ATM基因多态性和乳腺癌发病风险的相关性

Correlation between ATM genetic polymorphism and breast cancer risk

目的通过对524例乳腺癌实验组和518例对照组的4个单核苷酸多态性位点进行基因型分型,探讨ATM基因多态性与乳腺癌发病风险的相关性。方法基于病例-对照组研究,通过对单个基因的分析、连锁分析和单倍型分析,用风险值(OR)和95%置信区间(CI)表示患病风险。结果 ATM基因中rs1890637、rs3092856及rs1801516的突变型等位基因频率显著高于对照组(P<0.005);校正后,在加性模型下rs189037和rs1801516与乳腺癌发病呈显著相关(OR:分别为1.37和1.52,95%CI:1.10~1.71、1.14~2.04,P=0.005、0.005);在单倍型分析中,ATM基因的单倍型A-C-G-G (rs189037-rs3092856-rs1801516-rs373759)和A-C-A-A分别与乳腺癌患病风险增加1.98倍和6.04倍显著相关(95%CI:1.36~2.90、1.65~22.08)。结论研究结果表明ATM基因是汉族乳腺癌易感的候选基因。

Objective We tested 4 SNPs in ATM genes among 524 breast cancer cases and 518 cancer-free controls to value the association between their polymorphism and the risk of breast cancer. Methods Based on a case-control association study,analyses of single variant,linkage and haplotype were performed. Risk was expressed as odds ratio (OR) and 95% confidence interval (CI). Results The mutant allele frequencies of rs1890637,rs3092856 and rs1801516 in ATM gene were significantly higher in cases than in controls (P<0. 005).After adjustment,rs189037 and rs1801516 were significantly associated with breast cancer under the additive model (OR: 1. 37 and 1. 52,95% CI: 1. 10 ~ 1. 71 and 1. 14 ~ 2. 04,P: 0. 005 and 0. 005,respectively). In haplotype analysis,haplotypes A-C-G-G (in order of rs189037,rs3092856,rs1801516 and rs373759) and A-C-A-A in ATM gene were significantly associated with 1. 98-fold and 6. 04-fold increased risk of breast cancer (95% CI: 1. 36 ~ 2. 90 and 1. 65 ~ 22. 08,respectively). Conclusion Our findings collectively indicated that ATM gene was a candidate gene in susceptibility to breast cancer in Han Chinese.