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【目的】探讨生存素Survivin基因启动子区-31C/G单核苷酸多态性与中国华南地区散发性结直肠癌(CRC)遗传易感性的关系。【方法】采用聚合酶链反应-限制性片段长度多态性法(PCR-RFLP)检测华南地区711例健康人和702例CRC的Survivin基因-31C/G位点单核苷酸多态性。【结果】结直肠癌患者CC基因型的频率明显高于对照人群(36.35%vs.26.2%,χ2=17.89,P<0.001),与CC基因型相比,CG、GG基因型和等位基因G携带者的CRC发病风险分别显著下降至0.61倍(95%CI=0.46～0.80,P<0.001)、0.52倍(95%CI=0.38～0.71,P<0.001)和0.58倍(95%CI=0.45～0.74,P<0.001)。【结论】Survivin基因-31C/G多态性与CRC发病风险有关,-31G变异基因型是中国南方人群散发性结直肠癌独立保护因素。
【Objective】 To investigate the relationship between Survivin gene promoter -31C / G SNP and genetic susceptibility to sporadic colorectal cancer (CRC) in South China. 【Methods】 Single nucleotide polymorphisms at -31C / G of Survivin gene in 711 healthy people and 702 CRC patients in South China were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). 【Results】 The frequency of CC genotype in patients with colorectal cancer was significantly higher than that in control subjects (36.35% vs.26.2%, χ2 = 17.89, P <0.001). Compared with CC genotypes, genotypes and alleles of CG and GG (95% CI = 0.46-0.80, P <0.001), 0.52-fold (95% CI = 0.38-0.71, P <0.001) and 0.58-fold 0.45 ~ 0.74, P <0.001). 【Conclusion】 The -31C / G polymorphism of Survivin gene is associated with the risk of CRC. The -31G variant genotype is an independent protective factor of sporadic colorectal cancer in southern China.