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ERCC2和ERCC3基因多态性在骨肉瘤发生发展中的作用。

Role of ERCC2 and ERCC3 gene polymorphisms in the development of osteosarcoma.

作者信息

Ma X, Zhang Y, Sun T S, Yao J H

机构信息

Department of Orthopedics, Chinese PLA Medical Academy, Beijing, China.

出版信息

Genet Mol Res. 2016 Mar 31;15(1):gmr7302. doi: 10.4238/gmr.15017302.

DOI:10.4238/gmr.15017302
PMID:27051024
Abstract

We conducted a case-control study to investigate the role of common SNPs in ERCC2 (rs13181 and rs1799793) and ERCC3 (rs4150441 and rs4150506) in the development of osteosarcoma. A 1:2 matched case-control study was conducted. Between January 2012 and December 2013, 141 patients with pathologically diagnosed osteosarcoma and 282 controls were recruited in our study. Genotyping of ERCC2 rs13181 and rs1799793 as well as ERCC3 rs4150441 and rs4150506 were performed using polymerase chain reaction coupled with restriction fragment length polymorphism. The genotype distributions of ERCC2 rs13181 and rs1799793 as well as ERCC3 rs4150441 and rs4150506 showed no significant difference between patients with osteosarcoma and controls, as analyzed by c2 tests. Multivariate logistic regression analysis did not reveal significant associations between ERCC2 rs13181/rs1799793 or ERCC3 rs4150441/ rs4150506 gene polymorphisms and the development of osteosarcoma in codominant, dominant, and recessive models. In conclusion, we did not find any association between ERCC2 or ERCC3 gene polymorphisms and the development of osteosarcoma. Future studies with larger sample sizes may contribute in elucidating the impact of ERCC2 and ERCC3 gene polymorphisms on osteosarcoma risks.

摘要

我们进行了一项病例对照研究,以调查ERCC2(rs13181和rs1799793)和ERCC3(rs4150441和rs4150506)常见单核苷酸多态性(SNPs)在骨肉瘤发生中的作用。进行了一项1:2匹配的病例对照研究。在2012年1月至2013年12月期间,我们的研究招募了141例经病理诊断的骨肉瘤患者和282例对照。采用聚合酶链反应结合限制性片段长度多态性方法对ERCC2 rs13181和rs1799793以及ERCC3 rs4150441和rs4150506进行基因分型。通过卡方检验分析,ERCC2 rs13181和rs1799793以及ERCC3 rs4150441和rs4150506的基因型分布在骨肉瘤患者和对照之间未显示出显著差异。多因素逻辑回归分析未揭示ERCC2 rs13181/rs1799793或ERCC3 rs4150441/rs4150506基因多态性与共显性、显性和隐性模型中骨肉瘤发生之间的显著关联。总之,我们未发现ERCC2或ERCC3基因多态性与骨肉瘤发生之间存在任何关联。未来更大样本量的研究可能有助于阐明ERCC2和ERCC3基因多态性对骨肉瘤风险的影响。

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引用本文的文献

1
Association of ERCC gene polymorphism with osteosarcoma risk.ERCC基因多态性与骨肉瘤风险的关联。
Afr Health Sci. 2020 Dec;20(4):1840-1848. doi: 10.4314/ahs.v20i4.39.
2
Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis.骨肉瘤和软组织肉瘤的遗传易感性:领域概述与荟萃分析。
Oncotarget. 2018 Apr 6;9(26):18607-18626. doi: 10.18632/oncotarget.24719.
3
Genetic Association between ERCC2, NBN, RAD51 Gene Variants and Osteosarcoma Risk: a Systematic Review and Meta-Analysis.ERCC2、NBN、RAD51基因变异与骨肉瘤风险之间的遗传关联:一项系统评价和荟萃分析
Asian Pac J Cancer Prev. 2017 May 1;18(5):1315-1321. doi: 10.22034/APJCP.2017.18.5.1315.
4
Haplotype analysis on relationship of ERCC2 and ERCC3 gene polymorphisms with osteosarcoma risk in Chinese young population.中国年轻人群中ERCC2和ERCC3基因多态性与骨肉瘤风险关系的单倍型分析
Mamm Genome. 2017 Jun;28(5-6):227-233. doi: 10.1007/s00335-017-9693-8. Epub 2017 May 4.