目的系统评价循环肿瘤DNA(ctDNA)在中国人群原发性肝癌(肝癌)中的诊断价值。方法检索PubMed、Web of Science、Embase、中国知网、万方、维普数据库中从建库至2021年11月关于应用ctDNA诊断肝癌的文献。中英文检索词为循环肿瘤DNA、ctDN...目的系统评价循环肿瘤DNA(ctDNA)在中国人群原发性肝癌(肝癌)中的诊断价值。方法检索PubMed、Web of Science、Embase、中国知网、万方、维普数据库中从建库至2021年11月关于应用ctDNA诊断肝癌的文献。中英文检索词为循环肿瘤DNA、ctDNA、游离DNA、循环DNA、cfDNA、血浆DNA、血清DNA,以及肝癌、肝细胞癌、肝肿瘤、肝脏肿瘤、原发性肝癌等。对纳入文献进行数据提取和质量评估后,采用Review Manager 5.3和Stata 15.1统计软件计算合并敏感度、特异度,绘制森林图和综合受试者操作特征(sROC)曲线并计算曲线下面积(AUC)。通过Meta回归分析和亚组分析分析异质性来源。绘制Deek's漏斗图检验发表偏倚。结果共纳入符合标准的文献25篇,包括4063例肝癌患者和3509例对照。其中5项研究为检测ctDNA浓度的定量分析,14篇为检测ctDNA中的肿瘤特异性单基因甲基化的定性分析,6篇通过ctDNA的特征构建模型进行诊断。定量研究组的合并敏感度、特异度及AUC分别为0.68(0.58~0.77)、0.82(0.71~0.89)和0.81(0.77~0.84);定性研究组相应为0.55(0.47~0.62)、0.99(0.93~1.00)和0.80(0.77~0.83);模型构建组相应为0.81(0.72~0.87)、0.91(0.85~0.94)和0.93(0.90~0.95)。Deek's漏斗图检验显示,定量研究组(t=1.080,P>0.05)、定性研究组(t=0.690,P>0.05)和模型构建组(t=0.230,P>0.05)均不存在明显的发表偏倚。结论ctDNA在我国肝癌诊断中具有良好的应用价值,利用ctDNA构建模型的诊断性能优于定量分析和定性分析。展开更多
Background Iron overload is frequently observed in non-alcoholic fatty liver disease(NAFLD).Transferrin receptor 2(TFR2)is an important key factor in iron regulation.We aimed to investigate whether TFR2 single nucleot...Background Iron overload is frequently observed in non-alcoholic fatty liver disease(NAFLD).Transferrin receptor 2(TFR2)is an important key factor in iron regulation.We aimed to investigate whether TFR2 single nucleotide polymorphisms(SNPs)contribute to susceptibility to NAFLD in a Chinese Han population.Methods Five tag SNPs(rs10247962,rs4434553,rs2075672,rs1052897,and rs3757859)in the TFR2 gene were selected and genotyped in a case–control study on participants who visited two affiliated hospitals of Fujian Medical University between June 2011 and August 2017.Propensity score matching and inverse probability of treatment weighting analyses were used to verify the risk associated with TFR2 SNPs.Results Logistic regression analyses suggested that subjects with the rs4434553 GA or GG genotype had a lower risk of NAFLD than those carrying the AA genotype(odds ratio=0.630,95%confidence interval=0.504–0.788).Moreover,the rs4434553 GA or GG genotype was negatively correlated with body mass index,hepatic steatosis index,and serum ferritin(b=-0.363,P=0.008;b=-1.040,P=0.009;b=-35.258,P=0.015,respectively),and positively associated with serum hepcidin level(b=35.308,P<0.001).Moreover,rs10247962 and rs1052897 had multiplicative interactions with age in relation to the risk of NAFLD(P for interactions,0.041 and 0.034,respectively).The cumulative effects of the rs10247962,rs1052897,and rs4434553 SNPs were positively associated with the risk of NAFLD(adjusted P_(trend)=0.012).Conclusions In this Chinese Han population,the rs4434553 polymorphism in TFR2 may be an independent influencing factor associated with the susceptibility to NAFLD.The ageing effect on the development of NAFLD may be inhibited by SNPs rs10247962 and rs1052897.展开更多
基金supported by the National Natural Science Foundation of China[grant number 81473047]the Natural Science Foundation of Fujian Province[grant number 2019J01316].
文摘Background Iron overload is frequently observed in non-alcoholic fatty liver disease(NAFLD).Transferrin receptor 2(TFR2)is an important key factor in iron regulation.We aimed to investigate whether TFR2 single nucleotide polymorphisms(SNPs)contribute to susceptibility to NAFLD in a Chinese Han population.Methods Five tag SNPs(rs10247962,rs4434553,rs2075672,rs1052897,and rs3757859)in the TFR2 gene were selected and genotyped in a case–control study on participants who visited two affiliated hospitals of Fujian Medical University between June 2011 and August 2017.Propensity score matching and inverse probability of treatment weighting analyses were used to verify the risk associated with TFR2 SNPs.Results Logistic regression analyses suggested that subjects with the rs4434553 GA or GG genotype had a lower risk of NAFLD than those carrying the AA genotype(odds ratio=0.630,95%confidence interval=0.504–0.788).Moreover,the rs4434553 GA or GG genotype was negatively correlated with body mass index,hepatic steatosis index,and serum ferritin(b=-0.363,P=0.008;b=-1.040,P=0.009;b=-35.258,P=0.015,respectively),and positively associated with serum hepcidin level(b=35.308,P<0.001).Moreover,rs10247962 and rs1052897 had multiplicative interactions with age in relation to the risk of NAFLD(P for interactions,0.041 and 0.034,respectively).The cumulative effects of the rs10247962,rs1052897,and rs4434553 SNPs were positively associated with the risk of NAFLD(adjusted P_(trend)=0.012).Conclusions In this Chinese Han population,the rs4434553 polymorphism in TFR2 may be an independent influencing factor associated with the susceptibility to NAFLD.The ageing effect on the development of NAFLD may be inhibited by SNPs rs10247962 and rs1052897.
