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目的研究转化生长因子β1(TGF-β1)第1外显子+869T/C、+915G/C基因多态性与广西地区食管癌的关系。方法采用序列特异性引物聚合酶链反应(PCR-SSP)技术,检测118例食管癌患者和130例正常对照组TGF-β1的基因多态性,同时采用酶联免疫吸附试验(ELISA)检测血清TGF-β1水平。结果食管癌患者血清TGF-β1水平显著高于对照组(P<0.01),TGF-β1基因+915G/C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有统计学意义(P<0.05),等位基因频率的相对风险分析发现,C等位基因携带者患食管癌的风险是G等位基因的3.077倍(OR=3.077,95%CI1.336~7.087),携带C等位基因食管癌患者血清TGF-β1水平显著高于不携带者[(55.37±9.76)μg/Lvs(48.29±8.29)μg/L,P<0.05];而TGF-β1基因+869T/C多态性在食管癌组和正常人群中的分布差异无统计学意义(P>0.05)。结论TGF-β1基因+915G/C多态性与食管癌的发病具有相关性,其中C等位基因可能是食管癌发病的遗传易感基因;携带C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食管癌的发病风险。
Objective To investigate the relationship between the exon 1 + 869T / C and + 915G / C polymorphisms of transforming growth factor β1 (TGF-β1) and esophageal cancer in Guangxi. Methods The gene polymorphisms of TGF-β1 in 118 esophageal cancer patients and 130 normal controls were detected by polymerase chain reaction-specific primer-polymerase chain reaction (PCR-SSP), and the serum levels of TGF-β1 were detected by enzyme linked immunosorbent assay (ELISA) TGF-β1 levels. Results The serum level of TGF-β1 in esophageal cancer patients was significantly higher than that in the control group (P <0.01). The allele and genotype frequencies of TGF-β1 + 915G / C polymorphism in the two groups were statistically different (P <0.05). The relative risk analysis of allele frequency showed that the risk of esophageal cancer was 3.077 times (OR = 3.077, 95% CI1.336-7.087) in the G allele of C allele carriers, The serum levels of TGF-β1 in patients with C allele esophageal cancer were significantly higher than those without carriers [(55.37 ± 9.76) μg / L vs 48.29 ± 8.29 μg / L, P <0.05] C polymorphism in esophageal cancer and normal population distribution was not statistically different (P> 0.05). Conclusion The polymorphism of TGF-β1 gene + 915G / C is associated with the pathogenesis of esophageal cancer. The C allele may be the genetic predisposition to esophageal cancer. The individuals with C allele may be involved in the pathogenesis of esophageal cancer by promoting the expression of TGF-β1 Which in turn increases the risk of esophageal cancer.