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ERCC基因多态性与骨肉瘤的生存相关性

张晋煜 彭灼辉

张晋煜, 彭灼辉. ERCC基因多态性与骨肉瘤的生存相关性[J]. 昆明医科大学学报, 2017, 38(09): 59-65.
引用本文: 张晋煜, 彭灼辉. ERCC基因多态性与骨肉瘤的生存相关性[J]. 昆明医科大学学报, 2017, 38(09): 59-65.
Zhang Jin Yu , Peng Zhuo Hui . Relationship between Single Nucleotide Polymorphisms of ERCC Gene and Survival of Osteosarcoma[J]. Journal of Kunming Medical University, 2017, 38(09): 59-65.
Citation: Zhang Jin Yu , Peng Zhuo Hui . Relationship between Single Nucleotide Polymorphisms of ERCC Gene and Survival of Osteosarcoma[J]. Journal of Kunming Medical University, 2017, 38(09): 59-65.

ERCC基因多态性与骨肉瘤的生存相关性

基金项目: 

基金: 云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (20147FZ038);

Relationship between Single Nucleotide Polymorphisms of ERCC Gene and Survival of Osteosarcoma

Funds: 

基金: 云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目 (20147FZ038);

  • 摘要: 目的探讨骨肉瘤患者及正常人群 (excision repair cross-complementing, ERCC) 基因ERCC1Asn118Asn (rs11615) 和ERCC1 Gln504Lys (rs3212986) , ERCC2Asp312Asn (rs1799793) 和ERCC2Lys751Gln (rs13181) 单核苷酸多态性与骨肉瘤患者对顺铂的反应和生存状况的关系.方法 2011年1月至2015年12月住院收治的骨肉瘤患者161例及正常人群163例, 静脉血2 m L, 用实时逆转录聚合酶链式反应方法 (real time quantitative polymerase chain reaction, RT-PCR) 比较骨肉瘤患者及正常人群ERCC1Asn118Asn (rs11615) 和ERCC1 Gln504Lys (rs3212986) , ERCC2Asp312Asn (rs1799793) 和ERCC2 Lys751Gln (rs13181) 基因型及等位基因分布频率.对骨肉瘤患者按不同的临床因素 (年龄、性别、病理类型、肿瘤部位、Enneking外科分期、肿瘤转移及治疗方法) 进行分组, 比较各组基因型频率及等位基因频率, 分析基因多态性与各临床因素的关系.结果 (1) ERCC1Asn118Asn (rs11615) 和ERCC1 Gln504Lys (rs3212986) , ERCC2Asp312Asn (rs1799793) 和ERCC2Lys751Gln (rs13181) 基因型有CC、CT、TT型, 骨肉瘤患者及正常人群基因型频率 (CC、CT、TT) 及等位基因频率 (C、T) 比较差异均无统计学意义 (P=0.590, P=0.544) ; (2) 对于ERCC1 Asn118Asn, 与野生型C/C相比, 突变型T/T与较高的无病生存率显著相关, 校正OR值 (95%CI) 0.37 (0.150.85) .ERCC2 751 A/A基因型表现为骨肉瘤患者生存率增加 (HR=0.45, 95%CI 0.110.88) .没有证明ERCC1 Gln504Lys与ERCC2Asp312Asn的多态性和骨肉瘤预后相关.结论 ERCC基因ERCC1 Asn118Asn118T/T和ERCC2 Lys751Gln A/A多态性与骨肉瘤无病生存率 (SFS) 相关, 可以用作顺铂治疗的骨肉瘤患者临床预后的标志物.而ERCC1 Gln504Lys (rs3212986) 、ERCC2 Asp312Asn与骨肉瘤无病生存率 (SFS) 无相关性.
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  • 收稿日期:  2017-04-21

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