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目的:探讨广西地区人群鼠双微粒体-2基因(MDM-2)启动子区309位点单核苷酸多态性(SNP)与肝细胞癌(hepatocellular carcinoma,HCC)发病年龄和发病风险的关系。方法:运用聚合酶链反应-限制性片段长度多态性方法,对985例HCC病例和992例非肿瘤对照者的MDM-2SNP309位点(T>G,rs2279744)基因型进行检测,并分析该SNP与HCC发病年龄和发病风险的关系。结果:经年龄、性别、民族、吸烟、饮酒、HBV及HCV感染等因素校正后,MDM-2SNP309位点与HCC发病风险之间无统计学关联(TG vs TT:OR=1.19,95%CI:0.86～1.65;GG vs TT:OR=1.28,95%CI:0.89～1.85;TG+GGvs TT:OR=1.22,95%CI:0.90～1.66)。在女性HCC患者中,与携带MDM-2SNP309位点TG+GG基因型的女性HCC患者相比(44.8岁),携带TT基因型的女性患者HCC发病年龄提前4.6岁(49.4岁),Log-rank检验:χ2=7.372,P=0.007。在男性患者中未发现此类似结果。结论:MDM-2SNP309位点多态性可能对HCC的发病风险无单独效应作用,但其TT基因型可能与女性HCC的发病年龄提前有关联。本研究结果需要大样本量的研究进一步验证。
OBJECTIVE: To investigate the association between single nucleotide polymorphism (SNP) at 309 of promoter region of murine dual-microsomal-2 gene (MDM-2) and the onset age and risk of hepatocellular carcinoma (HCC) relationship. Methods: The genotypes of MDM-2 SNP309 (T> G, rs2279744) in 985 HCC cases and 992 non-tumor controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Relationship between the age of onset of HCC and the risk of developing HCC. Results: There was no significant correlation between the SNP309 locus and the risk of developing HCC after adjustment for age, sex, ethnicity, smoking, drinking, HBV and HCV infection (TG vs TT: OR = 1.19, 95% CI: 0.86 to 1.65; GG vs TT: OR = 1.28, 95% CI: 0.89 to 1.85; TG + GGvs TT: OR = 1.22, 95% CI: 0.90 to 1.66). In women with HCC, women with TT genotype had an earlier onset of HCC (49.4 years) than women with HCC carrying the TG + GG genotype of SNP309 at MDM-2 (44.8 years), Log-rank Test: χ2 = 7.372, P = 0.007. No similar results were found in male patients. Conclusion: The polymorphism of SNP309 at MDM-2 may not have a single effect on the risk of developing HCC, but its TT genotype may be associated with the early age of onset of HCC in women. The results of this study require further validation of large sample size studies.