浅表性膀胱移行细胞癌复发与CDH1基因启动子C/A编码区单核苷酸多态性的关系

Association between the recurrence of superficial transitional cell carcinoma of bladder and the C/A single nucleotide polymorphism of CDH1 gene promoter

目的探讨CDH1基因启动子160C/A编码区单核苷酸多态性(cSNP)和浅表性膀胱移行细胞癌(STCCB)的复发之间的关系。方法健康对照组50例,无复发STCCB组33例,复发STCCB组28例,其中复发组按复发后有无临床分期和病理分级的升高分为进展组(10例)和非进展组(18例);PCRRFLP技术检测各组样本CDH1基因启动子160位点基因型。结果复发STCCB组该位点A等位基因频率(0.66)高于无复发STCCB组(0.48),P<0.05,差异有统计学意义;携带A等位基因的STCCB患者治疗后复发的危险性高于C等位基因携带者,OR值3.54,95%CI为1.52～5.73。结论CDH1基因启动子160A等位基因与浅表性膀胱移行细胞癌的复发密切相关。

Objective To investigate the association between the CDH1 gene promoter single nucleotide polymorphism and the recurrence of superficial transitional cell carcinoma of bladder (STCCB).Methods Normal population (n=50) and patients with STCCB (n=85) were observed.In STCCB group,all cases received TUR-Bt and following intravesical instillation chemiotherapy.After a follow-up of 5 years,STCCB group was divided into recurrence subgroup and non-recurrence subgroup according to the results of follow-up,and the recurrence subgroup was assigned into advance group (with advance of clinical stage and pathological grade) and non-advance group (without advance of clinical stage and pathological grade).The genotypes at 160 position of CDH1 gene promoter in STCCB patients and normal population were detected by PCR-RFLP.Results The A allele frequencies at -160 position of CDH1herin gene promoter were higher in recurrence subgroup of STCCB (0.66) than in non-recurrence subgroup (0.48), P< 0.05 and A-allele carriers with STCCB had a higher relative risk of recurrence (OR= 3.54,95% CI 1.52- 5.73) compared to C-only carriers.Conclusion A C/A single nucleotide polymorphism at position -160 from the transcription start site of CDH1herin gene promoter was closely related to the recurrence of STCCB.