【摘要】 目的:研究转化生长因子β1(TGF-β1)基因启动子多态性各等位基因及基因型在结直肠癌患者中的分布频率,初步分析基因型及血清水平与结直肠癌的相关性。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,检测120例结直肠癌患者和130例正常对照组TGF-β1的基因多态性,包括TGF-β1基因启动子-800G/A、-509C/T位点,同时采用酶联免疫吸附试验(ELISA)检测血清TGF-β1水平。结果:结直肠癌患者血清TGF-β1水平显著高于对照组(P<0.01)。TGF-β1基因-800G/A位点多态性在结直肠癌组和正常人群中的分布差异无显著性(P>0.05);而TGF-β1基因-509C/T多态性各等位基因及基因型频率在两组人群中的分布差异存在显著性(P<0.05),等位基因频率的相对风险分析发现,T等位基因携带者患结直肠癌的风险是C等位基因的1.580倍(OR=1.580,95%C I:1.109~2.251)。携带T等位基因的结直肠癌患者血清TGF-β1水平显著高于不携带者(54.77±12.65 ng/mLvs44.29±10.24 ng/mL,P<0.01)。结论:TGF-β1基因-509C/T多态性与结直肠癌的发病具有相关性,携带T等位基因的个体可能通过促进TGF-β1的高度表达进而增加了结直肠癌的发病风险。更多还原

【Abstract】 Objective:To study the allele frequencies and genotype distribution of the promoter of transforming growth factor-beta 1(TGF-β1) in patients with colorectal cancer and analyze the association of the genotype frequency with the serum level of TGF-β1 with colorectal cancer.Methods: One hundred and twenty patients with colorectal cancer and one hundred and thirty healthy controls were involved in this study.Allele specific polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) assay was used to determine the genotype TGF-β 1-800G/A and-509C/T,respectively.The serum level of TGF-β1 was determined by enzyme-linked immunosorbent assay(ELISA).Results: The colorectal cancer group showed significantly higher serum level of TGF-β1 than control group(P<0.01).No significant difference was observed among cancer patients and controls in TGF-β1-800G/A genotype frequency(P>0.05),but the difference was significant in TGF-β1-509C/T genotype frequency(P<0.05).The relative risk analysis found that T allele carriers had higher risk of suffering colorectal cancer compared with the C allele carriers(OR=1.580,95%CI:1.109-2.251).The serum level of TGF-β1 in T allele carriers who suffered from colorectal cancer was significantly higher than those patients without T allele mutation(54.77±12.65 ng/mL vs 44.29±10.24 ng/mL,P<0.01).Conclusion: TGF-β 1 gene-509C/T polymorphism is associated with the carcinogenesis of colorectal cancer.The TGF-β1 overexpresison increases the risk of suffering colorectal cancer in T allele carriers.更多还原