目的采用Meta分析法综合评价对氧磷脂酶1 192Gln/Arg(PON1 Q192R)基因多态性与2型糖尿病并发冠心病的相关性。方法截至2017年3月,在Pubmed、Embase、Web of Science、中国知网、万方等数据库可检索到的已发表论文,由两位评价者根据纳入...目的采用Meta分析法综合评价对氧磷脂酶1 192Gln/Arg(PON1 Q192R)基因多态性与2型糖尿病并发冠心病的相关性。方法截至2017年3月,在Pubmed、Embase、Web of Science、中国知网、万方等数据库可检索到的已发表论文,由两位评价者根据纳入排除标准独立筛选和评价文献质量。采用Rev Man5.3和Stata12.0软件进行Meta分析,计算合并比值比(odds ratio,OR)及其95%可信区间(confidence intervals,CI),并进行敏感度分析和发表偏倚评估。结果 9个病例-对照研究纳入本研究,包括1353例病例组(2型糖尿病并发冠心病组)和1360例对照组(单纯2型糖尿病组)。Meta分析结果显示,与单纯糖尿病组比较,5种基因模型均提示PON1Gln/Arg基因多态性和2型糖尿病并发冠心病显著相关[等位基因模型:R vs Q,OR=1.50,95%CI(1.23~1.83);纯合子基因模型:RR vs QQ,OR=2.28,95%CI(1.52~3.42);杂合子基因模型:QR vs QQ,OR=1.42,95%CI(1.18~1.71);显性基因模型:RR+RQ vs QQ,OR=1.59,95%CI(1.33~1.89);隐性基因模型:RR vs RQ+QQ,OR=1.74,95%CI(1.24~2.45)]。人口学的亚组分析提示,对氧磷脂酶1 192Gln/Arg基因多态性与2型糖尿病并发冠心病的相关性在亚洲和高加索人群中比较,差异无统计学意义。敏感度结果显示,合并的结果是稳定可靠的,漏斗图检测未发现发表偏倚。结论 PON1 192Gln/Arg基因多态性与2型糖尿病并发冠心病风险呈显著相关性,携带R等位基因的2型糖尿病人群相对于携带Q等位基因者,可能更易并发冠心病。展开更多
目的探讨XRCC1基因Arg399Gln位点多态性与结直肠癌患者的铂类药物化疗敏感性和预后之间的关系。方法计算机检索PubMed、Embase、the Cochrane Library、Web of Science databases、CNKI、CBMdisc、Wanfang数据库,收集有关结直肠患者XRCC...目的探讨XRCC1基因Arg399Gln位点多态性与结直肠癌患者的铂类药物化疗敏感性和预后之间的关系。方法计算机检索PubMed、Embase、the Cochrane Library、Web of Science databases、CNKI、CBMdisc、Wanfang数据库,收集有关结直肠患者XRCC1 Arg399Gln位点多态性对以铂类药物为基础的联合化疗的有效性和临床结局的研究,采用Stata 15.1统计软件进行Meta分析。结果共纳入19项研究,合计2382例患者。按照基因检测结果发现,XRCC1 Arg399Gln位点野生型(GG基因型),突变杂合型(AG基因型)和突变纯合型(AA基因型)。Meta分析结果显示,XRCC1 Arg399Gln位点多态性在显性、共显性遗传模型下与结直肠癌患者接受铂类化疗的敏感性有关(AA+AG vs GG:OR=0.50,95%CI:0.38~0.65,P=0.000;AG vs GG:OR=0.72,95%CI:0.53~0.98,P=0.038;AA vs GG:OR=0.34,95%CI:0.18~0.67,P=0.002)。在剔除Gan等的研究后按照种族亚组分析提示,XRCC1 Arg399Gln位点多态性在显性遗传模式下与亚洲人群结直肠癌患者铂类药物化疗的敏感性有关(AA+AG vs GG:OR=0.43,95%CI:0.32~0.58,P=0.000),而在高加索人群中无明显相关性。在所有纳入的研究中显示XRCC1 Arg399Gln位点在显性和共显性遗传模式下与结直肠癌患者的无进展生存期(PFS)和总生存率(OS)无明显相关性。结论XRCC1基因Arg399Gln位点多态性与亚洲人群结直肠癌患者以铂类药物为基础的化疗敏感性有关,而与化疗后的PFS和OS无明显相关性。展开更多
目的:探讨白细胞介素-23R Arg381Gln基因多态性与炎症性肠病(Inflammatory Bowel Disease,IBD)相关性。方法:采用序列特异性引物配合聚合酶链反应(polymerasechain reaction with sequence specific primers,PCR-SSP)技术对125例炎症性...目的:探讨白细胞介素-23R Arg381Gln基因多态性与炎症性肠病(Inflammatory Bowel Disease,IBD)相关性。方法:采用序列特异性引物配合聚合酶链反应(polymerasechain reaction with sequence specific primers,PCR-SSP)技术对125例炎症性肠病患者(研究组:UC组78例,CD组47例)与120例健康体检者(对照组)IL-23R基因非同义单核苷酸多态性(IL-23R Arg381Gln)进行分析,计算等位基因的表现频率,评估IL-23R Arg381Gln基因多态性与炎症性肠病相关性。结果:UC组、CD组、对照组A等位基因的表现频率分别为5.13%、2.13%、5.83%,三者比较差异无统计学意义(P>0.05),但CD组A等位基因的表现频率稍低于UC组与对照组。UC组、CD组、对照组G等位基因的表现频率分别为6.41%、6.38%、5.83%,比较差异无统计学意义(P>0.05)。结论:白细胞介素-23R Arg381Gln基因多态性与炎症性肠病无显著的关系,个体遗传差异性可能决定炎症性肠病的易感性。展开更多
Background and Purpose -The paraoxonases are involved in protecting low-density lipoprotein (LDL) from lipid oxidation. Paraoxonase 1 (PON1) was implicated in susceptibility to coronary artery disease and stroke in pr...Background and Purpose -The paraoxonases are involved in protecting low-density lipoprotein (LDL) from lipid oxidation. Paraoxonase 1 (PON1) was implicated in susceptibility to coronary artery disease and stroke in previous studies. We evaluated, in a comprehensive way, all 3 paraoxonase genes for association with stroke observed in the Cholesterol and Recurrent Events (CARE) trial. Methods - Over 2500 subjects enrolled in the CARE trial were genotyped for 14 single nucleotide polymorphisms, including 7 newly identified in this study, in the 3 paraox onase genes. Results -A glutamine (Gln)/arginine (Arg) polymorphism at amino ac id residue 192 in PON1 was significantly associated with stroke (P=0.003 in mult ivariate analysis, including age, sex, LDL, hypertension, diabetes, smoking, and pravastatin treatment as covariates). The odds ratios were 2.28 (95%CI, 1.38 t o 3.79) for Gln/Arg heterozygotes and 2.47 (95%CI, 1.18 to 5.19) for Arg/Arg ho mozygotes compared with Gln/Gln homozygotes. These results are consistent with 2 of 3 other published studies. In combined analysis of all 4 studies, the associ ation between Gln192Arg SNP and stroke was highly significant (χ28df=45.58, P < 0.000001). Sequence analysis of the PONl gene from seventy stroke cases reveale d a novel nonsense mutation at codon 32 in one stroke case, which was not detect ed in over 2500 unaffected individuals. Polymorphisms in the PON2 and PON3 genes were not associated with stroke. Conclusions -These results suggest that Gln19 2Arg genotype is an important risk factor for stroke.展开更多
文摘目的采用Meta分析法综合评价对氧磷脂酶1 192Gln/Arg(PON1 Q192R)基因多态性与2型糖尿病并发冠心病的相关性。方法截至2017年3月,在Pubmed、Embase、Web of Science、中国知网、万方等数据库可检索到的已发表论文,由两位评价者根据纳入排除标准独立筛选和评价文献质量。采用Rev Man5.3和Stata12.0软件进行Meta分析,计算合并比值比(odds ratio,OR)及其95%可信区间(confidence intervals,CI),并进行敏感度分析和发表偏倚评估。结果 9个病例-对照研究纳入本研究,包括1353例病例组(2型糖尿病并发冠心病组)和1360例对照组(单纯2型糖尿病组)。Meta分析结果显示,与单纯糖尿病组比较,5种基因模型均提示PON1Gln/Arg基因多态性和2型糖尿病并发冠心病显著相关[等位基因模型:R vs Q,OR=1.50,95%CI(1.23~1.83);纯合子基因模型:RR vs QQ,OR=2.28,95%CI(1.52~3.42);杂合子基因模型:QR vs QQ,OR=1.42,95%CI(1.18~1.71);显性基因模型:RR+RQ vs QQ,OR=1.59,95%CI(1.33~1.89);隐性基因模型:RR vs RQ+QQ,OR=1.74,95%CI(1.24~2.45)]。人口学的亚组分析提示,对氧磷脂酶1 192Gln/Arg基因多态性与2型糖尿病并发冠心病的相关性在亚洲和高加索人群中比较,差异无统计学意义。敏感度结果显示,合并的结果是稳定可靠的,漏斗图检测未发现发表偏倚。结论 PON1 192Gln/Arg基因多态性与2型糖尿病并发冠心病风险呈显著相关性,携带R等位基因的2型糖尿病人群相对于携带Q等位基因者,可能更易并发冠心病。
文摘目的探讨XRCC1基因Arg399Gln位点多态性与结直肠癌患者的铂类药物化疗敏感性和预后之间的关系。方法计算机检索PubMed、Embase、the Cochrane Library、Web of Science databases、CNKI、CBMdisc、Wanfang数据库,收集有关结直肠患者XRCC1 Arg399Gln位点多态性对以铂类药物为基础的联合化疗的有效性和临床结局的研究,采用Stata 15.1统计软件进行Meta分析。结果共纳入19项研究,合计2382例患者。按照基因检测结果发现,XRCC1 Arg399Gln位点野生型(GG基因型),突变杂合型(AG基因型)和突变纯合型(AA基因型)。Meta分析结果显示,XRCC1 Arg399Gln位点多态性在显性、共显性遗传模型下与结直肠癌患者接受铂类化疗的敏感性有关(AA+AG vs GG:OR=0.50,95%CI:0.38~0.65,P=0.000;AG vs GG:OR=0.72,95%CI:0.53~0.98,P=0.038;AA vs GG:OR=0.34,95%CI:0.18~0.67,P=0.002)。在剔除Gan等的研究后按照种族亚组分析提示,XRCC1 Arg399Gln位点多态性在显性遗传模式下与亚洲人群结直肠癌患者铂类药物化疗的敏感性有关(AA+AG vs GG:OR=0.43,95%CI:0.32~0.58,P=0.000),而在高加索人群中无明显相关性。在所有纳入的研究中显示XRCC1 Arg399Gln位点在显性和共显性遗传模式下与结直肠癌患者的无进展生存期(PFS)和总生存率(OS)无明显相关性。结论XRCC1基因Arg399Gln位点多态性与亚洲人群结直肠癌患者以铂类药物为基础的化疗敏感性有关,而与化疗后的PFS和OS无明显相关性。
文摘Background and Purpose -The paraoxonases are involved in protecting low-density lipoprotein (LDL) from lipid oxidation. Paraoxonase 1 (PON1) was implicated in susceptibility to coronary artery disease and stroke in previous studies. We evaluated, in a comprehensive way, all 3 paraoxonase genes for association with stroke observed in the Cholesterol and Recurrent Events (CARE) trial. Methods - Over 2500 subjects enrolled in the CARE trial were genotyped for 14 single nucleotide polymorphisms, including 7 newly identified in this study, in the 3 paraox onase genes. Results -A glutamine (Gln)/arginine (Arg) polymorphism at amino ac id residue 192 in PON1 was significantly associated with stroke (P=0.003 in mult ivariate analysis, including age, sex, LDL, hypertension, diabetes, smoking, and pravastatin treatment as covariates). The odds ratios were 2.28 (95%CI, 1.38 t o 3.79) for Gln/Arg heterozygotes and 2.47 (95%CI, 1.18 to 5.19) for Arg/Arg ho mozygotes compared with Gln/Gln homozygotes. These results are consistent with 2 of 3 other published studies. In combined analysis of all 4 studies, the associ ation between Gln192Arg SNP and stroke was highly significant (χ28df=45.58, P < 0.000001). Sequence analysis of the PONl gene from seventy stroke cases reveale d a novel nonsense mutation at codon 32 in one stroke case, which was not detect ed in over 2500 unaffected individuals. Polymorphisms in the PON2 and PON3 genes were not associated with stroke. Conclusions -These results suggest that Gln19 2Arg genotype is an important risk factor for stroke.
