基于Keap1基因多态性的肾透明细胞癌分子标志物的研究

发布时间：2019-01-10 15:15

【摘要】：目的:探讨Keap1基因单核苷酸多态性与肾透明细胞癌(clear cell renal cell carcinoma,ccRCC)的相关性,为临床诊疗提供有效的分子靶点。方法:采集ccRCC组织108例与正常对照肾组织86例,采用聚合酶链式反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)和基因测序技术检测Keap1基因单核苷酸多态性,判读两组样本基因型,实时荧光定量PCR法检测Keap1基因在两组中的表达情况。结果:Keap1基因rs1048289的不同基因型与等位基因频率在肿瘤组和对照组之间的分布不同,差异均有统计学意义(P0.05)。AA基因型及A等位基因携带者患肾透明细胞癌的风险明显升高,AA基因型(OR=2.292,95%CI:1.159~4.533,P0.05)及A等位基因(OR=2.067,95%CI:1.280~3.342,P=0.001)为肾透明细胞癌患病的危险因素。肿瘤组Keap1基因表达量比对照组明显降低(P0.05),但不同基因型样本间Keap1基因表达量无明显差异(P0.05)。结论:Keap1基因rs1048289与肾透明细胞癌患病显著相关,有望成为肾透明细胞癌早期诊断与基因治疗的有效分子靶点。
[Abstract]:Objective: to investigate the association of single nucleotide polymorphism of Keap1 gene with (clear cell renal cell carcinoma,ccRCC in renal clear cell carcinoma and to provide effective molecular targets for clinical diagnosis and treatment. Methods: the single nucleotide polymorphisms of Keap1 gene were detected by polymerase chain reaction-restriction fragment length polymorphism (polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP) and gene sequencing in 108 cases of ccRCC and 86 cases of normal renal tissues. The genotypes of two groups of samples were analyzed and the expression of Keap1 gene in the two groups was detected by real-time fluorescence quantitative PCR. Results: the distribution of different genotypes and alleles of Keap1 gene rs1048289 was different between tumor group and control group. All the differences were statistically significant (P0.05) the risk of renal clear cell carcinoma was significantly increased in). AA genotype and A allele carrier, and AA genotype (OR=2.292,95%CI:1.159~4.533,) was significantly higher in patients with renal clear cell carcinoma (RCC). Allele A (P 0.05) and allele A (OR=2.067,95%CI:1.280~3.342,P=0.001) were risk factors for clear cell carcinoma of kidney. The expression of Keap1 gene in tumor group was significantly lower than that in control group (P0.05), but there was no significant difference in Keap1 gene expression among different genotypes (P0.05). Conclusion: Keap1 gene rs1048289 is significantly associated with renal clear cell carcinoma, which may be an effective molecular target for early diagnosis and gene therapy of renal clear cell carcinoma.
【作者单位】：天津市口腔医院暨南开大学口腔医院中心实验室;天津医科大学第二医院泌尿外科;
【分类号】：R737.11

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