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参与DNA修复的基因的遗传变异性影响骨肉瘤的治疗结果。

Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma.

作者信息

Wang M J, Zhu Y, Guo X J, Tian Z Z

机构信息

Department of Orthopaedics, Xinxiang Central Hospital, Xinxiang, China.

出版信息

Genet Mol Res. 2015 Sep 28;14(3):11652-7. doi: 10.4238/2015.September.28.17.

DOI:10.4238/2015.September.28.17
PMID:26436406
Abstract

We conducted a perspective study to investigate the role of ERCC1 (rs11615), ERCC2 (rs13181 and rs1799793), ERCC4 (rs1800067), and ERCC5 (rs17655) in NER pathway in the prognosis of osteosarcoma patients. In total, 146 osteosarcoma patients were recruited between 2008 and 2013. ERCC1 rs11615, ERCC2 rs13181 and rs1799793, ERCC4 rs1800067, and ERCC5 rs17655 gene polymorphisms were assessed by polymerase chain reaction-restriction fragment length polymorphism assay. By multivariate Cox proportional hazards models, we found that carriers of ERCC1 rs11615 TT genotype showed significantly favorable survival compared to wide-type CC genotype, and the adjusted OR (95%CI) was 0.24 (0.08-0.96). Moreover, we found that subjects with ERCC2 rs1799793 AA genotype were associated with decreased hazards of death in multivariate analysis (HR = 0.22, 95%CI = 0.12-0.93). In conclusion, our results suggest that ERCC1 rs11615 and ERCC2 rs1799793 may be useful genetic prognostic markers for osteosarcoma in a Chinese population.

摘要

我们进行了一项前瞻性研究,以探讨ERCC1(rs11615)、ERCC2(rs13181和rs1799793)、ERCC4(rs1800067)和ERCC5(rs17655)在核苷酸切除修复(NER)途径中对骨肉瘤患者预后的作用。2008年至2013年期间共招募了146例骨肉瘤患者。通过聚合酶链反应-限制性片段长度多态性分析评估ERCC1 rs11615、ERCC2 rs13181和rs1799793、ERCC4 rs1800067以及ERCC5 rs17655基因多态性。通过多变量Cox比例风险模型,我们发现ERCC1 rs11615 TT基因型携带者与野生型CC基因型相比,生存情况显著更好,调整后的OR(95%CI)为0.24(0.08 - 0.96)。此外,我们发现在多变量分析中,ERCC2 rs1799793 AA基因型的受试者死亡风险降低(HR = 0.22,95%CI = 0.12 - 0.93)。总之,我们的结果表明,ERCC1 rs11615和ERCC2 rs1799793可能是中国人群骨肉瘤有用的基因预后标志物。

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