AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer. METHODS: We used PCR-RFLP to evaluate...AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer. METHODS: We used PCR-RFLP to evaluate the genetic XPD Lys751Gln polymorphisms in 44 patients with stage Ⅲ (48%) and Ⅳ (20%) gastric cancer treated with surgery following radiation therapy plus 5-fluorouracil/ leucovorin based chemotherapy. RESULTS: Statistical analysis showed that 75% (12 of 16) of relapse patients showed Lys/Lys genotype more frequently (P = 0.042). The Lys polymorphism was an independent predictor of high-risk relapse-free survival from Cox analysis (HR: 3.07, 95% CI: 1.07-8.78, P = 0.036) and Kaplan-Meir test (P = 0.027, log-rank test). CONCLUSION: XPD Lys751Gln polymorphism may be an important marker in the prediction of clinical outcome to chemo-radiotherapy in resected gastric cancer patients.展开更多
AIM: To clarify the effects of the xeroderma pigmentosum group D(XPD) Asp312 Asn and Lys751 Gln gene polymorphisms on the risk of esophageal cancer(EC).METHODS: A computerised literature search was conducted to identi...AIM: To clarify the effects of the xeroderma pigmentosum group D(XPD) Asp312 Asn and Lys751 Gln gene polymorphisms on the risk of esophageal cancer(EC).METHODS: A computerised literature search was conducted to identify the relevant studies from the PUBMED and EMBASE databases, reviews, and reference lists of relevant articles. Odds ratios(ORs) with 95% confidence intervals(CIs) were used to assess the associations between the XPD Asp312 Asn and/or Lys751 Gln polymorphisms and EC susceptibility. Statistical analyses were performed using the software Stata 12.0. A fixed or random effects model was selected based on a heterogeneity test. Publication bias was estimated using funnel plots and Egger's linear regression method. Subgroup analyses were performed based on histological type and ethnicity.RESULTS: Thirteen case-control studies with a total of 10 comparisons for the Asp312 Asn polymorphism, including 2373 cases and 3175 controls, and 15 comparisons for the Lys751 Gln polymorphism, including 3226 cases and 5237 controls, were recruited for the meta-analysis. In terms of the XPD Asp312 Asn polymorphism, significantly increased EC risks were identified in the Asp/Asn vs Asp/Asp comparison(OR = 1.17, 95%CI: 1.02-1.33, P = 0.03) and in the dominantmodel comparison(Asn/Asn+Asp/Asn vs Asp/Asp: OR = 1.18, 95%CI: 1.04-1.34, P = 0.01). However, no significant associations were found in the Asn/Asn vs Asp/Asp comparison(OR = 1.30, 95%CI: 1.00-1.70, P = 0.05) or in the recessive-model comparison(Asn/Asn vs Asp/Asn + Asp/Asp: OR = 1.17, 95%CI: 0.91-1.50, P = 0.22). In terms of the XPD Lys751 Gln polymorphism, a significant association with EC susceptibility was found under the recessive model(Gln/Gln vs Lys/Gln+Lys/Lys: OR = 1.21, 95%CI: 1.02-1.43, P = 0.03). However, no associations were identified in the other comparisons(co-dominant model: Lys/Gln vs Lys/Lys: OR = 1.11, 95%CI: 0.94-1.31, P = 0.20; Gln/Gln vs Lys/Lys: OR = 1.31, 95%CI: 0.98-1.75, P = 0.07; dominant model: OR = 1.14, 95%CI: 0.96-1.35, P = 0.14).CONCLUSION: The results of this meta-analysis suggest that the XPD Asp312 Asn and Lys751 Gln gene polymorphisms are associated with a significantly increased risk for EC.展开更多
着色性干皮病D组蛋白(Xeroderma pigmentosum group D,XPD)是基础转录因子ⅡH(Transcript factorⅡH,TFⅡH)复合体的第二大亚基,它在转录和核苷酸剪切修复过程中都发挥着重要作用。我们利用人宫颈鳞癌上皮细胞(HeLa细胞)中提取的总RNA...着色性干皮病D组蛋白(Xeroderma pigmentosum group D,XPD)是基础转录因子ⅡH(Transcript factorⅡH,TFⅡH)复合体的第二大亚基,它在转录和核苷酸剪切修复过程中都发挥着重要作用。我们利用人宫颈鳞癌上皮细胞(HeLa细胞)中提取的总RNA进行逆转录酶-聚合酶链反应(Reverse transcriptase-polymerase chain reac-tion,RT-PCR),克隆出人全长XPD cDNA,把此基因按野生型插入表达绿色荧光蛋白的pEGFP-N2质粒,构建了pEGFP-N2/XPD重组体质粒,并将其转染入整合有乙肝病毒X蛋白(Hepatitis B virus X protein,HBx)的人肝癌细胞Hep3B,分析重组细胞的XPD表达水平、HBx表达水平和细胞增殖力,为进一步研究XPD的各种生物学活性及作用机制奠定了基础。展开更多
背景与目的研究表明DNA损伤修复基因-人类着色性干皮病基因D(xeroderma pigmentosum group D,XPD)多态性与肺癌的易感性有关,但各研究结论不一,本研究拟通过meta分析,定量地评价XPD312和751位点基因多态性与肺癌的关系。方法全面检索相...背景与目的研究表明DNA损伤修复基因-人类着色性干皮病基因D(xeroderma pigmentosum group D,XPD)多态性与肺癌的易感性有关,但各研究结论不一,本研究拟通过meta分析,定量地评价XPD312和751位点基因多态性与肺癌的关系。方法全面检索相关文献,按纳入标准对文献进行筛选后提取相关信息,然后在Stata10软件中按照meta分析流程,选择合适方法计算合并的OR值及95%可信区间,并进行敏感性分析和发表偏倚的估计。结果本研究纳入国内外22篇合格文献,其中XPD312位点15篇,XPD751位点20篇。合并结果显示,携带XPD312Asn/Asn突变基因型患肺癌的危险性是野生型Asp/Asp的1.18倍(95%CI:1.03-1.34,P=0.018);XPD751位点突变基因型也与肺癌危险性升高有关(Lys/GlnOR=1.09,95%CI:1.02-1.18;Gln/GlnOR=1.24,95%CI:1.10-1.41)。亚组分析显示XPD751与肺癌的关联性仅见于欧美人群。漏斗图和Egger’s回归分析均未发现明显的偏倚。结论XPD基因312和751位点的突变与肺癌的易感性升高有关。展开更多
目的:人类着色性干皮病基因D(XPD)是核苷酸切除修复途径中的关键基因之一,其单核苷酸多态(SNP)与肺癌的遗传易感性相关联,但研究结论不一,本研究拟采用Meta分析的方法对2000—2014年间发表的相关文献进行综合,评价XPD基因751位点SNP与...目的:人类着色性干皮病基因D(XPD)是核苷酸切除修复途径中的关键基因之一,其单核苷酸多态(SNP)与肺癌的遗传易感性相关联,但研究结论不一,本研究拟采用Meta分析的方法对2000—2014年间发表的相关文献进行综合,评价XPD基因751位点SNP与肺癌遗传易感性的关联。方法:检索PubMed、CNKI(中国知网)、cqVIP(维普资讯网)、万方全文数据库中关于XPD基因Lys751Gln位点多态与肺癌遗传易感性关联的病例对照研究。按照拟定标准筛查并纳入符合标准的文献,采用Rev Man 4.2软件对入选文献进行异质性检验,计算合并相对危险度(OR值)及其95%可信区间(95%CI),同时绘制漏斗图,估计发表偏倚的影响。结果:共纳入28篇国内外文献,累计病例9 012例,对照10 542例,杂合基因型Lys/Gln与野生基因型Lys/Lys相比较,采用随机效应模型计算合并OR值为1.18,95%CI(1.07,1.31),P=0.001;突变基因型Gln/Gln与野生基因型Lys/Lys相比较,采用固定效应模型分析计算合并OR值为1.28,95%CI(1.14,1.44),P<0.01。亚组分析结果显示高加索人群中,XPD基因751位点多态与肺癌遗传易感性相关联。结论:XPD基因751位点Gln/Lys和Gln/Gln基因型的个体,其肺癌发病风险显著增加。展开更多
基金Supported by a grant from the Navarra Government 70/2004
文摘AIM: To evaluate the potential association of xeroderma pigmentosum group D (XPD) codon 751 variant with outcome after chemo-radiotherapy in patients with resected gastric cancer. METHODS: We used PCR-RFLP to evaluate the genetic XPD Lys751Gln polymorphisms in 44 patients with stage Ⅲ (48%) and Ⅳ (20%) gastric cancer treated with surgery following radiation therapy plus 5-fluorouracil/ leucovorin based chemotherapy. RESULTS: Statistical analysis showed that 75% (12 of 16) of relapse patients showed Lys/Lys genotype more frequently (P = 0.042). The Lys polymorphism was an independent predictor of high-risk relapse-free survival from Cox analysis (HR: 3.07, 95% CI: 1.07-8.78, P = 0.036) and Kaplan-Meir test (P = 0.027, log-rank test). CONCLUSION: XPD Lys751Gln polymorphism may be an important marker in the prediction of clinical outcome to chemo-radiotherapy in resected gastric cancer patients.
文摘AIM: To clarify the effects of the xeroderma pigmentosum group D(XPD) Asp312 Asn and Lys751 Gln gene polymorphisms on the risk of esophageal cancer(EC).METHODS: A computerised literature search was conducted to identify the relevant studies from the PUBMED and EMBASE databases, reviews, and reference lists of relevant articles. Odds ratios(ORs) with 95% confidence intervals(CIs) were used to assess the associations between the XPD Asp312 Asn and/or Lys751 Gln polymorphisms and EC susceptibility. Statistical analyses were performed using the software Stata 12.0. A fixed or random effects model was selected based on a heterogeneity test. Publication bias was estimated using funnel plots and Egger's linear regression method. Subgroup analyses were performed based on histological type and ethnicity.RESULTS: Thirteen case-control studies with a total of 10 comparisons for the Asp312 Asn polymorphism, including 2373 cases and 3175 controls, and 15 comparisons for the Lys751 Gln polymorphism, including 3226 cases and 5237 controls, were recruited for the meta-analysis. In terms of the XPD Asp312 Asn polymorphism, significantly increased EC risks were identified in the Asp/Asn vs Asp/Asp comparison(OR = 1.17, 95%CI: 1.02-1.33, P = 0.03) and in the dominantmodel comparison(Asn/Asn+Asp/Asn vs Asp/Asp: OR = 1.18, 95%CI: 1.04-1.34, P = 0.01). However, no significant associations were found in the Asn/Asn vs Asp/Asp comparison(OR = 1.30, 95%CI: 1.00-1.70, P = 0.05) or in the recessive-model comparison(Asn/Asn vs Asp/Asn + Asp/Asp: OR = 1.17, 95%CI: 0.91-1.50, P = 0.22). In terms of the XPD Lys751 Gln polymorphism, a significant association with EC susceptibility was found under the recessive model(Gln/Gln vs Lys/Gln+Lys/Lys: OR = 1.21, 95%CI: 1.02-1.43, P = 0.03). However, no associations were identified in the other comparisons(co-dominant model: Lys/Gln vs Lys/Lys: OR = 1.11, 95%CI: 0.94-1.31, P = 0.20; Gln/Gln vs Lys/Lys: OR = 1.31, 95%CI: 0.98-1.75, P = 0.07; dominant model: OR = 1.14, 95%CI: 0.96-1.35, P = 0.14).CONCLUSION: The results of this meta-analysis suggest that the XPD Asp312 Asn and Lys751 Gln gene polymorphisms are associated with a significantly increased risk for EC.
文摘着色性干皮病D组蛋白(Xeroderma pigmentosum group D,XPD)是基础转录因子ⅡH(Transcript factorⅡH,TFⅡH)复合体的第二大亚基,它在转录和核苷酸剪切修复过程中都发挥着重要作用。我们利用人宫颈鳞癌上皮细胞(HeLa细胞)中提取的总RNA进行逆转录酶-聚合酶链反应(Reverse transcriptase-polymerase chain reac-tion,RT-PCR),克隆出人全长XPD cDNA,把此基因按野生型插入表达绿色荧光蛋白的pEGFP-N2质粒,构建了pEGFP-N2/XPD重组体质粒,并将其转染入整合有乙肝病毒X蛋白(Hepatitis B virus X protein,HBx)的人肝癌细胞Hep3B,分析重组细胞的XPD表达水平、HBx表达水平和细胞增殖力,为进一步研究XPD的各种生物学活性及作用机制奠定了基础。
文摘背景与目的研究表明DNA损伤修复基因-人类着色性干皮病基因D(xeroderma pigmentosum group D,XPD)多态性与肺癌的易感性有关,但各研究结论不一,本研究拟通过meta分析,定量地评价XPD312和751位点基因多态性与肺癌的关系。方法全面检索相关文献,按纳入标准对文献进行筛选后提取相关信息,然后在Stata10软件中按照meta分析流程,选择合适方法计算合并的OR值及95%可信区间,并进行敏感性分析和发表偏倚的估计。结果本研究纳入国内外22篇合格文献,其中XPD312位点15篇,XPD751位点20篇。合并结果显示,携带XPD312Asn/Asn突变基因型患肺癌的危险性是野生型Asp/Asp的1.18倍(95%CI:1.03-1.34,P=0.018);XPD751位点突变基因型也与肺癌危险性升高有关(Lys/GlnOR=1.09,95%CI:1.02-1.18;Gln/GlnOR=1.24,95%CI:1.10-1.41)。亚组分析显示XPD751与肺癌的关联性仅见于欧美人群。漏斗图和Egger’s回归分析均未发现明显的偏倚。结论XPD基因312和751位点的突变与肺癌的易感性升高有关。
文摘目的:人类着色性干皮病基因D(XPD)是核苷酸切除修复途径中的关键基因之一,其单核苷酸多态(SNP)与肺癌的遗传易感性相关联,但研究结论不一,本研究拟采用Meta分析的方法对2000—2014年间发表的相关文献进行综合,评价XPD基因751位点SNP与肺癌遗传易感性的关联。方法:检索PubMed、CNKI(中国知网)、cqVIP(维普资讯网)、万方全文数据库中关于XPD基因Lys751Gln位点多态与肺癌遗传易感性关联的病例对照研究。按照拟定标准筛查并纳入符合标准的文献,采用Rev Man 4.2软件对入选文献进行异质性检验,计算合并相对危险度(OR值)及其95%可信区间(95%CI),同时绘制漏斗图,估计发表偏倚的影响。结果:共纳入28篇国内外文献,累计病例9 012例,对照10 542例,杂合基因型Lys/Gln与野生基因型Lys/Lys相比较,采用随机效应模型计算合并OR值为1.18,95%CI(1.07,1.31),P=0.001;突变基因型Gln/Gln与野生基因型Lys/Lys相比较,采用固定效应模型分析计算合并OR值为1.28,95%CI(1.14,1.44),P<0.01。亚组分析结果显示高加索人群中,XPD基因751位点多态与肺癌遗传易感性相关联。结论:XPD基因751位点Gln/Lys和Gln/Gln基因型的个体,其肺癌发病风险显著增加。