【摘要】 目的探讨E2F转录因子家族基因错义突变与结直肠癌发病风险的相关性。方法寻找E2F转录因子家族基因的错义突变,鉴定汉族人群等位基因频率>0.01的2个突变位点(E2F2的rs2075995和E2F7的rs3829295)。对1 055例结直肠癌(CRC)患者和1 936例健康对照者运用Taq Man基因分型检测,使用Logistic回归评估这2种SNPs与CRC风险的相关性。结果 E2F7的rs3829295与CRC风险显著相关。与TT基因型携带者相比,CT和CT+CC基因型携带者有较低的结直肠癌发生风险(OR分别为0.61(95%CI:0.44~0.85,P=0.003)、0.61(95%CI:0.44~0.84,P=0.003)。根据性别和年龄进行分层分析发现,rs3829295突变者中结直肠癌发生风险男性高于(OR=0.56,95%CI:0.38~0.83,P=0.004)女性(OR=0.73,95%CI:0.43~1.22,P=0.232)。结论 E2F7的错义突变与CRC风险显著相关,E2F7在结直肠癌发病中可能发挥重要作用。更多还原

【Abstract】 Objective To identify the association of missense variants in E2 F family genes with colorectal cancer risk.Methods To look for missense mutations in the E2 F transcription factor family genes,and to determine the two mutation sites( rs2075995 for E2 F2 and rs3829295 for E2 F7) with an allele frequency > 0. 01 in the Han population. Taq Man genotyping was performed in 1 055 patients with colorectal cancer( CRC) and 1 936 healthy controls. Logistic regression was used to assess the association of these two SNPs with CRC risk. Results Rs3829295 of E2 F7 was significantly associated with CRC risk. Compared with TT genotype carriers,CT and CT + CC genotype carriers had a lower risk of colorectal cancer [OR = 0. 61,95% CI:0. 44-0. 85,P = 0. 003 and 0. 61( 95% CI: 0. 44-0. 84,P = 0. 003) ]. A stratified analysis based on gender and age found that men with risk of colorectal cancer in rs3829295 mutations( OR = 0. 56,95% CI: 0. 38-0. 83,P = 0. 004) were higher than women( OR = 0. 73,95% CI: 0. 43-1. 22,P = 0. 232). Conclusion The missense mutation of E2 F7 is significantly associated with CRC risk,and E2 F7 may play an important role in the pathogenesis of colorectal cancer.更多还原