【摘要】 背景:RAD18是一种单链DNA结合蛋白,在维持受损DNA的完整性和细胞基因组稳定等方面起有重要作用。目的:研究RAD18基因单核苷酸多态性(SNPs)位点Arg302Gln(rs373572)与结直肠癌易感性及其临床病理特征的关系。方法:提取109例结直肠癌患者和241名健康对照者的外周血基因组DNA,采用PCR测序法对RAD18基因rs373572位点进行基因分型。结果:结直肠癌组与对照组间RAD18基因rs373572位点GG、GA、AA基因型分布差异有统计学意义(P<0.05),结直肠癌组AA基因型频率显著高于对照组(16.5%对8.7%,P<0.05;校正后OR=2.428,95%CI:1.170~5.035),有远处转移的结直肠癌患者GA基因型频率显著高于无远处转移者(75.0%对41.9%,P<0.05;校正后OR=7.764,95%CI:0.927~65.206)。rs373572位点多态性与结直肠癌分化程度、肿瘤部位、Duke分期、淋巴结转移均无相关性(P>0.05)。结论:RAD18基因rs373572位点AA基因型可能是结直肠癌的遗传易感因素,且该位点多态性与结直肠癌的远处转移有关。更多还原

【Abstract】 Background: RAD18 is a single stranded DNA binding protein,which plays an important role in maintaining the integrity of damaged DNA and the genomic stability of cells. Aims: To study the correlation of Arg302Gln( rs373572),a single nucleotide polymorphism( SNP) in RAD18 gene,with the susceptibility and clinicopathological features of colorectal cancer( CRC). Methods: Peripheral blood genomic DNA of 109 CRC patients and 241 healthy subjects were extracted and went through gene sequencing after PCR amplification for RAD18 rs373572 genotyping. Results: Statistically significant differences were found in distribution of RAD18 rs373572 GG,GA and AA genotypes between CRC and control groups( P < 0. 05); the frequency of AA genotype in CRC group was significantly higher than that in control group( 16. 5% vs. 8. 7%,P < 0. 05; adjusted OR = 2. 428,95% CI: 1. 170-5. 035). In CRC group,GA genotype was more frequent in patients with distant metastasis than those without( 75. 0% vs. 41. 9%,P < 0. 05; adjusted OR = 7. 764,95%CI: 0. 927-65. 206). No correlation was found between rs373572 polymorphism and differentiation,location,Duke’s stage and lymph node metastasis of CRC( P > 0. 05). Conclusions: RAD18 rs373572 AA genotype might be a genetic susceptible factor for CRC,and rs373572 polymorphism is correlated with distant metastasis of CRC.更多还原