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目的检测转化生长因子β1(TGF-β1)启动子区C-509T位点的变异,探讨其与非酒精性脂肪性肝病(NAFLD)的关系。方法 PCR扩增目的基因,采用PCR-RFLP法鉴定TGF-β1-509C/T基因型。结果①NAFLD组(147例)和正常对照组(93例)各基因型及等位基因未显示出有何差异(P>0.05)。②单纯性脂肪肝(SFL)组和非酒精性脂肪性肝炎(NASH)组都是以CT基因型为主,但NASH组CC基因型(27.4%)及等位基因C(54.1%)的频率高于TT基因型(19.2%)及等位基因T(45.9%),SFL组TT基因型(21.6%)及等位基因T(58.8%)的频率高于CC基因型(4.1%)及等位基因C(41.2%),各组比较差异有统计学意义(P<0.05)。结论 TGF-β1启动子区-509位点C/T多态性与NAFLD发病无相关性,但可能影响其疾病的进展程度。
Objective To detect the mutation of C-509T in promoter region of transforming growth factor-β1 (TGF-β1) and to explore its relationship with non-alcoholic fatty liver disease (NAFLD). Methods The target gene was amplified by PCR, and the genotype of TGF-β1-509C / T was identified by PCR-RFLP. Results ① There was no difference between genotypes and alleles in NAFLD group (n = 147) and normal control group (n = 93) (P> 0.05). ② The genotypes of CT were predominant in SFL group and non-alcoholic steatohepatitis group (NASH), but the frequencies of CC genotype (27.4%) and allele C (54.1%) in NASH group The frequency of TT genotype (21.6%) and allele T (58.8%) in SFL group was higher than that in CC genotype (4.1%) and higher than TT genotype (19.2%) and allele T (45.9% The gene C (41.2%) was significantly different in all groups (P <0.05). Conclusion The C / T polymorphism at the -509 locus in TGF-β1 promoter region has no correlation with the incidence of NAFLD, but it may affect the progression of the disease.