DNA修复基因单核苷酸多态性与乳腺癌发病风险的相关性
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国家自然科学基金(81472027)


Association of polymorphisms of DNA repair gene with the risk of breast cancer
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    摘要:

    目的: 探讨南京地区DNA修复基因的5个单核苷酸多态性位点(rs1800975-rs11615-rs2228000-rs2228001-rs238406) 与乳腺癌的发病风险-病理特征及激素受体水平的相关性-方法:共纳入乳腺癌病例和健康对照各350例-用MassARRAY时间飞行质谱技术分析5个单核苷酸位点的多态性;免疫组化方法检测雌激素受体(estrogen receptor,ER)-孕激素受体(progesterone receptor,PR)及人类表皮生长因子受体2(human epidermal growth factor receptor2,HER-2)表达水平-Logistics回归模型分析不同基因型与乳腺癌发生-病理特点和相关激素受体(ER-PR-HER-2)水平的关系-结果: rs11615TC/TT和rs2228000TT基因型与乳腺癌发病明显相关,且亚组分析提示rs1800975AA和GA基因型分别与绝经期乳腺癌-ER阴性乳腺癌发病相关-此外,rs2228000T等位基因与PR-乳腺癌HER-2阳性亚型相关,且rs11615与乳腺癌ER-PR阳性均相关-rs2228001与T3期乳腺癌-PR-HER-2阴性均相关-结论: rs2228000TT和rs11615TC/TT可增加乳腺癌患病风险-对于不同基因位点,肿瘤病理特点及ER-PR-HER-2的表达水平与乳腺癌的发生或预防有关-

    Abstract:

    Objective:To investigate the association of five single nucleotide polymorphisms (SNPs)(rs1800975,rs11615,rs2228000,rs2228001,rs238406) in DNA repair genes with the risk of breast cancer and it’s pathologic characteristics and related hormone receptor levels in Nanjing region. Methods: Genotypes of 5 SNPs in 350 breast cancer female patients and 350 healthy controls were determined by the Sequenom MassArray. Immunohistochemical experiment was used to measure the expression level of estrogen receptor (ER),progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2). Logistic regression was applied to analysis the association of different genotypes with the breast cancer risk and it’s pathologic characteristics and related hormone receptor (ER,PR,HER-2) levels. Results: Both rs11615 TC/TT and rs2228000 TT genotype present an increased risk for breast cancer. In contrast,subgroup analysis indicated that rs1800975 AA and GA genotype exert a decreased breast cancer risk in the subgroup of postmenopausal and ER negative,respectively. Besides,rs2228000 T allele showed significant association with PR,HER-2 positive breast cancer patients. Additionally,rs11615 had an increased breast cancer risk in the subgroup of ER and PR positive,however,rs2228001 showed a decreased breast cancer risk in patients with T3 stage,PR,or HER-2 negative state. Conclusion:Rs2228000 genotype is associated with the increased breast cancer risk. Morever,for specific polymorphism,the tumor characters,levels of ER,PR,HER-2 were related to the occurrence or prevention of breast cancer.

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刘 贤,林 康,孙慧玲,许 桃,王书奎. DNA修复基因单核苷酸多态性与乳腺癌发病风险的相关性[J].南京医科大学学报(自然科学版),2016,(5):513-519

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  • 收稿日期:2016-01-03
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  • 在线发布日期: 2016-05-23
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