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摘要:目的:探讨EZH2(en hancer of zeste homolog 2)基因单核苷酸多态性(SNPs)与结直肠癌(CRC)遗传易感性的相关性。 方法:用病例-对照方法分析EZH2基因的2个SNPs位点(rs887569与rs1880357)在中南地区汉族人群中的分布。提取96例CRC患者与100例体检健康者的外周血DNA;用聚合酶链式反应-限制性片段长度多态性法(PCR-RFLP)检测EZH2基因型并计算相应等位基因频率;DNA测序验证基因分型结果。 结果:CRC组与健康对照组年龄分布(t=0.693,P=0.489)与性别构成(χ2=0.403,P=0.526)差异无统计学意义。CRC组与健康对照组EZH2基因rs887569位点与rs1880357位点基因频率分布均符合Hardy-Weinberg平衡(P均>0.05),证明所观察的样本具有群体代表性。EZH2基因rs887569位点TT、CC和TC基因型(χ2=1.531,P=0.465)及rs1880357位点GG、CC和GC基因型(χ2=0.670,P=0.413)在CRC患者和健康对照者间分布差异无统计学意义。对等位基因而言,rs887569位点C>T与rs1880357位点C>G等位基因分布在CRC患者与健康对照者间差异亦无统计学意义(OR=0.875,95%CI:0.488~1.566,P=0.667;OR=0.793,95%CI:0.403~1.563,P=0.503)。 结论:EZH2基因rs887569与rs1880357 SNPs位点多态性可能与CRC发病风险无关。 相似文献
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目的探讨FTO(fatmassandobesityassociated)基因单核苷酸多态性(singlenucleotidepolymorphism,SNP)与中国人群Ⅱ型糖尿病(TypeⅡDiabetesMellitus,T2DM)易感性的关系。方法利用SequenomMassArray。iPLEX系统对238例T2DM患者及239例健康对照的FTO基因单核苷酸多态性位点rs8050136进行基因分型,并对检测结果根据共显性、显性模型、超显性和隐性模型进行x^2检验和非条件Logistic回归分析。结果FTO基因rs8050136位点在病例组和对照组的基因型频率分布差异在显性模型和超显性模型中有显著性(x^2=8.603,P:0.003;x^2=5.428,p=-0.02)。相对CC基因型而言,CA杂合型和CA—AA基因型均能增加T2DM发病的危险陛,(OR=1.751,95%CI:1.129~2.717,P=0.012;0R1.915,95%CI:1.241~2.954,P=0.003);而磋目间翔塑豁蛳数铆鼬有显著陡差异(x^2=10.614,P=0.001),相对于C位点而言,A位点是T2DM的危险等位位点,(OR=1.933,95%CI:1.298~2.880,P=0.001)。结论FTO基因单核苷酸多态性rs8050136与T2DM的发病风险相关,CA杂合型和CA—AA基因型可显著增加T2DM的发病风险。 相似文献
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IL-1B基因-31位点基因多态性与胃癌的关系 总被引:1,自引:0,他引:1
目的研究白介素1B(interleukin-1B,IL-1B)基因启动子区-31位点基因多态性在正常人群和胃癌患者中的分布,分析IL-1B-31基因多态性分布是否与性别有关,探讨IL-1B-31基因多态性与胃癌发生的关系。方法收集101例胃癌患者和113名正常健康人外周血标本,提取DNA,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测IL-1B启动子区-31位点基因多态性(C→T)。结果IL-1B基因-31位点基因多态性在正常人群和胃癌患者中的分布无显著性差异,与性别无关,携带-31C等位基因可增加患胃癌的危险性。结论IL-1B-31位点基因多态性可能与胃癌的发生无关。 相似文献
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目的 探讨单核苷酸多态性与胃癌易感性的相关性.方法 应用基因测序仪对120例胃癌患者与112例健康对照者的血样EZH2rs734004、r734005、rs2072407、rs6464926及rs12670401多态性进行测序,再应用组织芯片技术与免疫组化检测80例同一来源胃癌组织与24例癌旁正常胃黏膜组织EZH2蛋白的表达情况.结果 rs12670401最小等位基因C与rs6464926最小等位基因T增加,其胃癌发生风险较大(OR>1),而其余三种多态性则会降低胃癌发生风险.经Codominant模型、Dominant模型及Recessive模型分析,rs12670401CC与rs6464926TT构成比显著高于对照组,可增加胃癌的发生风险(OR>1),胃癌患者中杂合基因rs2072407TC、rs734005TC及rs734004CG构成比均显著低于对照组,可降低胃癌的发生风险(OR<1).结论 EZH2基因单核苷酸多态性与胃癌易感性存在较为紧密的关系,且不同SNP等位基因对胃癌发生具有不同影响. 相似文献
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目的评价围手术期吡柔比星膀胱灌注预防非肌层浸润性膀胱癌术后复发的疗效。方法将80例经尿道膀胱肿瘤电切术(TUR-BT)治疗的非肌层浸润性膀胱癌患者随机分为两组。治疗组38例,应用吡柔比星30 mg+5%葡萄糖40 ml,术前30 min膀胱灌注,而后行TUR-BT;术后24 h内吡柔比星40 mg+5%葡萄糖40 ml即刻灌注1次,此后1次/周,共8周;而后1次/月,至术后1年。对照组42例,TUR-BT术后2周开始行吡柔比星40 mg+5%葡萄糖40 ml膀胱灌注,1次/周,共8周;而后1次/月,至术后1年。所有患者术后均随访2年,行尿常规、尿脱落细胞、泌尿系彩超、静脉肾盂造影、膀胱镜检查等观察肿瘤有无复发。结果 80例患者均获得随访,其中治疗组复发1例,复发率2.6%;对照组复发8例,复发率19.0%。两组复发率相比差异有统计学意义(P0.05)。术后可见血尿6例(治疗组3例,对照组3例),尿道刺激征5例(治疗组3例,对照组2例),尿道狭窄2例(治疗组1例,对照组1例)。复发患者多为膀胱多发肿瘤,而且肿瘤直径多大于2.5 cm,复发时间在8~15个月之间。结论围手术期吡柔比星膀胱灌注有助于确定肿瘤范围,指导手术治疗,并减少残存肿瘤种植,是预防非肌层浸润性膀胱癌术后复发的有效方案。 相似文献
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目的 探讨N-乙酰基转移酶2(NAT2)基因多态性与肺癌易感性的关系.方法 应用自动实时荧光Light-Cycler技术,分析138例肺癌患者和112例健康人NAT2 4个位点的基因多态性,比较肺癌患者与对照组间频率差异.结果 肺癌组(吸烟者)NAT2慢乙酰化基因型频率与对照组比较差异有统计学意义(x2=7.97,P<0.05),并使患肺癌的危险度提高了3.12倍(P<0.05);肺癌组(非吸烟者)NAT2慢乙酰化基因型频率与对照组比较差异无统计学意义(x2=2.88,P>0.05).结论 携带NAT2慢乙酰化基因型的吸烟者可能是肺癌的高危人群. 相似文献
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Zilfalil BA Hoh BP Nizam MZ Liza-Sharmini AT Teh LK Ismail R 《Journal of clinical pharmacy and therapeutics》2006,31(6):637-640
BACKGROUND: Seventeen single nucleotide polymorphisms (SNPs) have been identified so far, within the beta-2 receptor (beta(2) AR) gene. The presence of so many SNPs within the beta(2) AR gene causes a problem, for those studying beta(2) AR pharmacogenetics, in relation to which SNPs to choose. Most of the work has focused on the three common SNPs within the coding block (alleles 16, 27 and 164) and the techniques developed have been for these three functionally important alleles. OBJECTIVE: We report an improved polymerase chain reaction (PCR)-based method for the simultaneous detection of five functionally important beta(2) AR alleles, namely beta 16A/G, beta utr-20C/T, beta 27C/G, beta utr-47C/T and beta 164C/T. METHODS: Genomic DNA was used as a template for duplex and triplex PCR to detect the polymorphic sites of the five alleles. RESULT: DNA sequencing analysis confirmed the specificity of this PCR method. CONCLUSION: This simplified single-tube multiplexed PCR assay provides an easier, faster and more cost-effective method than those available for studying the specified polymorphisms of the beta(2)AR gene. 相似文献
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目的探讨2型糖尿病(T2DM)遗传易感性与CAPN-10基因多态性的关系。方法采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)技术对100例T2DM患者(病例组)和100例健康者(对照组)CAPN-10基因SNP19(rs3842570)、SNP43(rs3792267)和SNP63(rs5030952)多态性位点进行基因分型。结果病例组CAPN-10基因43位点的GG基因型频率和G等位基因频率显著高于对照组,差异有统计学意义(P<0.05);19位点和63位点的基因型频率、等位基因频率在病例组与对照组分布差异均无统计学意义(P>0.05)。结论 CAPN-10基因SNP43(rs3842570)位点与T2DM的发生有相关性,而SNP19(rs3842570)和SNP63(rs5030952)位点则与T2DM的发生无相关性。 相似文献
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Gang Xu Ruohui Huang Wei Xia Bo Jiang Guancheng Xiao Yanmin Li 《Journal of clinical laboratory analysis》2021,35(11)
BackgroundNLRP3 inflammasome as a component of immune system has been found related to several cancers, but no study has assessed NLRP3 polymorphisms on risk of bladder cancer (BC). We aim to investigate whether NLRP3 polymorphisms are associated with the risk and clinical features of bladder cancer (BC) in a Chinese population.MethodsGenotype frequency of two commonly studied NLRP3 SNPs (rs10754558 and rs35829419) was examined in 154 patients with BC and the 308 healthy controls. NLRP3 gene polymorphisms were genotyped by polymerase chain reaction‐restriction fragment length polymorphism method.ResultsThe distribution frequencies of GG, AG+GG, GG, and G allele in NLRP3 (rs10754558) genotypes were significantly different between case and control group (OR = 2.296, P = .022; OR = 1.598, P = .020; OR = 1.998, P = .049; OR = 1.557, P = .006), but no statistical difference existed for rs35829419. Among smokers and alcohol drinkers, for rs10754558, individuals with AG, GG, and GG+AG genotypes had a higher BC risk compared with individuals with AA; for rs35829419, individuals with variant genotypes (AG and GG+AG) had a stronger risk of developing BC compared with individuals with AA (all P < .05). In stratified analyses of tumor size and tumor node metastasis, AG or GG genotypes of rs10754558 and rs35829419 SNPs were associated with BC risk (both P < .05).ConclusionNLRP3 polymorphisms (rs10754558 and rs35829419) were related to BC risk and tumor size and lymph node metastasis, especially among smokers and alcohol drinkers. 相似文献
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目的运用系统回顾和Meta分析的方法评价CYP2A6基因多态性与S-1化疗获益的关系。方法检索Pubmed、CNKI、CBM和万方中文数据库,按照纳入和排除标准筛选关于CYP2A6基因与S-1化疗获益相关的病例对照研究或队列研究,检索时限为数据库建库至2014年6月。使用Rev Man 5.3和Stata 11.2进行统计分析。结果共纳入7篇文献进入分析,文献质量评价结果显示纳入研究质量良好。一般资料结果显示,在东方人种中,CYP2A6*1/*1(W/W)频率平均为25.6%;CYP2A6*4A,*7,*9,*10存在一种突变(W/V)频率平均为48.8%,CYP2A6*4A,*7,*9,*10存在2种突变(V/V)频率平均为25.6%。Meta分析发现:1突变型V/V与野生型W/W及突变型W/V患者的S-1化疗敏感性差异有统计学意义,合并优势比(OR)为0.27(95%CI:0.14~0.51);2野生型W/W与突变型W/V及V/V生存HR差异有统计学意义,合并HR值为1.71(95%CI:0.99~2.94)。结论 CYP2A6*4A,*7,*9,*10与晚期肿瘤患者S-1化疗获益存在一定关联性。但因为纳入研究的数量有限,需要有大样本、多变量的分析研究来进一步证实和完善本研究结果。 相似文献
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PPARG基因单核苷酸多态性与2型糖尿病血脂异常的相关性研究 总被引:2,自引:0,他引:2
目的研究PPARG基因单核苷酸多态性(SNPs)与中国汉族2型糖尿病(DM)及血脂异常的关系。方法测定593例2型DM患者及626名正常健康者SNPsrs1801282、rs12636454和rs11128597基因型,分析其与2型DM及血脂水平的关系。基因分型采用单碱基延伸法(SBE)。结果2型DM组SNPs rs1801282、rs12636454和rs11128597基因型及等位基因频率分布与对照组间差异均无统计学意义(P〉0.05)。2型DM组中rs1801282AB+BB基因型总胆固醇(TC)、血糖和低密度脂蛋白胆固醇(LDL—C)水平显著高于AA基因型(P均〈0.01)。rs1l2636454AA基因型三酰甘油(TG)水平高于AB+BB基因型(P〈0.05)。rs11128597AA基因型血糖水平高于AB+BB基因型(P〈0.01)。结论PPARG基因与中国汉族人2型DM无直接相关,但可能参与2型DM的血糖水平和脂质代谢的调节。 相似文献
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目的探讨位于基因BTNL2(butyrophilin-like2)位点chr6-32478813和chr6-32470723的单核苷酸多态性(single nucleotide polymorphisms,SNP)与广东汉族女性乳腺癌易感性的关系。方法采用MassARRAY-IPLEX SNP分型技术,以南方医科大学南方医院的216例广东汉族女性乳腺癌患者及216例同期女性健康体检者为研究对象,对以上2个多态性位点进行基因分型,利用χ2检验统计分析病例组和对照组的基因型频率有无差异,非条件Logistic回归计算比数比(odds ratio,OR)和95%可信区间(confidence interval,CI),由此评价这两个位点多态性与乳腺癌的相关性。随后,将病例组按雌激素受体(estrogen receptor,ER)和孕激素受体(progesterone receptor,PR)免疫组化结果的不同进行进一步的分层分析。结果位点chr6-32478813和chr6-32470723基因型分布频率在病例-对照分组分析中无统计学差异(P〉0.05);而进一步的分析发现这两位点的基因型分布频率在ER阴性(-)与ER阳性(+)乳腺癌分组中有一定的差别,但统计学意义不显著;在PR阴性(-)与PR阳性(+)分组中,差异有统计学意义(P〈0.05),携带杂合基因型(chr6-32478813,CT;chr6-32470723,GA)的个体更倾向于PR(-)乳腺癌(OR=0.53,95%CI:0.29~0.94,P=0.028;OR=0.44,95%CI:0.19~0.99,P=0.043)。结论 BTNL2基因chr6-32478813和chr6-32470723位点多态性与乳腺癌患病风险均无明显相关性,但两位点的杂合基因型均与乳腺癌组织PR阴性(-)明显相关。 相似文献
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目的研究PPARG基因单核苷酸多态性(SNPs)与中国汉族2型糖尿病(DM)及血脂异常的关系。方法测定593例2型DM患者及626名正常健康者SNPs rs1801282、rs12636454和rs11128597基因型,分析其与2型DM及血脂水平的关系。基因分型采用单碱基延伸法(SBE)。结果2型DM组SNPs rs1801282、rs12636454和rs11128597基因型及等位基因频率分布与对照组间差异均无统计学意义(P>0.05)。2型DM组中rs1801282 AB+BB基因型总胆固醇(TC)、血糖和低密度脂蛋白胆固醇(LDL-C)水平显著高于AA基因型(P均<0.01)。rs12636454 AA基因型三酰甘油(TG)水平高于AB+BB基因型(P<0.05)。rs11128597 AA基因型血糖水平高于AB+BB基因型(P<0.01)。结论PPARG基因与中国汉族人2型DM无直接相关,但可能参与2型DM的血糖水平和脂质代谢的调节。 相似文献
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目的探讨BRCA1基因启动子区rs799906位点和编码区rs799917位点单核苷酸多态性(single nucleotide polymorphism,SNP)与广东汉族女性散发性乳腺癌易感性的关系。方法利用Sequenom Mass Array iPLEX GOLD系统对107例散发性乳腺癌患者及93例健康对照者的BRCA1基因两个SNP位点(rs799906,rs799917)进行检测,并对检测结果进行χ2检验和非条件Logistic回归分析。结果 rs799906位点TT、TC和CC三种基因型在病例组和对照组的分布频率有差异(χ2=8.407,P=0.018)。相对TT基因型而言,TC杂合型能增加乳腺癌发生的危险性(OR=2.566;95%CI:1.101~5.983;P〈0.05),但等位基因T和C的频率分布无显著差异(χ2=2.169,P=0.141)。rs799917位点CC、CT和TT三种基因型的频率和等位基因C和T的频率在病例组和对照组的分布均无显著性差异(χ2=3.994,P=0.136;χ2=0.903,P=0.342)。结论 BRCA1多态性位点rs799906TC杂合型与散发性乳腺癌发病风险有相关性;而rs799917位点多态性与散发性乳腺癌发病风险无相关性。 相似文献
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Zhuoxin Zhang Yijin Chen Qingqing Zhuo Changqing Deng Yang Yang Wen Luo Shixun Lai Hui Rao 《Journal of clinical laboratory analysis》2022,36(12)
BackgroundThe susceptibility to some cancers is linked to genetic factors, such as aldehyde dehydrogenase 2 (ALDH2) polymorphisms. The relationship between ALDH2 rs671 and colorectal cancer (CRC) is not clear in Hakka population.MethodsBetween October 2015 and December 2020, a total of 178 CRC patients and 261 controls were recruited. ALDH2 rs671 was genotyped in these subjects, medical records (smoking history, drinking history and blood cell parameters) were collected, and the relationship between these information and CRC was analyzed.ResultsThe proportion of the ALDH2 rs671 G/G, G/A, and A/A genotype was 48.3%, 44.4%, and 7.3% in patients; 62.1%, 34.1%, and 3.8% in controls, respectively. The difference of ALDH2 genotypes distribution between cases and controls was statistically significant (p = 0.011). The higher percentage of smokers and alcoholics, higher level of neutrophil to lymphocyte ratio (NLR), platelet count, and platelet to lymphocyte ratio (PLR), and lower level of lymphocyte count, lymphocyte to monocyte ratio (LMR), and mean hemoglobin concentration were observed in patients. Logistic regression analysis indicated that ALDH2 rs671 G/A genotype (G/A vs. G/G) (adjusted OR 1.801, 95% CI 1.160–2.794, p = 0.009) and A/A genotype (A/A vs. G/G) (adjusted OR 2.630, 95% CI 1.041–6.645, p = 0.041) in the co‐dominant model, while G/A + A/A genotypes (G/A + A/A vs. G/G) (adjusted OR 1.883, 95% CI 1.230–2.881, p = 0.004) in the dominant model were risk factors for CRC.ConclusionsIndividuals carrying ALDH2 rs671 A allele (G/A, A/A genotypes) may be at increased risk of colorectal cancer. 相似文献
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Weijie Wang Xinchang Wang Kepeng Yang Yongsheng Fan 《The Journal of international medical research》2021,49(5)
ObjectiveAbnormal B cell lymphoma-2 (Bcl-2) and interleukin-19 (IL-19) expression is closely related to systemic lupus erythematosus (SLE) pathogenesis. We aimed to determine whether BCL2 polymorphisms and a single nucleotide polymorphism (SNP) of IL19 are significantly associated with SLE susceptibility and if this is affected by synergism between IL19 and BCL2 genotypes.MethodsThis observational cohort study randomly enrolled 150 patients with SLE and 150 healthy controls. Major BCL2 and IL19 allele and genotype distributions were examined in the two groups. The IL19 SNP rs2243188 was determined using the TaqMan-MGB probe method. The synergistic effect between BCL2 and IL19 and clinical symptoms of SLE was also analyzed.ResultsThe distribution of major BCL2 genotypes and common BCL2 alleles, especially for genotypes 191, 193, and 197, differed significantly between patients and controls. A significant difference in the dominant genetic model was also observed between groups, but not in the recessive model. The risk of disease in individuals who carried both 195-bp BCL2 and 138-bp IL19 susceptibility alleles was higher than in those carrying either allele alone.ConclusionsThis preliminary study suggested that BCL2 polymorphisms and the IL19 SNP rs2243188 are closely related to the pathogenesis of SLE. 相似文献
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目的研究自噬相关基因ATG4A rs807185位点单核苷酸多态性与重庆地区人群肺癌风险的相关性。方法收集225例癌症患者(病例组)和257例健康对照者(对照组)的血液标本及相关病历资料,采用聚合酶链式反应-限制性片段长度多态性分析方法对自噬相关基因ATG4A的rs807185位点进行基因分型,比较病例组和对照组的基因型差异;按照性别、年龄、吸烟史、饮酒史及肺癌病理分型等因素进行分层分析。结果对照组rs807185位点的突变A等位基因频率高于病例组(37.7%vs.24.9%,P=0.006),校正优势比为1.989(95%置信区间:1.223~3.236)。与野生T等位基因相比,ATG4A基因rs807185位点的突变A等位基因与肺癌风险降低相关(校正优势比=0.605,95%置信区间:0.456~0.803,P<0.001)。分层分析表明,在不同年龄、吸烟、饮酒及病理型别中,rs807185位点的纯合突变基因型(AA)均可降低肺癌的患病风险。结论在重庆地区人群中,ATG4A基因rs807185突变体与肺癌风险的降低显著相关,表明ATG4A基因rs807185AA突变可能是肺癌的保护因子。 相似文献
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目的探讨细胞色素P450(cytochrome P450, CYP450)家族中CYP2C9的单核苷酸多态性(single nucleotide polymorphisms, SNP)位点rs1057910和rs1799853以及维生素K环氧化物还原酶复合物亚基1(vitamin K epoxide reductase complex subunit 1, VKORC1)的rs9923231 SNP位点在广东汉族的分布,为华法林(warfarin)个体化用药(personalized medicine)提供循证医学依据.方法利用Sequenom MassArray? iPLEX GOLD系统对215例广东地区人群的rs1057910,rs1799853和rs9923231三个位点进行基因分型,并分析各基因型分布频率.结果 rs1799853和rs9923231在广东汉族中无多态性分布,分别只有CC基因型和CT基因型.rs1057910在广东汉族中有两种基因型AA和AC,分布频率分别为0.921和0.079;等位基因A的频率为0.9605,C的频率为0.0395.结论在本研究中由于rs1799853和rs9923231在广东汉族中无多态性分布,基于本研究数据建议广东汉族华法林药物的检测位点应以rs1057910为主. 相似文献
20.
摘要:目的基于术前 血清IL-6、前列腺素E2( PGE2)、TNF-a构建预测膀胱癌术后复发的列线图模型。方法回顾性收集2018年6月至2023年2月临平区第一人民医院收治的348例膀胱癌患者的临床资料,经计算机产生随机数表并以2:1比例将其分为训练集(232例)和验证集(116例)。所有患者均接受随访,将发生复发的患者纳入复发组,未发生复发的患者纳入未复发组。比较训练集复发组、未复发组血清IL-6、PGE2、TNF-a水平及一般资料;用Logistie 回归模型分析训练集膀胱癌术后复发的影响因素,并建立回归方程;用ROC曲线分析术前IL-6 PGE2、TNF-a单独及联合预测膀胱癌术后复发的效能;建立膀胱癌术后复发的风险预测列线图模型,并验证其效能。结果与未复发组比较, 复发组血清IL-6、PGE2、TNF-a水平升高,肿瘤直径增大,多发性肿瘤、肿瘤分期T2~T,肿瘤WHO病理学分级1I~川级的构成比升高,术后规律膀胱灌注的构成比降低(P<0.05)。Logistie 回归分析显示,术前血清IL-6、PGE2、TNF-a、肿瘤分期、肿瘤WHO病理学分级是膀胱癌术后复发的影响因素(P<0.05),并建立Logistic回归方程:Y=1.718X1+2.081X2+ 1.815X3+2.319X.+1.868Xs。ROC曲线显示,术前IL-6、PGE2、TNF-a预测膀胱癌术后复发的最佳截断点分别为0.60 ng/L、57.13 pg/mL、2. 10 ng/mL,三者单独及联合预测膀胱癌的ROC曲线下面积(AUCR0C)分别为0.729、0.743 .0.733和0.825。基于训练集Logistic回归分析结构建立膀胱癌术后复发的风险预测列线图模型,该模型预测训练集验证集的敏感性分别为94.12% .90.20% ,特异性分别为90.06%、87.29% ,AUCROG分别为0.940、0.914 ; Bootstrap法内部验证结果显示,训练集、验证集的C-index分别为0.918( 95% CI:0.824~0.987)、0.901 ( 95% CI:0.835~0.957)。结论术前血清IL-6PGE2、TNF-ax水平是膀胱癌术后复发的影响因素,据此建立的风险预测列线图模型具有良好的预测效能。 相似文献