XRCC3基因多态性与西北地区妇女乳腺癌的关联性研究

目的：通过对中国西北地区妇女乳腺癌与健康人群XRCC3基因多态性位点的研究，找出基因多态性与乳腺癌发病的相关性。方法：采集西北地区的517例乳腺癌患者和1 008例健康人群外周血，提取DNA后采用高通量芯片检测方法，测定XRCC3基因rs861534、rs861537、rs3212092和rs861530共4个多态性位点的基因分型。结果：Logistic回归分析发现XRCC3 rs861534位点的AG/AA基因型，病例组与对照组比较差异有统计学意义（P < 0.01，OR=0.36；P=0.013，OR=0.08），同时，GG+AG基因型与对照组比较差异有统计学意义（P < 0.01），XRCC3 rs861530位点的Logistic回归分析显示AG+AA基因型与对照组比较差异有统计学意义（P=0.044）。相关临床病理学指标分析显示rs861537位点的GG/AG基因型在ER⁺与ER^-患者中的分布差异有统计学意义（P=0.048，OR=1.50）。rs3212092位点的CC+CT基因型在Her-2^-与Her-2⁺患者中的分布差异具有统计学意义（P=0.027，OR=2.06）。结论：在中国西北地区妇女人群中XRCC3基因rs861534和rs861530两个位点的多态性与乳腺癌的发病有相关性。在XRCC3 rs861537位点，GG/AG基因型ER⁺携带者可能具有较高的乳腺癌内分泌治疗风险；在rs3212092位点，携带CT和TT基因型的Her-2⁺表达患者具有明显的乳腺癌转移复发风险。

Relationships between XRCC3 polymorphisms and breast cancer in northern Chinese women

OBJECTIVE:To investigate correlations between gene polymorphisms and cancer,we studied polymorphisms in the XRCC3 double strand DNA repair gene in breast cancer. METHODS:Data on four gene loci (rs861534,rs861537,rs3212092 and rs861530) were combined with genotypes on breast cancer. High throughput chip detection assay was used for the polymorphism of XRCC3 in 517 cases of breast cancer and 1 008 disease-free controls which were collected in Gansu. RESULTS:With logistic regression analyses of the polymorphisms,rs861534 was found have significantly different distributions at the AG/AA genotype (P < 0.01,OR=0.36;P=0.013,OR=0.08) compared with the-GG-allele. The rs861530 AG+AA alleles-were significantly different from the controls (P=0.044). With respect to clinical indicators,the rs861537 GG/AG genotype was significant associated with positive ER protein (P=0.048,OR=1.50). In tumer tissues,the rs3212092 CT genotype was significantly associated with the Her-2⁺ protein (P=0.049),while the CC+CT genotype was significantly different (P=0.027,OR=2.06). CONCLUSION:Our results indicate that-XRCC3 rs861534 and rs861530-were significant associated with breast cancer risk. The GG/AG genotype with ER⁺ at XRCC3 rs861537 may impose a higher risk for breast cancer. Patients with the positive of ER protein and with the rs861537 locus may have increased risk from endocrine therapy. After adjusting for covariates,the rs3212092 homozygote TT-and heterozygote CT with Her-2⁺ expression were associated with the risk of recurrence and metastasis.