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
目的:探讨维生素D受体(vitamin D receptor,VDR)基因(删除基因)FokI位点基因型及等位基因频率分布与老年2型糖尿病(type 2 diabetes,T2DM)的相关性。方法:选取2022年1月-2023年12月在西安市第九医院老年病科、全科医学科、内分泌科就诊...目的:探讨维生素D受体(vitamin D receptor,VDR)基因(删除基因)FokI位点基因型及等位基因频率分布与老年2型糖尿病(type 2 diabetes,T2DM)的相关性。方法:选取2022年1月-2023年12月在西安市第九医院老年病科、全科医学科、内分泌科就诊的年龄>60岁的2型糖尿病患者110例及同期112名体检健康者为研究对象,应用电化学发光法检测其血浆25-羟基维生素D水平,探针法联合测序法(测序法检验结果)分析其VDR基因(删除基因)FokI位点基因多态性分布。结果:在T2DM组和对照组一般资料的比较结果提示:体重、体重指数(body mass index,BMI)、空腹血糖(Fasting blood glucose,FBG)、高密度脂蛋白胆固醇(high-density lipoprotein cholesterol,HDL-C)、低密度脂蛋白胆固醇(low-density lipoprotein cholesterol,LDL-C)、维生素D水平(Vitamin D level)两组间比较差异有统计学意义(P<0.05)。多因素logistic回归分析结果提示:HDL-C可能是T2DM的保护性因素[OR=0.060,95%CI(0.019-0.193),P<0.05]。维生素D可能是T2DM的保护性因素[OR=0.969,95%CI(0.939-0.999),P<0.05],VDR-FokI CC基因型可能是T2DM的保护性因素[OR=0.383,95%CI(0.150-0.982),P<0.05]。结论:(1)HDL-C及维生素D可能是T2DM保护性因素。(2)VDR-FokI位点CC基因型可能是T2DM发病的保护性因素。展开更多
目的 探讨IGT者25羟基维生素D3（25-OH-VD3）、维生素D受体（VDR）基因FokI多态性与IR的相关性。 方法 选取IGT者（IGT组）94例及正常对照（NC）组54名，采用PCR-RLFP检测VDR基因FokI多态性，ELISA检测25-OH-VD3，比较各组基因型及等位...目的 探讨IGT者25羟基维生素D3（25-OH-VD3）、维生素D受体（VDR）基因FokI多态性与IR的相关性。 方法 选取IGT者（IGT组）94例及正常对照（NC）组54名，采用PCR-RLFP检测VDR基因FokI多态性，ELISA检测25-OH-VD3，比较各组基因型及等位基因频率。 结果 ⑴与NC组比较，IGT组血清25-OH-VD3较低[（22.05±2.37） vs （32.04± 2.64） ng/ml，P〈0.05];⑵与NC比较，IGT组“f”等位基因频率升高（46.8% vs 25.9%，FF：30.9% vs 57.4%;Ff： 46.9% vs 33.3%;ff：22.3% vs 9.3%，P〈0.05）。与FF基因型比较，Ff/ff基因型患IGT危险增加（OR=2.613，95%CI=1.239～5.512，P=0.018;OR=4.490，95%CI=1.496～13.473，P=0.010）。与F型比较，携带“f”等位基因患IGT风险增加（OR=2.465，95%CI=1.188～5.116，P=0.023）。Ff、ff基因型与FF型比较，HOMA-IR增高（P〈0.05）;VDR基因FokI位点ff基因型者较其它两种基因型IR更明显（P〈0.01）;⑶Logistic回归分析显示，VDR基因FokI ff与IR呈正相关（OR=1.761，95%CI：1.050～2.970，P〈0.05），25-OH-VD3与IR呈负相关（β=-1.187，OR=0.461，95%CI：0.187～0.741，P〈0.05）。 结论 血清25-OH-VD3水平与IR呈负相关，VDR基因FokI可能与IGT者IR有关。展开更多
目的 应用Meta分析探讨VDR基因FokI位点多态性与肺结核易感性的关系。方法 计算机检索英文数据库PubMed、中国知网(CNKI)、万方数据库(WanFang Data)等,查找从建库至2021年12月31日公开发表的所有国内外关于研究VDR基因FokI位点多态性...目的 应用Meta分析探讨VDR基因FokI位点多态性与肺结核易感性的关系。方法 计算机检索英文数据库PubMed、中国知网(CNKI)、万方数据库(WanFang Data)等,查找从建库至2021年12月31日公开发表的所有国内外关于研究VDR基因FokI位点多态性与肺结核易感性关系的相关文献,加之采取文献追溯的方法,逐个检索相关的参考文献。由两名评价员根据纳排标准对文献进行筛选,提取数据并评价文献资料,利用R软件进行Meta分析。结果 共纳入34篇相关文献,涉及8 579名病例组肺结核患者和9 027名对照人群。VDR FokI多态性与肺结核之间的易感性在等位基因模型[f vs F:OR(95%CI):1.28(1.11~1.46),P<0.01]、显性基因模型[ff+Ff vs FF:OR(95%CI):1.23(1.11~1.36),P<0.01]、隐性基因模型[ff vs FF+Ff:OR(95%CI):1.36(1.15~1.60),P<0.01]、共显性基因模型[ff vs FF:OR(95%CI):1.52(1.22~1.90),P<0.01;Ff vs FF:OR(95%CI):1.20(1.05~1.36),P<0.01]中均具有统计学意义;在超显性基因模型[ff+FF vs Ff:OR(95%CI):0.94(0.85~1.04),P=0.22]中无统计学意义。结论 全体人群、东亚人群VDR基因FokI位点多态性与结核易感性有关,f等位基因可能是结核感染的危险因素。展开更多
Intervertebral disk degeneration （IDD） is strongly associated with genetic predisposition and environmental susceptibility. Several studies been conducted to investigate the potential asso- ciation between IDD and F...Intervertebral disk degeneration （IDD） is strongly associated with genetic predisposition and environmental susceptibility. Several studies been conducted to investigate the potential asso- ciation between IDD and FokI polymorphism located in the gene encoding the vitamin D receptor （VDR）, and inconsistent conclusions had been reached among different ethnic populations. In order to assess the association between the FokI polymorphism and the risk of IDD, we performed a comprehensive and systematic meta-analysis. Candidate articles were retrieved from PubMed, EMBASE, China National Knowledge Infrastructure （CNKI）, and China Biology Medical （CBM） with strict inclusion criteria in January 2015. Among the 54 articles that were retrieved, only eight studies met the inclusion criteria. The pooled data analysis based on allele contrast, homozy- gore, heterozygote, dominant, and recessive models revealed no significant correlation between the FokI polymorphism and the risk of IDD. However, when stratified by ethnicity, significant associ- ations were detected for Hispanics based on allele contrast （OR = 1.395, 95% CI = 1.059-1.836, P = 0.018）, homozygote （OR = 1.849, 95% CI = 1.001-3.416, P = 0.049）, heterozygote （OR = 1.254, 95% CI = 1.049-1.498, P = 0.013）, and dominant （OR = 1.742, 95% CI = 1.174-2.583, P = 0.006） models, and for Asians using the dominant model （OR = 1.293, 95% CI = 1.025-1.632, P --- 0.030）, whereas there is no significant association detected for Caucasians. In conclusion, FokI polymorpbism is not generally associated with IDD, but there is increased risk for IDD in Hispanics and Asians carrying FokI allele T.展开更多
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
Background: Vitamin D regulates many aspects of cellular growth and differentiation in normal and cancer cells. There is growing evidence for both serum vitamin D level and VDR gene polymorphism as prognostic factors ...Background: Vitamin D regulates many aspects of cellular growth and differentiation in normal and cancer cells. There is growing evidence for both serum vitamin D level and VDR gene polymorphism as prognostic factors in hematologic malignancies. Aim of this work: Evaluation of vitamin D serum level and VDR FOKI polymorphism as prognostic factors in adult AML patients. Patients & Methods: Eighty subjects were included in this study, 50 adult patients with newly diagnosed AML and 30 apparently healthy controls matched for age and sex. Venous blood samples were withdrawn from all subjects for measurement of serum 25(OH) vitamin D using competitive photo chemiluminescence and molecular detection of VDR (FOKI) polymorphism, which was done by RFLP PCR. All patients received the standard induction chemotherapy regimen 3 & 7. Results: The rate of vitamin D insufficiency was significantly higher in AML patients compared to controls (58% vs 16%, p = 0.03). The mutant FOKI genotype (FF & Ff) was found in 52 % of patients compared to 23 % of controls (p = 0.02). Patient with sufficient vitamin D level showed a significantly higher complete response rate compared to those with insufficient level (90% vs 44%, p = 0.02), while none of the other clinical features showed significant relation. Patients with wild type FOKI polymorphism (FF) were more likely to have favorable cytogenetics, while patient with mutant FOKI polymorphism were more likely to have poor cytogenetics (p = 0.03). The CR rate was highest in the wild type FF group (87.5%) followed by the heterozygous Ff group (50%), while none of the patients in the homozygous ff group achieved CR (p = 0.04). Conclusion: VDR FOKI polymorphism and serum vitamin D level showed a significant impact on the treatment outcome of adult AML patients suggesting their potential role as prognostic factors in these patients. Longer follow up will be needed to study the impact on overall and disease free survival.展开更多
文摘目的 探讨IGT者25羟基维生素D3（25-OH-VD3）、维生素D受体（VDR）基因FokI多态性与IR的相关性。 方法 选取IGT者（IGT组）94例及正常对照（NC）组54名，采用PCR-RLFP检测VDR基因FokI多态性，ELISA检测25-OH-VD3，比较各组基因型及等位基因频率。 结果 ⑴与NC组比较，IGT组血清25-OH-VD3较低[（22.05±2.37） vs （32.04± 2.64） ng/ml，P〈0.05];⑵与NC比较，IGT组“f”等位基因频率升高（46.8% vs 25.9%，FF：30.9% vs 57.4%;Ff： 46.9% vs 33.3%;ff：22.3% vs 9.3%，P〈0.05）。与FF基因型比较，Ff/ff基因型患IGT危险增加（OR=2.613，95%CI=1.239～5.512，P=0.018;OR=4.490，95%CI=1.496～13.473，P=0.010）。与F型比较，携带“f”等位基因患IGT风险增加（OR=2.465，95%CI=1.188～5.116，P=0.023）。Ff、ff基因型与FF型比较，HOMA-IR增高（P〈0.05）;VDR基因FokI位点ff基因型者较其它两种基因型IR更明显（P〈0.01）;⑶Logistic回归分析显示，VDR基因FokI ff与IR呈正相关（OR=1.761，95%CI：1.050～2.970，P〈0.05），25-OH-VD3与IR呈负相关（β=-1.187，OR=0.461，95%CI：0.187～0.741，P〈0.05）。 结论 血清25-OH-VD3水平与IR呈负相关，VDR基因FokI可能与IGT者IR有关。
文摘目的 应用Meta分析探讨VDR基因FokI位点多态性与肺结核易感性的关系。方法 计算机检索英文数据库PubMed、中国知网(CNKI)、万方数据库(WanFang Data)等,查找从建库至2021年12月31日公开发表的所有国内外关于研究VDR基因FokI位点多态性与肺结核易感性关系的相关文献,加之采取文献追溯的方法,逐个检索相关的参考文献。由两名评价员根据纳排标准对文献进行筛选,提取数据并评价文献资料,利用R软件进行Meta分析。结果 共纳入34篇相关文献,涉及8 579名病例组肺结核患者和9 027名对照人群。VDR FokI多态性与肺结核之间的易感性在等位基因模型[f vs F:OR(95%CI):1.28(1.11~1.46),P<0.01]、显性基因模型[ff+Ff vs FF:OR(95%CI):1.23(1.11~1.36),P<0.01]、隐性基因模型[ff vs FF+Ff:OR(95%CI):1.36(1.15~1.60),P<0.01]、共显性基因模型[ff vs FF:OR(95%CI):1.52(1.22~1.90),P<0.01;Ff vs FF:OR(95%CI):1.20(1.05~1.36),P<0.01]中均具有统计学意义;在超显性基因模型[ff+FF vs Ff:OR(95%CI):0.94(0.85~1.04),P=0.22]中无统计学意义。结论 全体人群、东亚人群VDR基因FokI位点多态性与结核易感性有关,f等位基因可能是结核感染的危险因素。
基金supported by the Science & Technology Commission of Shanghai Municipality, China (Grant No. 11DZ191109)the National Natural Science Foundation of China (Grant No. 30872611)
文摘Intervertebral disk degeneration （IDD） is strongly associated with genetic predisposition and environmental susceptibility. Several studies been conducted to investigate the potential asso- ciation between IDD and FokI polymorphism located in the gene encoding the vitamin D receptor （VDR）, and inconsistent conclusions had been reached among different ethnic populations. In order to assess the association between the FokI polymorphism and the risk of IDD, we performed a comprehensive and systematic meta-analysis. Candidate articles were retrieved from PubMed, EMBASE, China National Knowledge Infrastructure （CNKI）, and China Biology Medical （CBM） with strict inclusion criteria in January 2015. Among the 54 articles that were retrieved, only eight studies met the inclusion criteria. The pooled data analysis based on allele contrast, homozy- gore, heterozygote, dominant, and recessive models revealed no significant correlation between the FokI polymorphism and the risk of IDD. However, when stratified by ethnicity, significant associ- ations were detected for Hispanics based on allele contrast （OR = 1.395, 95% CI = 1.059-1.836, P = 0.018）, homozygote （OR = 1.849, 95% CI = 1.001-3.416, P = 0.049）, heterozygote （OR = 1.254, 95% CI = 1.049-1.498, P = 0.013）, and dominant （OR = 1.742, 95% CI = 1.174-2.583, P = 0.006） models, and for Asians using the dominant model （OR = 1.293, 95% CI = 1.025-1.632, P --- 0.030）, whereas there is no significant association detected for Caucasians. In conclusion, FokI polymorpbism is not generally associated with IDD, but there is increased risk for IDD in Hispanics and Asians carrying FokI allele T.
文摘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.
文摘Background: Vitamin D regulates many aspects of cellular growth and differentiation in normal and cancer cells. There is growing evidence for both serum vitamin D level and VDR gene polymorphism as prognostic factors in hematologic malignancies. Aim of this work: Evaluation of vitamin D serum level and VDR FOKI polymorphism as prognostic factors in adult AML patients. Patients & Methods: Eighty subjects were included in this study, 50 adult patients with newly diagnosed AML and 30 apparently healthy controls matched for age and sex. Venous blood samples were withdrawn from all subjects for measurement of serum 25(OH) vitamin D using competitive photo chemiluminescence and molecular detection of VDR (FOKI) polymorphism, which was done by RFLP PCR. All patients received the standard induction chemotherapy regimen 3 & 7. Results: The rate of vitamin D insufficiency was significantly higher in AML patients compared to controls (58% vs 16%, p = 0.03). The mutant FOKI genotype (FF & Ff) was found in 52 % of patients compared to 23 % of controls (p = 0.02). Patient with sufficient vitamin D level showed a significantly higher complete response rate compared to those with insufficient level (90% vs 44%, p = 0.02), while none of the other clinical features showed significant relation. Patients with wild type FOKI polymorphism (FF) were more likely to have favorable cytogenetics, while patient with mutant FOKI polymorphism were more likely to have poor cytogenetics (p = 0.03). The CR rate was highest in the wild type FF group (87.5%) followed by the heterozygous Ff group (50%), while none of the patients in the homozygous ff group achieved CR (p = 0.04). Conclusion: VDR FOKI polymorphism and serum vitamin D level showed a significant impact on the treatment outcome of adult AML patients suggesting their potential role as prognostic factors in these patients. Longer follow up will be needed to study the impact on overall and disease free survival.
