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食管癌患者中的分布频率,初步分析其基因型及血清水平与食管癌的相关性.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162例食管癌患者和170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,同时用ELISA法检测血清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-800G/A位点多态性在食管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等位基因携带者患食管癌的风险是C等位基因的1.616倍(OR=1.616,95%CI:1.186～2.200).携带T等位基因的食管癌患者血清TGF-β1水平显著高于不携带者[(51.85±8.73)/ug/L vs(45.08±8.86)/ug/L P＜0.01).结论TGF-β1基因-509C/T多态性与食管癌的发病有相关性,其中T等位.基因可能是食管癌发病的遗传易感基因;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食管癌的发病风险.
Objective To study the relationship of the allele frequencies with genotype distribution of transforming growth factor-beta 1 (TGF-β1) gene promoter polymorphisms in Chinese patients with esophageal cancer,and analyze the association between the serum levels and genotype of TGF-β1 in esophageal cancer patients.Methods The polymorphisms of TGF-β1 gene,including polymorphisms of TGF-β1 gene -800G/A and -509C/T,were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods in 162 patients with esophageal cancer and 170 healthy controls,and the serum level of TGF-β1 was determined by enzyme-linked immunosorbent assay (ELISA).Results The esophageal cancer group showed significantly higher serum levels of TGF-β1 than those of control group ( P <0.01).There were no difference for the distributions of TGF-β1 gene -800G/A polymorphisms between esophageal cancer group and control group,buta significant difference for TGF-β1 -509C/T gene polymorphism was found.The relative risk in the patients suffered from esophageal cancer of C allele was 1.616 times of those of T allele(OR=1.616,95%CI:1.186-2.200).The serum level of TGF-β1 T allele carriers was significantly higher than that of non-T carriers (51.85±8.73μg/L vs 45.08±8.86μg/L, P <0.01).Conclusion TGF-β1 gene -509C/T polymorphism was associated with esophageal cancer,and T allele may be a risk factor for esophageal cancer.The risk of esophageal cancer in TGF-β1 T allele carriers may be increased by enhancing the TGF-β1 expression in the pathogenesis of esophageal cancer.
出处
《临床检验杂志》
CAS
CSCD
北大核心
2005年第4期266-268,共3页
Chinese Journal of Clinical Laboratory Science
基金
广西省青年科学基金(No.0447060)。
