs AA: OR = 0.43, 95% CI = 0.24-0.77, P = .004; Aa/aa vs AA: OR = 0.52, 95% CI = 0.30-0.91, P = .023); however, we could not draw a definitive conclusion for Caucasian populations, as no studies have been conducted in this group to determine the role of the VDR ApaI polymorphism in AIS etiology and development. CONCLUSION VDR BsmI was significantly associated with AIS susceptibility in the overall and Asian populations, while the VDR ApaI polymorphism only played a key role in AIS etiology and development in Asian populations.
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Serum vitamin D level and vitamin D receptor genotypes may be associated with tuberculosis clinical characteristics: A case-control study.
Zhang, Y, Zhu, H, Yang, X, Guo, S, Liang, Q, Lu, Y, Chen, X
Medicine. 2018;(30):e11732
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Abstract
Vitamin D is associated with the susceptibility of tuberculosis and might have an adjunctive effect on anti-tuberculosis treatment. This study aims to investigate the association of vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms with susceptibility and severity to multidrug-resistant tuberculosis (MDR-TB) in comparison with drug-sensitive tuberculosis (DS-TB) and health controls in China.A total of 180 patients with pulmonary TB (128 DS-TB, 52 MDR-TB) and 59 healthy controls were enrolled into 3 groups. Vitamin D levels and VDR genotypes at FokI, BsmI, ApaI, and TaqI sites of all the participants and clinical characteristics of patients with TB were measured and collected.Statistical analysis revealed that vitamin D levels were lower in both TB groups. Patients with TB with bilateral lesions and patients with MDR-TB with extrapulmonary TB had lower vitamin D levels. The frequencies of ff genotype and f allele were higher in both TB groups. Patients with Ff genotype and ff genotype had lower proportion of extrapulmonary TB. Patients with ff genotype had higher proportion of retreatment. Male patients with ff genotype had higher proportion of cavity formation. Patients with DS-TB with AA genotype had higher proportion of cavity formation.Our findings demonstrate that vitamin D deficiency and ff genotype may be the risk factors of TB in Chinese population. In addition, patients with TB with lower level of vitamin D may have a greater risk of bilateral lesions and extrapulmonary TB. VDR genotypes may be associated with TB clinical characteristics.
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Do genetic polymorphisms of the vitamin D receptor contribute to breast/ovarian cancer? A systematic review and network meta-analysis.
Li, J, Li, B, Jiang, Q, Zhang, Y, Liu, A, Wang, H, Zhang, J, Qin, Q, Hong, Z, Li, BA
Gene. 2018;:211-227
Abstract
BACKGROUND To identify the most suitable genetic model for detecting the risk of breast cancer (BC)/ovarian cancer (OC) in specific populations. METHODS Databases were searched for related studies published up to October 2017. First, VDR genetic polymorphisms were compared in patients with and without cancer. Second, a network meta-analysis was used to reveal the relation between VDR genetic polymorphisms with disease outcomes. Subgroup analyses and a meta-regression were performed according to cancer types, ethnicity and genotypic method. The study is registered in PROSPERO with an ID: CRD42017075505. RESULTS Forty-five studies were eligible, which included 65,754 patients and 55 clinical analyses. Of genetic models, results suggested that the recessive model with the CDX2 polymorphism predicted the risk of BC in all cases. The recessive polymorphism model with the rs2228570 (FokI) polymorphism seemed to the best predictor of BC in Caucasian patients, whereas the homozygote model with the CDX2 polymorphism appeared to best predict BC in African-American patients. The homozygote model with the rs2228570 (FokI) polymorphism model appeared to detect the risk of OC in all cases, whereas the heterozygote model with the rs1544410 (BsmI) polymorphism seemed to detect the risk of OC in Caucasian patients. CONCLUSIONS By detecting the risk of BC, the recessive model with the rs2228570 (FokI) polymorphism is likely the best genetic model in Caucasian patients, and the homozygote model with the CDX2 polymorphism appears to be best genetic model in African-American patients. Moreover, for detecting clinical risk of OC, heterozygote models with the rs1544410 (BsmI) polymorphism is likely the best genetic model for detecting the risk of OC in Caucasian patients.
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Osteopontin, Bone Morphogenetic Protein-4, and Vitamin D Receptor Gene Polymorphisms in the Susceptibility and Clinical Severity of Spinal Tuberculosis.
Wang, G, Xie, L, Hu, J, Lu, H, Liu, X, Cao, Y, Liu, B, Zhang, Y, Shen, X
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology. 2017;(5):1881-1893
Abstract
BACKGROUND/AIMS: Spinal tuberculosis (TB) is a common and dangerous form of extrapulmonary TB with unclear mechanisms in its occurrence and progression. This study investigated the clinical significances of bone morphogenetic protein-4 (BMP-4), osteopontin (OPN), and vitamin D receptor (VDR) gene polymorphism, mRNA and protein expression in spinal TB patients. METHODS BMP-4 and OPN gene polymorphisms were detected by direct DNA sequencing, while VDR-FokI polymorphisms were analyzed using PCR-RFLP. mRNA and protein expression was measured using real-time PCR and Western blot, respectively. RESULTS A significant lower frequency of TT genotype and T allele at 6007C>T polymorphism in BMP-4 gene; higher frequency of GG genotype and G allele at -66T>G polymorphism in OPN gene, and higher frequency of the ff genotype and f allele at the VDR-FokI polymorphism were observed in patients with spinal TB compared to controls. TT genotype of 6007C>T polymorphism correlated with a lower BMP-4 mRNA and protein expression, -66GG genotype correlated with a high OPN mRNA and protein expression, and ff genotype correlated with the lower VDR mRNA and protein levels in the intervertebral disc tissues. The TT genotype and low BMP-4 gene expression; the -66GG genotype and high OPN gene expression; and the ff genotype and low VDR gene expression significantly correlated with the clinical severity of spinal TB. CONCLUSION The 6007C>T polymorphism of BMP-4, -66T>G polymorphism of OPN, and VDR-FokI polymorphism are the susceptible factors of spinal TB and indicators of the clinical severity. These three genes may collaborate in the development of spinal TB.
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The Association between VDR Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Systematic Review and Meta-Analysis.
Zhang, Y, Xia, W, Lu, P, Yuan, H
BioMed research international. 2016;:5305282
Abstract
Aims. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic meta-analysis was undertaken to clarify this topic. Methods. A systematic search of electronic databases (PubMed, EMBASE, and CNKI) was carried out until March 31, 2016. The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. Results. A total of 7 studies fulfilling the inclusion criteria were included in this meta-analysis (649 cases and 707 controls). Pooled ORs showed a significant association between FokI polymorphism and DR risk in all the four genetic models (OR = 1.612 (1.354~1.921), 1.988 (1.481~2.668), 1.889 (1.424~2.505), and 2.674 (1.493~4.790) in allelic, dominant, recessive, and additive models, resp., PZ < 0.01), but not for TaqI or BsmI polymorphism (PZ > 0.05). Similar results were found in the subgroup analysis. Sensitivity analysis indicated that the results were relatively stable and reliable. Results of Begg's and Egger's tests suggested a lack of publication bias. Conclusions. Our meta-analysis demonstrated that DR was significantly associated with VDR gene FokI polymorphism. However, due to the relatively small sample size in this meta-analysis, further studies with a larger sample size should be done to confirm the findings.
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Polymorphisms in the vitamin D receptor gene and the lung cancer risk.
Fu, Y, Li, J, Zhang, Y
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2014;(2):1323-30
Abstract
The relationship between the vitamin D receptor (VDR) polymorphisms and the susceptibility to lung cancer remains unclear. The present meta-analysis was performed to estimate the polymorphisms of VDR and lung cancer risk. The pooled odds ratios (ORs) and corresponding 95 % confidence intervals (CIs) were calculated. Subgroup analysis by smoking status was carried out for further elucidation. The VDR BsmI polymorphism seemed to be negatively associated with the lung cancer risk (A vs. G, OR = 0.71, 95 % CI, 0.52-0.96; GA vs. GG, OR = 0.54, 95 % CI, 0.35-0.83; AA + GA vs. GG, OR = 0.55, 95 % CI, 0.36-0.84), particularly among the smokers (AA + GA vs. GG, OR = 0.39, 95 % CI, 0.21-0.72). The VDR ApaI variant genotypes did not alter the risk of lung cancer under all gene models in overall analysis. However, smokers carrying the variant G allele were more susceptible to lung cancer (G vs. T, OR = 1.60, 95 % CI, 1.14-2.25). The polymorphism of VDR TaqI was related to a decreased risk of lung cancer (C vs. T, OR = 0.62, 95 % CI, 0.26-1.46; CC vs. TT, OR = 0.44, 95 % CI, 0.21-0.91; TC vs. TT, OR = 0.58, 95 % CI, 0.38-0.90; CC + TC vs. TT, OR = 0.55, 95 % CI, 0.36-0.84). Besides, the CC + TC carriers in the smokers were at a significantly reduced risk of lung cancer (CC + TC vs. TT, OR = 0.48, 95 % CI, 0.16-1.44). The study supports that the polymorphisms of VDR BsmI and TaqI play protective roles in the lung carcinogenesis, particularly among the smokers. The association of VDR ApaI polymorphism with the lung cancer risk needs to be further elucidated.
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Association of vitamin D receptor gene polymorphisms with systemic lupus erythematosus: a meta-analysis.
Xiong, J, He, Z, Zeng, X, Zhang, Y, Hu, Z
Clinical and experimental rheumatology. 2014;(2):174-81
Abstract
OBJECTIVES Vitamin D receptor gene polymorphisms has been shown to be associated with systemic lupus erythematosus (SLE). Several studies have been published which have investigated the association between VDR gene polymorphisms with SLE risk, but the results have been inconclusive. The study was designed to investigate whether the vitamin D receptor gene polymorphisms are associated with the risk of SLE. METHODS A meta-analysis was conducted on associations between the vitamin D receptor gene polymorphisms and SLE using (1) allele contrast and (2) the recessive, (3) the dominant, and (4) the additive models. RESULTS A total of 11 case-control studies of 1683 patients and 1883 unrelated healthy individuals were included. The results of meta-analysis indicated that the BsmI and FokI polymorphisms are associated with increased risk of SLE. The overall ORs are 2.14 [95%CI (1.20-3.82), p=0.01] ( BB + Bb vs. bb) and 1.75 [95%CI(1.03-2.97), P=0.04]( FF + Ff vs. ff), respectively, while the ApaI and TaqI polymorphism were not associated. In subgroup analysis by ethnicity, the increased risk of SLE remained in the Asian subgroup for the BsmI and FokI polymorphism, whereas no significant association was found in other populations for other polymorphisms. CONCLUSIONS The current study suggested that the BsmI and FokI polymorphism are associated with increased risk of SLE, especially in the Asian population, but further studies are needed to confirm our results.
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Meta-analysis of the relation between vitamin D receptor gene BsmI polymorphism and susceptibility to ovarian cancer.
Zhang, Y, Tong, SC, Guan, LH, Na, F, Zhao, W, Wei, L
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2013;(6):3317-21
Abstract
The role of vitamin D receptor (VDR) BsmI polymorphism in ovarian cancer development has been studied in various populations, but those results are discordant controversial and ambiguous. Thus, we performed a meta-analysis to assess the association between VDR BsmI polymorphism and susceptibility to ovarian cancer more precisely. Odds ratio (OR) and its 95% confidence interval (95% CI) were used for statistical analysis. Nine individual studies with a total 2,331 cases and 3,301 controls were included into this meta-analysis. There was no heterogeneity among those nine studies. Meta-analysis of total nine studies suggested that there was no association between VDR BsmI polymorphism and susceptibility to ovarian cancer (B vs. b, OR = 1.02, 95% CI = 0.94-1.10, P = 0.616, I(2) = 0%; BB vs. bb, OR = 1.02, 95 % CI = 0.87-1.20, P = 0.810, I(2) = 0 %; BB/Bb vs. bb, OR = 1.05, 95% CI = 0.94-1.18, P = 0.391, I(2) = 0 %; BB vs. bb/Bb, OR = 0.99, 95% CI = 0.85-1.14, P = 0.853, I(2) = 0 %). Meta-analysis of seven studies from Caucasians also showed that there was no association between VDR BsmI polymorphism and susceptibility to ovarian cancer. This meta-analysis suggests that there is no association between VDR BsmI polymorphism and susceptibility to ovarian cancer in Caucasians. Future studies from Asians or Africans are needed to further assess the above association.