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目的:探讨IGF2R基因第2020密码子多态(Asn2020Ser)与结直肠癌(CRC)和肝细胞癌(HCC)遗传易感性的关系。方法:采用TaqMan方法检测345例CRC与670名对照以及469例HCC与558名对照的IGF2R Asn2020Ser基因型分布及差异。结果:IGF2R Asn2020Ser基因型分布在CRC-对照和HCC-对照人群间均有显著性差异(P<0.05)。与Asn/Asn基因型相比,Asn/Ser、Ser/Ser和Ser携带者(Asn/Ser和Ser/Ser基因型)的CRC风险分别显著降至0.71倍(95%CI=0.54～0.94,P=0.017)、0.64倍(95%CI=0.42～0.97,P=0.036)和0.69倍(95%CI=0.53～0.90,P=0.008)。类似的,Asn/Ser、Ser/Ser和Ser携带者的HCC风险分别降至0.68倍(95%CI=0.52～0.89,P=0.005)、0.78倍(95%CI=0.52～1.16,P=0.212)和0.70倍(95%CI=0.54～0.90,P=0.006)。结论:IGF2R 2020Ser携带可能对中国人群罹患CRC和HCC具有保护作用。
Objective: To investigate the relationship between the genetic polymorphism of 2020 codon2 (Asn2020Ser) of IGF2R gene and genetic susceptibility to colorectal cancer (CRC) and hepatocellular carcinoma (HCC). Methods: The genotypes and distributions of IGF2R Asn2020Ser in 345 cases of CRC, 670 controls and 469 HCCs and 558 controls were detected by TaqMan method. Results: The distribution of IGF2R Asn2020Ser genotype was significantly different between CRC-control group and HCC-control group (P <0.05). The CRC risk of Asn / Ser, Ser / Ser and Ser carriers (Asn / Ser and Ser / Ser genotypes) were significantly reduced to 0.71 fold (95% CI = 0.54-0.94, P = 0.017), 0.64-fold (95% CI = 0.42-0.97, P = 0.036) and 0.69-fold (95% CI = 0.53-0.90, P = 0.008). Similarly, the HCC risk of Asn / Ser, Ser / Ser and Ser carriers decreased to 0.68-fold (95% CI = 0.52-0.89, P = 0.005) and 0.78-fold (95% CI = 0.52-1.16, P = 0.212 ) And 0.70-fold (95% CI = 0.54-0.90, P = 0.006). Conclusion: IGF2R 2020Ser may have protective effects on CRC and HCC in Chinese population.