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EFFECTS OF VITAMIN D RECEPTOR GENE POLYMORPHISMS ON SUSCEPTIBILITY TO TYPE 1 DIABETES MELLITUS 被引量:8
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作者 Xin-hua Xiao Zhe-long Liu +4 位作者 Heng Wang Qi Sun Wen-hui Li Guo-hua Yang Qiu-ying Liu 《Chinese Medical Sciences Journal》 CAS CSCD 2006年第2期95-98,共4页
Objective To investigate the influence of vitamin D receptor (VDR) gene polymorphisms on susceptibility to type 1 diabetes mellitus (T1DM) in the Chinese Han population. Method One hundred and thirty-six Chinese ... Objective To investigate the influence of vitamin D receptor (VDR) gene polymorphisms on susceptibility to type 1 diabetes mellitus (T1DM) in the Chinese Han population. Method One hundred and thirty-six Chinese Han people, including 54 T1DM patients and 82 unrelated healthy subjects as control were genotyped by polymerase chain reaction-restriction fragment length polymorphism for three restriction sites in the VDR gene, which were ApaI, TaqI, and BamL Results The frequency of B allele of BsmI site in VDR gene was significantly higher in T1DM patients than in healthy subjects ( P = 0. 033 ) while no difference was found between the two groups in the distribution of ApaI and TaqI polymorphisms. Conclusion The BsmI polymorphism of VDR gene may be associated with the susceptibihty to T1DM in the Chinese Han population of Beijing. 展开更多
关键词 type 1 diabetes mellitus vitamin d receptor gene polymorphism
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Association of Vitamin D Receptor Gene Polymorphisms with Calcium Oxalate Calculus Disease
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作者 王少刚 刘继红 +1 位作者 胡少群 叶章群 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2003年第1期38-41,共4页
To study the relationship between polymorphism of vitamin D receptor (VDR) allele with formation of calcium oxalate calculus and find the predisposing genes of calcium oxalate calculus, we screened out 150 patients w... To study the relationship between polymorphism of vitamin D receptor (VDR) allele with formation of calcium oxalate calculus and find the predisposing genes of calcium oxalate calculus, we screened out 150 patients who suffered from calcium oxalate calculus. 36 of them had idiopathic hypercalciuria according to analysis of calculus component and assay of urine calcium. The polymorphisms of VDR gene Taq1, Apa1 and Fok1 were detected using PCR-RFLP technique and the correlation were analyzed between the polymorphism and urinary calculus or between the polymorphism and hypercalciuria. The difference in each genotypic frequency of the allele of promoter Fok1 between calculus group and healthy group or between idiopathic hypercalciuria calculus group and health group was significant. The content of 24-h urine calcium of those who had genotype ff was obviously higher than that of those who have other genotypes in the same group. There was no significant difference in the polymorphism of gene Apa1 and Taq1 between each two groups. It is concluded that hypercalciuria and calcium oxalate calculus were related to the polymorphism of VDR gene's promoter Fok1 allele, but it had nothing to do with the polymorphism of gene Apa1 and Taq1. The genotype ff was a candidate heredity marker of calcium calculus disease. 展开更多
关键词 gene polymorphism vitamin d receptor calcium oxalate calculus HYPERCALCIURIA
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Vitamin D receptor gene polymorphisms and hepatocellular carcinoma in alcoholic cirrhosis 被引量:14
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作者 Edmondo Falleti Davide Bitetto +9 位作者 Carlo Fabris Annarosa Cussigh Elisabetta Fontanini Ezio Fornasiere Elisa Fumolo Sara Bignulin Sara Cmet Rosalba Minisini Mario Pirisi Pierluigi Toniutto 《World Journal of Gastroenterology》 SCIE CAS CSCD 2010年第24期3016-3024,共9页
AIM: To assess the relationship between vitamin D re-ceptor (VDR) gene polymorphisms and the presence of hepatocellular carcinoma (HCC). METHODS: Two-hundred forty patients who underwent liver transplantation were stu... AIM: To assess the relationship between vitamin D re-ceptor (VDR) gene polymorphisms and the presence of hepatocellular carcinoma (HCC). METHODS: Two-hundred forty patients who underwent liver transplantation were studied. The etiologies of liver disease were hepatitis C (100 patients), hepatitis B (37) and alcoholic liver disease (103). A group of 236 healthy subjects served as controls. HCC in the explanted liver was detected in 80 patients. The following single nucle-otide gene polymorphisms of the VDR were investigatedby polymerase chain reaction and restriction fragment length polymorphism: FokI C>T (F/f), BsmI A>G (B/b), ApaI T>G (A/a) and TaqI T>C (T/t) (BAT). RESULTS: The frequencies of genotypes in patients without and with HCC were for FokI F/F = 69, F/f = 73, f/f = 18 and F/F = 36, F/f = 36, f/f = 8; BsmI b/b = 45, B/b = 87, B/B = 28 and b/b = 33, B/b = 35, B/B = 12; for ApaI A/A = 53, A/a = 85, a/a = 22 and A/A = 27, A/a = 38, a/a = 15; for TaqI T/T = 44, T/t = 88, t/t = 28 and T/T = 32, T/t = 38, t/t = 10. Carriage of the b/b genotype of BsmI and the T/T genotype of TaqI was signif icantly associated with HCC (45/160 vs 33/80, P < 0.05 and 44/160 vs 32/80, P < 0.05, respectively). The absence of the A-T-C protective allele of BAT was signif i-cantly associated with the presence of HCC (46/80 vs 68/160, P < 0.05). A strong association was observed between carriage of the BAT A-T-C and G-T-T haplotypes and HCC only in alcoholic liver disease (7/46 vs 12/36 vs 11/21, P < 0.002, respectively).CONCLUSION: VDR genetic polymorphisms are sig-nificantly associated with the occurrence of HCC in patients with liver cirrhosis. This relationship is more specific for patients with an alcoholic etiology. 展开更多
关键词 ALCOHOL Hepatocellular carcinoma Liver cirrhosis vitamin d receptor polymorphisms
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Vitamin D receptor gene polymorphisms and colorectal cancer risk:A systematic meta-analysis 被引量:7
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作者 Yong-Heng Bai Hong Lu, Dan Hong +2 位作者 Cheng-Cheng Lin Zhen Yu Bi-Cheng Chen 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第14期1672-1679,共8页
AIM:To investigate the relationship between polymorphisms present in the vitamin D receptor(VDR) gene and colorectal cancer risk,a systematic meta-analysis of population-based studies was performed.METHODS:A total of ... AIM:To investigate the relationship between polymorphisms present in the vitamin D receptor(VDR) gene and colorectal cancer risk,a systematic meta-analysis of population-based studies was performed.METHODS:A total of 38 relevant reports published between January 1990 and August 2010 were identified,of which only 23 qualified for this meta-analysis based on our selection criteria.Five polymorphic variants of the VDR gene,including Cdx-2(intron 1e) and FokI(exon 2) present in the 5' region of the gene,and BsmI(intron 8),ApaI(intron 8),and TaqI(exon 9) sites present in the 3' untranslated region(UTR),were evaluated for possible associations with colorectalcancer risk.Review manager 4.2 was used to perform statistical analyses.RESULTS:In the meta-analysis performed,only the BsmI polymorphism was found to be associated with colorectal cancer risk.In particular,the BsmI B genotype was found to be related to an overall decrease in the risk for colorectal cancer [BB vs bb:odds ratio(OR) = 0.87,95% CI:0.80-0.94,P = 3 × 10-4;BB vs Bb + bb:OR = 0.90,95% CI:0.84-0.97,P = 5 × 10-4].Moreover,in subgroup analyses,the BsmI B genotype was significantly associated with colon cancer,and not rectal cancer.An absence of between-study heterogeneity was also observed.CONCLUSION:A meta-analysis of 23 published studies identified the BsmI polymorphism of the VDR gene to be associated with an increased risk of colon cancer. 展开更多
关键词 vitamin d receptor polymorphism Metaanalysis Colorectal cancer
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Immunohistochemical evaluation of vitamin D receptor(VDR) expression in cutaneous melanoma tissues and four VDR gene polymorphisms 被引量:5
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作者 Francesco La Marra Giuseppe Stinco +4 位作者 Cinzia Buligan Giovanni Chiriacò Diego Serraino Carla Di Loreto Sabina Cauci 《Cancer Biology & Medicine》 SCIE CAS CSCD 2017年第2期162-175,共14页
Objective:Vitamin D receptor(VDR)mediates vitamin D activity.We examined whether VDR expression in excised melanoma tissues is associated with VDR gene(VDR)polymorphisms.Methods:We evaluated VDR protein expression(by ... Objective:Vitamin D receptor(VDR)mediates vitamin D activity.We examined whether VDR expression in excised melanoma tissues is associated with VDR gene(VDR)polymorphisms.Methods:We evaluated VDR protein expression(by monoclonal antibody immunostaining),melanoma characteristics,and carriage of VDR-Fok I-rs2228570(C>T),VDR-Bsm I-rs1544410(G>A),VDR-ApaI-rs7975232(T>G),and VDR-TaqI-rs731236(T>C)polymorphisms(by restriction fragment length polymorphism).Absence or presence of restriction site was denoted by a capital or lower letter,respectively:"F"and"f"for Fok I,"B"and"b"for Bsm I,"A"and"a"for ApaI,and "T"and"t"for TaqI endonuclease.Seventy-four Italian cutaneous primary melanomas(52.1±12.7 years old)were studied;51.4% were stage Ⅰ,21.6% stage Ⅱ ,13.5% stage Ⅲ,and 13.5% stage Ⅳ melanomas.VDR expression was categorized as follows:100% positive vs.<100%;over the median 20%(high VDR expression)vs.≤20%(low VDR expression);absence vs.presence of VDR-expressing cells.Results:Stage I melanomas,Breslow thickness of<1.00 mm,level II Clark invasion,Aa heterozygous genotype,and AaTT combined genotype were more frequent in melanomas with high vs.low VDR expression.Combined genotypes BbAA,bbAa,AATt,BbAATt,and bbAaTT were more frequent in 100%vs.<100%VDR-expressing cells.Combined genotype AATT was more frequent in melanomas lacking VDR expression(odds ratio=14.5;P=0.025).VDR expression was not associated with metastasis,ulceration,mitosis>1,regression,tumor-infiltrating lymphocytes,tumoral infiltration of vascular tissues,additional skin and non-skin cancers,and melanoma familiarity.Conclusions:We highlighted that VDR polymorphisms can affect VDR expression in excised melanoma cells.Low VDR expression in AATT carriers is a new finding that merits further study.VDR expression possibly poses implications for vitamin D supplementation against melanoma.VDR expression and VDR genotype may become precise medicinal tools for melanoma in the future. 展开更多
关键词 vitamin d receptor VdR protein expression VdR polymorphism cutaneous melanoma metastatic melanoma skin cancer predictive biomarkers FokI polymorphism
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Association between gene polymorphisms of vitamin D receptor and pulmonary tuberculosis susceptibility:a meta-analysis 被引量:2
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作者 Su Qian Ma Xiangyu +5 位作者 Lin Hui Li Ying Hu Daiyu Xiong Hongyan Xu Rufu Li Yafei 《Journal of Medical Colleges of PLA(China)》 CAS 2011年第2期63-75,共13页
The vitamin D receptor (VDR) gene is a primary candidate gene for tuberculosis susceptibility, but results of previous studies are somewhat contradictory and underpowered. Thus, it is essential to further explore th... The vitamin D receptor (VDR) gene is a primary candidate gene for tuberculosis susceptibility, but results of previous studies are somewhat contradictory and underpowered. Thus, it is essential to further explore the association between VDR gene polymorphisms and risk of pulmonary tuberculosis (PTB). Methods: A systematic review and meta-analysis about the association between Fok[, TaqI, Apal and Bsm[ polymorphisms and PTB susceptibility was conducted. Statistical Package for Social Science (Version 13.0) and Review Manager (Version 4.2, The Cochrane Collaboration) were used to analyze the data reported in studies. Results: A total of 13 studies with 2 262 cases and 2 833 controls were involved in the FokI polymorphism, and the results showed FokI polymorphism was associated with PTB susceptibility (allele f vs F: OR=1.12, 95% CI=[1.02, 1.23]; the additive effect model ff vs FF: OR=1.40, 95%CI=[1.10, 1.77]; the recessive genetic model firs Ff+FF: OR=1.39, 95%CI=[1.12, 1.71]). No significant associations were observed between TaqI (15 studies with 3 031 cases and 3 132 controls), ApaI (7 studies with 1 495 cases and 1 922 controls), BsmI (6 studies with 919 cases and 1 250 controls) variants and PTB susceptibility. Conclusion: We found variant Fokl polymorphism of VDR gene may play a risky role in PTB development, and the genetic model was presumed to be recessive. 展开更多
关键词 vitamin d receptor Pulmonary tuberculosis polymorphism META-ANALYSIS
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Association of Vitamin D Receptor Gene Polymorphisms with Metabolic Syndrome in Rural Areas of China 被引量:1
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作者 WANG Jun WANG Yan +4 位作者 HAN Han WANG Teng SHEN Fang LI Wen Jie LI Xing 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2019年第4期304-308,共5页
Metabolic Syndrome (MS) is a combination of multiple complex diseases, whose etiology is complicated and has many influencing factors Randomized controlled trials have shown that vitamin D supplementation could delay ... Metabolic Syndrome (MS) is a combination of multiple complex diseases, whose etiology is complicated and has many influencing factors Randomized controlled trials have shown that vitamin D supplementation could delay the ameliorate symptoms of multiple chronic disease Therefore, it is reasonable to postulate that the expression levels of vitamin D and its related gene variants might be correlated with MS. 展开更多
关键词 vitamin d receptor gene polymorphismS
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Study of Vitamin D Receptor (VDR) Gene Polymorphisms among Egyptian Cohort Patients with Different Stages of Colorectal Cancer
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作者 Mohamed M. Rizk Nermine H. Zakaria Waleed G. Elshazely 《Journal of Cancer Therapy》 2014年第3期253-263,共11页
Colorectal cancer represents the third cancer worldwide. Studies showed thatinsufficient levels of vitamin D may result in colorectal cancer. Genetic variations in genes controlling vitamin D activity would play a rol... Colorectal cancer represents the third cancer worldwide. Studies showed thatinsufficient levels of vitamin D may result in colorectal cancer. Genetic variations in genes controlling vitamin D activity would play a role in determining susceptibility to colorectal cancer. Aim of the work: to study the different genotypes of VDR polymorphisms and detect the association between serum levels of 25(OH)VitD and 1,25(OH)2VitD among sample of Egyptian patients with different stages of colorectal cancer. Methods: Ninety patients (60 with different stages of colorectal cancer and 30 patients with benign pathology of the colon) together with 30 healthy controls were examined using PCR-RFLP analysis for FokI, ApaI and TaqI polymorphisms. Results: Genotype distribution for ApaI polymorphism showed no statistically significant difference between patients (colorectal cancer and benign) and controls with p = 0.1. There was no statistically significant difference in FokI polymorphism where p = 0.26 and genotype distribution for TaqI was also insignificant with p = 0.016. The median serum level of 25(OH)VitD was low in cancer cases compared to the control group and benign cases with (p 0.001). There was no statisticallysignificant difference of median serum level of 1,25(OH)2VitD between benign and cancer cases. There was statistically significant difference of median serum level of 25(OH)VitD and 1,25(OH)2VitD between stage I and stage II with (p = 0.004) and (p 0.001), and between stage I and stage III with (p = 0.001)and (p 0.001), but no statistically significant difference between stage II and III with (p = 0.514). Conclusions: There is ethnic variability in vitamin D receptor gene polymorphisms. The lack of significant association of the studied gene polymorphism in our population suggests that its association with other functionally known gene polymorphism might have a role in the pathogenesis of colorectal cancer. 展开更多
关键词 vitamin d receptor (VdR) COLORECTAL Cancer (CRC) PCR-RFLP (polymorphism)
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Association between vitamin D receptor gene polymorphism and prognosis in patients with end stage renal disease undergoing dialysis
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作者 Zheng-Xiu Zhang Hong-Bin He Ying-Juan Zhang 《Journal of Hainan Medical University》 2019年第23期30-34,共5页
Objective:To investigate the relationship between vitamin D receptor gene polymorphism and prognosis in patients with end stage renal disease(ESRD)undergoing dialysis.Methods:80 patients with ESRD who underwent regula... Objective:To investigate the relationship between vitamin D receptor gene polymorphism and prognosis in patients with end stage renal disease(ESRD)undergoing dialysis.Methods:80 patients with ESRD who underwent regular hemodialysis in our hospital were admitted from January 2016 to June 2016,and 80 healthy volunteers from our hospital were collected as control group during the same period.The polymorphisms of rs1544410(BsmI)of vitamin D receptor gene were identified by peripheral blood DNA amplification and specific enzyme digestion,including wild type GG(bb)and mutant GA(Bb)and AA(BB).Then analyze and compare the distribution of BsmI in patients with ESRD and normal volunteers,further analyze the correlation between BsmI locus and clinical characteristics of patients with ESRD,and analyze the relationship between BsmI locus and prognosis of patients with ESRD according to the follow-up results of patients.Results:The incidence of wild type(bb)of vitamin D receptor BsmI locus in patients with ESRD was significantly lower than that in the control group,while the incidence of mutant type(Bb and BB)was higher than that in the control group,with an advantage ratio of 1.378(P=0.004).The allele frequency of BsmI locus showed that the incidence of A-base in patients with ESRD was higher than that in control group,with an advantage ratio of 1.368(P=0.010).Comparing the genotype and clinical characteristics of BsmI locus in patients with ESRD,it was found that there were no differences in age,sex ratio between men and women,BMI,hypertension,diabetes,LDL,HDL,TG,urea nitrogen,creatinine,calcium,phosphorus,albumin and vitamin D levels among different genotypes.One year after treatment,the survival rate of bb group was significantly higher than that of Bb group and BB group(P=0.006).K-M analysis showed that the median survival time of BB group was 20 months,that of BB group was 8 months,and that of BB group was 4 months(P=0.000).Conclusion:There is a high mutation rate of BsmI locus(GA,AA type)in patients with ESRD,that is,the mutation rate of G-base to A is higher,and the survival time of patients with mutation is significantly shortened. 展开更多
关键词 ESRd vitamin d receptor gene polymorphism BSMI dIALYSIS PROGNOSIS
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Polymorphisms of the Vitamin D Receptor Gene and SexDifferential Associations with Lipid Profiles in Chinese Han Adults 被引量:1
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作者 CHEN Yan Mei XU Ping +5 位作者 WANG Zhou Tian ZHU Yu Mei GONG Chun Mei HUANG Chang Hua LIU Xiao Li ZHOU Ji Chang 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2022年第2期115-125,共11页
Objective To explore the association of single nucleotide polymorphisms(SNPs)of the vitamin D receptor gene(VDR)with circulating lipids considering gender differences.Methods Of the Han Chinese adults recruited from a... Objective To explore the association of single nucleotide polymorphisms(SNPs)of the vitamin D receptor gene(VDR)with circulating lipids considering gender differences.Methods Of the Han Chinese adults recruited from a health examination center for inclusion in the study,the circulating lipids,25-hydroxyvitamin D(25OHD),and other parameters were measured.The VDR SNPs of Cdx2(rs11568820),Fok1(rs2228570),Apa1(rs7975232),and Taq1(rs731236)were genotyped with a qPCR test using blood DNA samples,and their associations with lipids were analyzed using logistic regression.Results In the female participants(n=236 with dyslipidemia and 888 without dyslipidemia),multiple genotype models of Fok1 indicated a positive correlation of B(not A)alleles with LDLC level(P<0.05).In the male participants(n=299 with dyslipidemia and 564 without dyslipidemia),the recessive model of Cdx2 and the additive and recessive models of Fok1 differed(P<0.05)between the HDLC-classified subgroups,respectively,and Fok1 BB and Cdx2 TT presented interactions with 25OHD in the negative associations with HDLC(P<0.05).Conclusion In the Chinese Han adults included in the study,the Fok1 B-allele of VDR was associated with higher LDLC in females,and the Fok1 B-allele and the Cdx2 T-allele of VDR were associated with lower HDLC in males.The interaction of VD and Fok1 BB or Cdx2 TT in males synergistically decreased HDLC levels. 展开更多
关键词 vitamin d vitamin d receptor gene polymorphism LIPId dYSLIPIdEMIA
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Association of single nucleotide polymorphism of vitamin D receptor gene start codon and the suscepbility to prostate cancer in Han nationality in Hubei, China 被引量:2
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作者 YiYang Shao-GangWang Zhang-QunYe Wei-MinYang 《Asian Journal of Andrology》 SCIE CAS CSCD 2004年第3期248-248,共1页
Aim: To investigate the single nucleotide polymorphism of vitamin D receptor (VDR) gene start codon in the Han nationality in Hubei and its relationship to the susceptibility to prostate cancel (PCa). Methods: The VDR... Aim: To investigate the single nucleotide polymorphism of vitamin D receptor (VDR) gene start codon in the Han nationality in Hubei and its relationship to the susceptibility to prostate cancel (PCa). Methods: The VDR genotypes were determined by poly-merase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 80 patients with PCa and 96 normal male controls from the Han nationality in Hubei, using endonuclease Fok. Direct sequencing was done in part of the PCR products. Results: The frequency distribution of Fok I alleles in this cohort all followed the Hardy-Weinberg equilibrium. The distribution of genotypes and alleles had no significant difference between PCa patients and the controls (P>0.05). Conclusion: There was no significant relationship between Fok I polymorphism of VDR gene start codon and PCa in the Han nationality in Hubei. 展开更多
关键词 prostate cancer vitamin d receptor gene start codon single nucleotide polymorphism Han nationality
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Vitamin D receptor gene Tru9I polymorphism and risk for incidental sporadic colorectal adenomas 被引量:1
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作者 You-Ling Gong Da-Wen Xie +4 位作者 Zong-Lin Deng Roberd M Bostick Xi-Jiang Miao Jin-Hui Zhang Zhi-Hong Gong 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第31期4794-4799,共6页
AIM: Recent laboratory and epidemiological studies suggest that vitamin D is a potential agent for colorectal cancer prevention. Its function is partially mediated by the vitamin D receptor (VDR). The aim of this s... AIM: Recent laboratory and epidemiological studies suggest that vitamin D is a potential agent for colorectal cancer prevention. Its function is partially mediated by the vitamin D receptor (VDR). The aim of this study was to investigate whether a novel G (allele ‘U’g〉A (allele ‘u’ polymorphism (Tru9I) in the VDR intron 8 region is associated with risk for colorectal adenoma in a colonoscopy-based case-control study. METHODS: Genotyping for a total of 391 subjects was carried out through PCR and restriction fragment length polymorphism. RESULTS: The frequencies of ‘U’ and ‘u’ alleles were 89.3% and 10.7%, respectively. The ‘Uu’ and ‘uu’ genotypes were associated with decreased risk for adenoma (OR, 0.71; 95%CI, 0.40-1.25). The inverse association was more pronounced for multiple adenomas and adenomas that were larger had moderate or greater dysplasia, or were sessile: the odds ratios (ORs) were, 0.51 (95%CI, 0.21-1.24), 0.37 (95%CI, 0.11-1.28), 0.68 (95%CI, 0.33- 1.41), and 0.36 (95%CI, 0.13-0.97) respectively. In joint/ combined analyses, inverse associations were more obvious among those who had at least one ‘u’ allele and also were younger (OR, 0.60; 95%CI, 0.26-1.37), women (OR, 0.38; 95%CI, 0.17-0.88), did not smoke (OR, 0.39; 95%CI, 0.13-1.23), or took NSAID (OR, 0.38; 95%CI, 0.12-1.25), but no evidence existed for interactions with calcium or vitamin D intake.CONCLUSION: Our findings suggest that the VDR TrugI polymorphism may be associated with lower risk for colorectal adenoma, particularly in interaction with various risk factors, but not with calcium or vitamin D. 展开更多
关键词 Case-control study Colorectal adenoma Colorectal neoplasia vitamin d receptor genetic polymorphism
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Bsm I(rs1544410) and Fok I(rs2228570) vitamin D receptor polymorphisms, smoking, and body mass index as risk factors of cutaneous malignant melanoma in northeast Italy 被引量:3
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作者 Sabina Cauci Vincenzo Maione +3 位作者 Cinzia Buligan Martina Linussio Diego Serraino Giuseppe Stinco 《Cancer Biology & Medicine》 SCIE CAS CSCD 2017年第3期302-318,共17页
Objective:To investigate whether vitamin D receptor gene(VDR)Bsm I-rs1544410 and Fok I-rs2228570 polymorphisms,smoking duration,and body mass index(BMI)are risk factors for cutaneous melanoma,especially metastatic mel... Objective:To investigate whether vitamin D receptor gene(VDR)Bsm I-rs1544410 and Fok I-rs2228570 polymorphisms,smoking duration,and body mass index(BMI)are risk factors for cutaneous melanoma,especially metastatic melanoma.Methods:We studied 120 cutaneous melanoma cases[68 stage I and II non-metastatic melanoma(NMet M)patients,plus 52Stage III and IV metastatic melanoma(Met M)patients],and 120 matching healthy controls from northeast Italy.VDR polymorphisms were measured by restriction fragment length polymorphism analysis.Absence or presence of Bsm I and Fok I restriction sites was denoted by"B"and"F"or by"b"and"f,"respectively.Results:VDR-Bsm I bb genotype was more frequent among Met M(32.7%)than among NMet M cases(13.2%),with odds ratio(OR)=3.18.Comparison of all melanoma patients vs healthy controls showed that the following biomarkers were at risk:≥20 years of smoking(OR=2.43);≥20 years of smoking combined with bb(OR=4.78),Bb+bb(OR=2.30),Ff(OR=3.04),and Ff+ff(OR=3.08);obesity(BMI>30Conclusions:Risk factors for cutaneous Met M include two VDR polymorphisms combined with smoking duration and obesity.Results suggest gene-environment implications in melanoma susceptibility and severity.Future studies in larger cohorts and in subjects with different genetic background are warranted to extend our findings. 展开更多
关键词 vitamin d receptor VdR polymorphism cutaneous melanoma metastatic melanoma SMOKING body mass index obesity skin cancer
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Plasma Vitamin D Levels And Vitamin D Receptor Polymorphisms Are Associated with Survival of Non-small Cell Lung Cancer 被引量:1
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作者 Yao Liu Wei Chen +7 位作者 Zhi-bin Hu Lin Xu Yong-qian Shu Shi-yang Pan Jun-cheng Dai Guang-fu Jin Hong-xia Ma Hong-bing shen 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 2011年第1期33-37,共5页
Objective:Vitamin D and its receptor(VDR) involve in multiple cellular processes and play an important role in the initiation and progression of malignancy.Thus we hypothesized that plasma vitamin D levels and sing... Objective:Vitamin D and its receptor(VDR) involve in multiple cellular processes and play an important role in the initiation and progression of malignancy.Thus we hypothesized that plasma vitamin D levels and single nucleotide polymorphisms(SNPs) in VDR may be of prognostic significance in non-small cell lung cancer(NSCLC).Methods:We examined plasma 25-hydroxyvitamin D [25(OH)D] levels in 87 patients diagnosed with NSCLC using enzyme-linked immunosorbent assay(ELISA) and genotyped seven potentially functional SNPs in VDR in 568 NSCLC patients on Illumina Golden Gate platform.Results:Patients with higher plasma 25(OH)D levels had worse survival than patients with lower ones(P for trend = 0.048).The SNPs of rs1544410 and rs739837 were independently associated with NSCLC survival(adjusted HR = 1.61,95% CIs = 1.06-2.45 for rs739837 AA vs AC/CC and adjusted HR = 1.51,95% CIs = 1.06-2.16 for rs1544410 AG/AA vs GG).A joint effect was observed between rs1544410 and rs739837 and the risk of death elevated as the number of unfavourable genotypes patients carried increased(P for trend = 0.003).There were no significant associations between VDR polymorphisms and plasma 25(OH)D levels.Conclusion:Our findings indicate that plasma 25(OH)D levels and genetic variants of VDR may serve as prognostic markers for NSCLC in this Chinese population. 展开更多
关键词 vitamin d receptor polymorphisms Non-small cell lung cancer Chinese population PROGNOSIS
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Association of vitamin D receptor gene polymorphism(VDR)with vitamin D deficiency,metabolic and inflammatory markers in Egyptian obese women 被引量:3
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作者 Moushira Zaki Sanaa Kamal +4 位作者 Walaa ABasha Eman Youness Wafaa Ezzat Hala El-Bassyouni Khalda Amr 《Genes & Diseases》 SCIE 2017年第3期176-182,共7页
Vitamin D deficiency might contribute to the pathogenesis of metabolic syndrome and could cause immune disturbance.The aim of this study is to analyze the associations between Vitamin D receptor(VDR)gene polymorphism,... Vitamin D deficiency might contribute to the pathogenesis of metabolic syndrome and could cause immune disturbance.The aim of this study is to analyze the associations between Vitamin D receptor(VDR)gene polymorphism,serum 25-hydroxy vitamin D,metabolic and inflammatory biomarkers in Egyptian obese women.The study included 201 obese women with vitamin D deficiency and 249 obese matched age healthy controls with sufficient vitamin D levels.Their age ranged between 25 and 35 years.Inflammatory biomarkers(interleukin-6 and C-reactive protein)and serum 25(OH)D were measured by enzyme-linked immunosorbent assay.Insulin resistance(IR)was determined by the homeostasis model assessment of insulin resistance(HOMA-IR).Vitamin D receptor(VDR)gene polymorphisms of FokI,ApaI,and TaqI were studied by PCR using the restriction fragment length polymorphism(RFLP)technique.Obese women with vitamin D deficiency had significant higher values of inflammatory and metabolic parameters compared to controls.Multivariable-logistic regression showed associations between 25(OH)D deficiency and metabolic components when comparing cases with controls.Moreover,cases carrying polymorphic alleles showed significant lower levels of serum 25(OH)D and higher HOMA-IR,blood pressure levels and lipid parameters compared to those with the wild type homozygote in obese cases with vitamin D deficiency.Vitamin D deficiency in Egyptian obese women with vitamin D deficiency is associated with abnormal metabolic components and abnormal inflammatory biomarkers.Moreover,VDR polymorphisms play important role in immune and inflammation status. 展开更多
关键词 Inflammatory biomarkers Obese women vitamin d deficiency vitamin d receptor(VdR)gene polymorphism EGYPTIAN
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The relationships of vitamin D, vitamin D receptor gene polymorphisms, and vitamin D supplementation with Parkinson's disease 被引量:7
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作者 Lingling Lv Xuling Tan +6 位作者 Xinke Peng Rongrong Bai Qile Xiao Ting Zou Jieqiong Tan Hainan Zhang Chunyu Wang 《Translational Neurodegeneration》 SCIE CAS 2020年第3期437-449,共13页
In recent years,many studies have investigated the correlations between Parkinson's disease(PD)and vitamin D status,but the conclusion remains elusive.The present review focuses on the associations between PD and ... In recent years,many studies have investigated the correlations between Parkinson's disease(PD)and vitamin D status,but the conclusion remains elusive.The present review focuses on the associations between PD and serum vitamin D levels by reviewing studies on the associations of PD with serum vitamin D levels and vitamin D receptor(VDR)gene polymorphisms from PubMed,Web of Science,Cochrane Library,and Embase databases.We found that PD patients have lower vitamin D levels than healthy controls and that the vitamin D concentrations are negatively correlated with PD risk and severity.Furthermore,higher vitamin D concentrations are linked to better cognitive function and mood in PD patients.Findings on the relationship between VDR gene polymorphisms and the risk of PD are inconsistent,but the Fokl(C/M)polymorphism is significantly linked with PD.The occurrence of Fokl(CT)gene polymorphism may influence the risk,severity,and cognitive ability of PD patients,while also possibly influencing the effect of Vitamin D3 supplementation in PD patients.In view of the neuroprotective effects of vitamin D and the close association between vitamin D and dopaminergic neurotransmission,interventional prospective studies on vitamin D supplementation in PD patients should be conducted in the future. 展开更多
关键词 Parkinson's disease vitamin d VdR gene polymorphisms vitamin d3 supplementation NEUROPROTECTIVE dopaminergic neurotransmission
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Maternal vitamin D level and vitamin D receptor gene polymorphism as a risk factor for congenital heart diseases in offspring;An Egyptian case-control study 被引量:2
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作者 Wesam A.Mokhtar Amal Fawzy +2 位作者 Reem M.Allam Rania M.Amer Mona S.Hamed 《Genes & Diseases》 SCIE 2019年第2期193-200,共8页
Vitamin D&vitamin D receptor(VDR)signaling play a very crucial role in early embryonic heart development.We construct this case-control study to investigate the association between maternal serum vitamin D level&a... Vitamin D&vitamin D receptor(VDR)signaling play a very crucial role in early embryonic heart development.We construct this case-control study to investigate the association between maternal serum vitamin D level&VDR gene Fok1 polymorphism and risk of congenital heart defects(CHD)in offspring.Fifty mothers who had term neonates with CHD were considered as cases.Fifty age-comparable healthy mothers who had neonates without CHD were contemplated as controls.Maternal serum 25 hydroxyvitamin D[25(OH)D]level was tested using ELISA.Maternal VDR gene Fok1 polymorphism was analyzed using PCR-based RFLP-assay.There was a significant decrease in maternal vitamin D level(P=0.002)and a significant increase in vitamin D deficient status(P=0.007)among cases when compared to controls.VDR gene Fok1 genotypes distribution frequency were in accordance with Hardy Weinberg equilibrium(HW)among controls.A significant increase in VDR gene Fok1 F/f&f/f genotypes and f allele were observed in cases compared to controls with estimated odds ratio(95%confidence interval)&P-value of 3(1e8)&P=0.006,11(1e97)&P=0.01 and 3(2e6)&P=0.001 respectively.There was a significant decrease in maternal vitamin D level in neonates with cyanotic CHD(P=0.000)compared to those with a cyanotic CHD while there was no significant difference in VDR Fok1 genotype(P=0.18)&allele(P=0.05)distribution between two groups.We concluded that maternal vitamin D deficiency and VDR gene Fok1 F/f,f/f genotype and f allele were associated with increased risk of CHD in offspring. 展开更多
关键词 Congenital heart disease FoK1 polymorphism vitamin d vitamin d receptor gene Maternal vitamin d
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Relationship between vitamin D binding protein gene polymorphism and allergic rhinitis in Hainan population
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作者 Sai-Ming Chen Jing Huang +5 位作者 Xiao-Liu Zhou Zhi-Qun Li Jin-Lei Sui Jing-Jing Lu Fu-Rong Zhu Li-Min Zhou 《Journal of Hainan Medical University》 2018年第22期80-82,共3页
Objective: To explore the correlation between the genetic polymorphism of vitamin D binding protein gene (GC) and allergic rhinitis in Hainan population. Methods: 94 cases of patients with allergic rhinitis (AR) who v... Objective: To explore the correlation between the genetic polymorphism of vitamin D binding protein gene (GC) and allergic rhinitis in Hainan population. Methods: 94 cases of patients with allergic rhinitis (AR) who visit a hospital between March 2017 and December 2017 and 113 cases of healthy controls specimen (HCs) were chosen for the research. We analyzed the 222016 and rs7041 polymorphism in the vitamin D-binding protein gene (GC) by snapshot method. Four kinds of hereditary models including co-dominant, dominant, recessive and super dominant were used to identify the significant SNPs by the online analysis software SNPStats. The statistical analysis was done by SPSS25.0. Results: As rs7041 polymorphisms loci is mentioned, the frequency of TT, GT and GG genotypes of in CR group and HC group is 40.4% VS 42.5%, 44.7% VS 42.5%, 14.9% VS 15%, respectively. Statistical analysis showed that there was no significant difference between the two groups. Three genotype were detected for rs222016 loci which is AG, GG and AA. The frequency of AG, GG and AA in CR group and HCs group is 44.8% VS 40.7%, 12.8% VS 25.7% and 40.4% VS 33.6%, with a P value of 0.062, which is close to significance. The frequency of allele G for rs222016 in the HC group was significantly higher than that in the CR group. Conclusion: There was no significant correlation between the polymorphism of rs7041 and the incidence of allergic rhinitis in Hainan population, and GG genotype and allele G of rs222016 loci was likely to be a protective factor from allergic rhinitis in Hainan. 展开更多
关键词 vitamin d gene polymorphism ALLERGIC RHINITIS
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Vitamin D receptor genetic polymorphisms and tuberculosis among Chinese Han ethnic group 被引量:4
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作者 CAO Shang LUO Peng-fei LI Wei TANG Wan-qin CONG Xiao-na WEI Ping-min 《Chinese Medical Journal》 SCIE CAS CSCD 2012年第5期920-925,共6页
Background In epidemiological studies, tuberculosis (TB) appears intimately with vitamin D insufficiency whereas its relationship with vitamin D receptor (VDR) polymorphism caused by radical difference remains uns... Background In epidemiological studies, tuberculosis (TB) appears intimately with vitamin D insufficiency whereas its relationship with vitamin D receptor (VDR) polymorphism caused by radical difference remains unspecified. This study aimed to investigate the relationship between vitamin D genetic polymorphism and tuberculosis in Han ethnic group. 展开更多
关键词 vitamin d receptor TUBERCULOSIS polymorphism SUSCEPTIBILITY meta-analysis
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Vitamin D Receptor(VDR) Genetic Polymorphisms Associated with Intervertebral Disc Degeneration 被引量:2
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作者 Yongchao Li Jiajun Zhu +1 位作者 Chunhua Gao Baogan Peng 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2015年第4期135-140,共6页
Intervertebral disc degeneration (IDD) is characterized by disc dehydration and herniation, which is often associated with low back pain and lumbar radiculopathy due to nerve root compression or inflammation. The pa... Intervertebral disc degeneration (IDD) is characterized by disc dehydration and herniation, which is often associated with low back pain and lumbar radiculopathy due to nerve root compression or inflammation. The pathophysiology of IDD is not completely elucidated so far. Some researchers have indicated that disc degeneration begins as early as the second decade of life (Mayer et al., 2013). Common risk factors are considered to associate with age, gender, smoking history, occupation, disc injury, and biomechanical factors. However, some epidemiologic studies highlighted that disc degeneration may be caused to a large degree by hereditary factors with apparently a relatively minor effects of environmental and behavioral risk factors (Videman et al., 1998; Cheung et al., 2006; Eser et al., 2010; Mayer et al., 2013; Vieira et al., 2014), which indicated that genetic factors might play an important role in the pathogenesis of IDD. 展开更多
关键词 VdR gene Idd vitamin d receptor genetic polymorphisms Associated with Intervertebral disc degeneration
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