中国北方高发区人群ABCB1基因多态性与食管鳞状细胞癌发病风险的关系

Association of ABCB1 gene polymorphisms with esophageal squamous-cell carcinoma in the high risk area of Northern Chinese population

目的分析中国北方高发区人群ABCB1基因多态性与食管鳞状细胞癌(简称鳞癌)发病风险的关系。方法选择安阳肿瘤医院175例食管鳞癌患者(观察组)及安阳地区175例健康志愿者(对照组)。采用限制性片段长度多态性聚合酶链反应技术检测两组外周血ABCB1 rs1045642、rs3789243、rs4148737基因型。采用Phase V2.1构建3个基因型的8个单倍型,采用条件logistic回归模型分析ABCB1基因型和单倍型与食管癌发病风险的关系。结果 ABCB1 rs1045642、rs3789243、rs4148737多态性与食管癌发病风险在观察组和对照组差异无统计学意义。ABCB1 rs1045642 C-rs3789243 T-rs4148737 A单倍型明显降低食管癌的发病风险(P=0.018,OR=1.774,95%CI:1.104~2.850),其余7个单倍型在观察组和对照组差异均没有统计学意义。结论安阳地区ABCB1 rs1045642、rs3789243、rs4148737多态与食管鳞癌发病风险没有明显相关性,但是rs1045642 C-rs3789243 T-rs4148737 A单倍型可能是食管鳞癌的保护因素。

Objective To analyze the association of single nucleotide polymorphisms(SNPs)of ABCB1 gene with esophageal squamous-cell cancer(ESCC)in the high risk area of Northern Chinese population.Methods A total of 175 patients with ESCC(observation group)from Anyang Cancer Hospital and 175 healthy volunteers(control group)from Anyang area were selected.The ABCB1 rs1045642,rs3789243,and rs4148737 genotypes in the peripheral blood of the two groups were detected by the restriction fragment length polymorphic polymerase chain reaction(PCR-RFLP).Phase V2.1 was used to construct 8 haplotypes of 3 genotypes.Conditional logistic regression model was used to analyze the relationship of ABCB1 genotype and haplotype with the risk of esophageal cancer.Results No statistical difference was found in the ABCB1 rs1045642,rs3789243 and rs4148737 polymorphisms or ESCC risk between the observation group and control group.The haplotype ABCB1 rs1045642 C-rs3789243 T-rs4148737 A significantly decreased the risk of ESCC(P=0.018,OR=1.774,95%CI:1.104-2.850).The other seven haplotypes revealed no statistical difference in the observation group as compared with the control group.Conclusion ABCB1 rs1045642,rs3789243,rs4148737 polymorphisms in Anyang area have no obvious correlation with the risk of ESCC,but the haplotype rs1045642 C-rs3789243 T-rs4148737 A may be a protective factor.