目的:探讨中国西北地区汉族妇女脱嘌呤/脱嘧啶核酸内切酶1(APE1)单核苷酸多态性与卵巢癌易感性的关系.方法:采用病例对照研究,应用PCR及直接测序法检测116例卵巢癌患者及141例健康妇女APE1位点rs1760944和rs1130409的单核苷酸多态性(SNP).结果:rs1130409位点的TG和GG基因型相对于TT基因型,降低了患卵巢癌的风险.进一步分析发现等位基因G相对于等位基因T,显著降低患卵巢癌的风险.按年龄、初潮年龄、孕次、产次、是否绝经进行分层分析,发现rs 1130409的TG/GG基因型比TT基因型在年龄≥50岁、初潮年龄≥15岁、孕次≥3次、产次≥3次和已绝经的女性中的保护作用更加显著.但是,未发现rs1760944的多态性与卵巢癌易感性相关.单倍体分析中,APE1T/G和G/G单倍体相对于T/T单倍体降低患卵巢癌风险.结论:APE1基因单核苷酸多态性与中国西北地区汉族妇女卵巢癌易感性密切相关.
Objective:To explore the genetic association between the single nucleotide polymorphisms (SNPs) of APE1 gene and the susceptibility of ovarian carcinoma among women in northwest China.Methods:A population based case control study was conducted in 116 ovarian cancer patients and 141 healthy controls.The SNP of APE1 rs1130409 and rs1760944 were detected by PCR and sequencing test.Results:For the polymorphism of rs1130409,individuals with TG and GG genotype significantly decreased the risk of develop ovarian cancer compared with those harboring TT genotype,whereas the rs1760944 polymorphism had no effcts on ovarian carcinoma.In the stratified analysis,the effict was remain in age ≥ 50 years,age of menarche ≥ 15 years,gravida ≥ 3 times,para ≥ 3 times and post-menopausal women.APE1 T-G and G-G haplotype markedly decreased the risk,compared to T-T haplotype.Conclultion:APE1 rs1130409 polymorphism affects susceptibility of ovarian carcinoma in northwest China.