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
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
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
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
There have been few studies on the association between vitamin D levels and gastric cancer in Asian populations,but no studies have been performed on the interactions between vitamin D intake and polymorphisms in the ...There have been few studies on the association between vitamin D levels and gastric cancer in Asian populations,but no studies have been performed on the interactions between vitamin D intake and polymorphisms in the vitamin D pathway.The effects of vitamin D intake,vitamin D related genetic polymorphisms,and their association with the incidence of gastric cancer were investigated in a hospital case-control study,including 715 pairs of newly diagnosed gastric cancer patients and controls matched for age and sex.Correlations between vitamin D intake and plasma vitamin D concentrations were also assessed in a subset of subjects.No statistically significant difference was observed in the dietary intake of vitamin D between the patients and controls,nor were there any evident associations between vitamin D intake and risk of gastric cancer in multivariate analyses.Vitamin D intake significantly correlated with the circulating 25-hydroxyvitamin D levels,but not with the active form of the vitamin,1,25-dihydroxyvitamin D.There were no statistically significant interactions between vitamin D intake,and VDR or TXNIP polymorphisms.This study suggests that dietary vitamin D intake is not associated with gastric cancer risk,and the genetic polymorphisms of vitamin D-related genes do not modulate the effect of vitamin D with respect to gastric carcinogenesis.展开更多
目的:探讨维生素D受体(VDR)基因FOKI位点多态性与子痫前期(PE)遗传易感性的关系。方法:计算机检索中国知网(CNKI)、万方、维普、中国生物医学文献数据库、PubMed、Web of Science中关于VDR基因FOKI位点多态性与PE易感性的病例对照研究,...目的:探讨维生素D受体(VDR)基因FOKI位点多态性与子痫前期(PE)遗传易感性的关系。方法:计算机检索中国知网(CNKI)、万方、维普、中国生物医学文献数据库、PubMed、Web of Science中关于VDR基因FOKI位点多态性与PE易感性的病例对照研究,检索时间为建库至2023年5月。在等位基因模型(f比F)、纯合比较模型(ff比FF)、杂合比较模型(Ff比FF)、显性比较模型(Ff+ff比FF)和隐性比较模型(ff比FF+Ff)5种遗传模型下,采用Stata11.0软件进行meta分析,并用OR值及95%可信区间(95%CI)评价VDR基因FOKI位点多态性与PE易感性之间的关联。结果:共纳入8篇文献,包括3446例研究对象。meta分析结果显示,在等位基因模型(f比F,OR=1.49,95%CI 1.08~2.05)、纯合比较模型(ff比FF,OR=1.80,95%CI 1.11~2.93)、隐性比较模型(ff比FF+Ff,OR=1.95,95%CI 1.39~2.73)下,VDR基因FOKI位点多态性与PE遗传易感性密切相关,而在杂合比较模型(Ff比FF)和显性比较模型(Ff+ff比FF)下,差异无统计学意义。结论:VDR基因FOKI位点可能与PE易感性有关,f等位基因和ff基因型可能是PE发生的危险因素。展开更多
Objective:To investigate the relationship between the rs9729,rs11574129,BsmI(rs1544410),TaqI(rs731236)and DdeI(rs3782905)polymorphisms of the vitamin D receptor(VDR)gene and kidney stone formation in a study group fro...Objective:To investigate the relationship between the rs9729,rs11574129,BsmI(rs1544410),TaqI(rs731236)and DdeI(rs3782905)polymorphisms of the vitamin D receptor(VDR)gene and kidney stone formation in a study group from Guangxi.Methods:A hospital-based casecontrol study including 890patients with kidney stone formation and 822age-and sex-matched controls without stone formation was conducted.Five single-nucleotide polymorphisms(SNPs)of the VDR gene were studied using SNPscanTMhighthroughput SNP classification assays.Results:The T allele variant of rs9729significantly increased the risk of kidney stone formation(P=0.021).In particular,a significantly increased risk of kidney stone formation was found in the combined genotypes TG/TT of rs9729compared with the wild GG genotype after covariate adjustment.However,after gender stratification analysis,compared with the wild GG genotype,the GT,TT and GT/TT genotypes of rs9729increased the risk of kidney stone formation in males.Moreover,the GA and GA/GG genotypes of rs11574129 were associated with increased risk of kidney stone formation in males.By contrast,the GC and GC/CC genotypes of DdeI(rs3782905)significantly decreased the risk of kidney stone formation in males.Haplotype analysis suggested that the five-locus polymorphism of VDR was significantly related to kidney stone formation in male participants(P=0.0025).Conclusion:TheT allele variant of the rs9729polymorphism of the VDR gene was significantly related to the risk of kidney stone formation.Gender may affect the association between the rs9729,rs11574129and DdeI polymorphisms of the VDR gene and the risk of kidney stone formation in the Chinese population.展开更多
文摘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.
基金This project was supported by the National Natural ScienceFoundation of China ( Serial No:3 0 2 0 0 2 83 )
文摘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.
文摘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.
基金This work was supported by grant from National Research Centre,Egypt(16361).
文摘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.
基金supported by the National Research Foundation of Korea Grantfunded by the Korean Government(Ministry of Education,Science and Technology)[NRF-355-2010-1-E00026 and 2012R1-A1A2044765]
文摘There have been few studies on the association between vitamin D levels and gastric cancer in Asian populations,but no studies have been performed on the interactions between vitamin D intake and polymorphisms in the vitamin D pathway.The effects of vitamin D intake,vitamin D related genetic polymorphisms,and their association with the incidence of gastric cancer were investigated in a hospital case-control study,including 715 pairs of newly diagnosed gastric cancer patients and controls matched for age and sex.Correlations between vitamin D intake and plasma vitamin D concentrations were also assessed in a subset of subjects.No statistically significant difference was observed in the dietary intake of vitamin D between the patients and controls,nor were there any evident associations between vitamin D intake and risk of gastric cancer in multivariate analyses.Vitamin D intake significantly correlated with the circulating 25-hydroxyvitamin D levels,but not with the active form of the vitamin,1,25-dihydroxyvitamin D.There were no statistically significant interactions between vitamin D intake,and VDR or TXNIP polymorphisms.This study suggests that dietary vitamin D intake is not associated with gastric cancer risk,and the genetic polymorphisms of vitamin D-related genes do not modulate the effect of vitamin D with respect to gastric carcinogenesis.
文摘骨质疏松症(osteoporosis, OP)是一种随年龄增加患病率不断提高的全球性骨骼疾病,主要受遗传因素与环境因素双重作用的控制,它所引起的最恶性的结果是出现骨质疏松性骨折,危害老年群体的身心健康,增加此人群的死亡风险。维生素D受体(Vitamin D receptor, VDR)基因在调节骨代谢和调控钙稳态方面发挥至关重要的作用。迄今为止,有许多研究对VDR基因多态性和OP之间的联系进行了探究,但研究结果往往具有较大争议。因此,该文以探究亚洲人群VDR基因多态性与发生OP的联系为目的,从ApaⅠ位点多态性、BsmⅠ位点多态性、TaqⅠ位点多态性以及FokⅠ位点多态性与OP相关性4个方面作综述,并根据国内外各研究结果以及相关位点的位置特征进行总结,对进一步研究进行展望,以期为如何筛查亚洲OP易感人群及制定相关预防、治疗OP的策略提供思路。
基金supported by grants from National Natural Science Foundation of China (No.81770759)the Guangxi Natural Science Foundation for Innovation Research Team (No.2013GXNSFFA019002)
文摘Objective:To investigate the relationship between the rs9729,rs11574129,BsmI(rs1544410),TaqI(rs731236)and DdeI(rs3782905)polymorphisms of the vitamin D receptor(VDR)gene and kidney stone formation in a study group from Guangxi.Methods:A hospital-based casecontrol study including 890patients with kidney stone formation and 822age-and sex-matched controls without stone formation was conducted.Five single-nucleotide polymorphisms(SNPs)of the VDR gene were studied using SNPscanTMhighthroughput SNP classification assays.Results:The T allele variant of rs9729significantly increased the risk of kidney stone formation(P=0.021).In particular,a significantly increased risk of kidney stone formation was found in the combined genotypes TG/TT of rs9729compared with the wild GG genotype after covariate adjustment.However,after gender stratification analysis,compared with the wild GG genotype,the GT,TT and GT/TT genotypes of rs9729increased the risk of kidney stone formation in males.Moreover,the GA and GA/GG genotypes of rs11574129 were associated with increased risk of kidney stone formation in males.By contrast,the GC and GC/CC genotypes of DdeI(rs3782905)significantly decreased the risk of kidney stone formation in males.Haplotype analysis suggested that the five-locus polymorphism of VDR was significantly related to kidney stone formation in male participants(P=0.0025).Conclusion:TheT allele variant of the rs9729polymorphism of the VDR gene was significantly related to the risk of kidney stone formation.Gender may affect the association between the rs9729,rs11574129and DdeI polymorphisms of the VDR gene and the risk of kidney stone formation in the Chinese population.
