天津医药

天津医药 ›› 2022, Vol. 50 ›› Issue (3): 280-285.doi: 10.11958/20212198

• 临床研究 • 上一篇    下一篇

ABCC2基因单核苷酸多态性对食管鳞癌术后患者无病生存期的影响

曹放，孙志伟，史幼梧，孙婧，杜丰，肖艳洁，余靖，贾军，杨颖   

  1. 1北京大学肿瘤医院暨北京市肿瘤防治研究所，恶性肿瘤发病机制及转化研究教育部重点实验室，病理科（邮编100142），2肿瘤内科VIP2病区
  • 收稿日期:2021-09-24 修回日期:2021-12-14 出版日期:2022-03-15 发布日期:2022-03-15
  • 基金资助:
    国家自然科学基金青年基金项目（81602924）

The effect of single nucleotide polymorphism of ABCC2 gene on disease-free survival in postoperative patients with esophageal squamous cell carcinoma

CAO Fang, SUN Zhiwei, SHI Youwu, SUN Jing, DU Feng, XIAO Yanjie, YU Jing, JIA Jun, YANG Ying   

  1. 1 Department of Pathology, 2 The VIP-II Gastrointestinal Cancer Division of Medical Department, Peking University Cancer Hospital & Institute, Key Laboratory of Carcinogenesis & Translational Research (Ministry of Education), Beijing 100142, China
  • Received:2021-09-24 Revised:2021-12-14 Published:2022-03-15 Online:2022-03-15

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摘要： 目的　探索药代动力基因单核苷酸多态性（SNP）与食管鳞癌患者术后无病生存期的关系，用于评估手术患者预后。方法　以77例食管鳞癌术后患者为研究对象，选择ATP结合盒亚家族B成员1（ABCB1）rs1045642、rs2032582、rs3213619，ATP结合盒亚家族G成员2（ABCG2）rs2231137、rs2231142，ATP结合盒亚家族C成员1（ABCC1）rs246221和ATP结合盒亚家族C成员2（ABCC2）rs3740066这7个SNP行基因测序，采用Cox回归模型评估遗传变异和无病生存之间的关系，并采用半贝叶斯收缩方法对多次检验和小样本量进行校正。结果　在显性基因模型下，ABCC2 rs3740066的次要等位基因与无病生存期缩短有关［粗HR（95%CI）为4.623（1.111～19.241），P=0.035；校正HR（95%CI）为4.290（1.010~18.215），P=0.048］。结论　药物代谢动力学基因ABCC2 rs3740066单核苷酸多态性与食管鳞癌患者术后无病生存期有关。

关键词: 食管肿瘤, 癌, 鳞状细胞, 多态性, 单核苷酸, 无病生存, ATP结合盒转运子, 亚家族C, 成员2

Abstract: Objective　To explore the relationship between single nucleotide polymorphism (SNP) of pharmacokinetic genes and postoperative disease-free survival in patients with esophageal squamous cell carcinoma, and to evaluate the prognosis of patients undergoing surgery. Methods　Seventy-seven patients with esophageal squamous cell carcinoma were selected in the study. Seven SNPs-ATP binding cassette subfamily B member 1 (ABCB1) rs1045642, rs2032582, rs3213619, ATP binding cassette subfamily G member 2 (ABCG2) rs2231137, rs2231142, ATP binding cassette subfamily C member 1 (ABCC1) rs246221 and ATP binding cassette subfamily C member 2 (ABCC2) rs3740066 were sequenced, and the relationship between genetic variation and disease-free survival was evaluated by Cox regression model. Semi-Bayesian shrinkage method was applied to correct for multiple comparison and small sample size issues. Results　With the dominant genetic model, the minor allele of ABCC2 rs3740066 was significantly associated with shorter disease-free survival [crude hazard ratio (cHR) 95%CI= 4.623 (1.111-19.241), P=0.035, adjusted hazard ratio (aHR) 95% CI= 4.290 (1.010-18.215), P=0.048]. Conclusion　The SNP rs3740066 of pharmacokinetic gene ABCC2 is associated with postoperative disease-free survival in patients with esophageal squamous cell carcinoma.

Key words: esophageal neoplasms, carcinoma, squamous cell, polymorphism, single nucleotide, disease-free survival, ATP binding cassette transporter, sub-family C, member 2