Survivin基因启动子区-31C>G功能性多态与卵巢癌遗传易感性的关联研究

摘要

目的 探讨Survivin基因启动子区域-31C>G多态(single nucleotide polymorphism,SNP)与中国北方汉族人群卵巢上皮性癌(epithelial ovarian cancer,EOC)发病易感性的关系.方法 采用聚合酶链式反应-连接酶检测反应(polymerase chain reaction-ligase detection reac-tion,PCR-LDR)技术检测了138例EOC患者和138例健康对照个体survivin基因启动子区-31C>G多态的基因型.结果 病例组三种基因型频率(28.3%、47.1%和24.6%)与对照组(17.4%、46.4%和36.2%)比较,差异有统计学意义(χ2=6.63,P=0.04),病例组C/C基因型的频率明显高于对照人群(P<0.01);与G/G基因型相比,携带C/C基因型能显著增加EOC的发病风险(OR=2.39,95%CI=1.22~4.67).结论 Survivin基因-31C>G多态与EOC发病风险有关,-31G变异基因型可能成为预测中国北方汉族人群卵巢上皮性癌发病风险的独立危险因素.%Objective To investigate the correlation between Survivin gene-31C > G polymorphism and genetic susceptibility to epithelial ovarian cancer ( EOC ) in Han people in north of China. Methods The genotypes of-31C > G polymorphism were detected by polymerase chain reaction-ligase detection reaction ( PCR-LDR ) in 138 EOC patients and 138 healthy subjects. Results The three kinds of genotype frequencies of-31C > G polymorphism in EOC group ( 28. 3% ,47. 1% ,24. 6% ) were significantly different from those in control group ( 17. 4% ,46. 4% ,36. 2% , P < 0. 05 ), and the frequency of C/C gene type in EOC group was significantly higher than that in control group ( P <0. 01 ). As compared with G/G genotype,C/C genotype could obviously increase EOC onset risk ( OR =2. 39,95% CI = 1. 22 ~ 4. 67 ). Conclusion Survivin gene-31C > G polymorphism is related with EOC onset risk, and 31G mutant gene type may be an independent risk factor for predicting EOC onset risk in Han people in north of China.