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细胞毒性T淋巴细胞抗原4 +49G/A多态性与骨肉瘤风险增加相关。

Cytotoxic T-lymphocyte antigen-4 +49G/A polymorphism is associated with increased risk of osteosarcoma.

作者信息

Wang Wen, Wang Jian, Song Haihan, Liu Jie, Song Bao, Cao Xuecheng

机构信息

Traumatic Orthopedic Department, General Hospital of Jinan Military Command, Jinan, PR China.

出版信息

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):503-6. doi: 10.1089/gtmb.2010.0264. Epub 2011 Mar 31.

DOI:10.1089/gtmb.2010.0264
PMID:21453059
Abstract

BACKGROUND

Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a potent immunoregulatory molecule that suppresses anti-tumor response by down-regulating T-cell activation. CTLA-4 gene +49G/A polymorphism (rs231775) has been reported to be associated with various cancers.

OBJECTIVE

The objective of this study is to investigate the association between CTLA-4 gene +49G/A polymorphism and the susceptibility to osteosarcoma in the Chinese population.

METHODS

The CTLA-4 variant +49G/A was detected by polymerase chain reaction-restriction fragment length polymorphism in 205 osteosarcoma cases and 216 age-matched healthy controls. Data were analyzed using the Chi-square test.

RESULTS

Frequencies of the CTLA-4 +49AA genotype and the +49A allele were significantly increased in patients with osteosarcoma compared to healthy controls (OR 2.27, p=0.010, and OR 1.41, p=0.015).

CONCLUSIONS

Our data suggest that the +49G/A polymorphism of CTLA-4 gene is associated with increased susceptibility to osteosarcoma.

摘要

背景

细胞毒性T淋巴细胞抗原4(CTLA-4)是一种强效免疫调节分子,可通过下调T细胞活化来抑制抗肿瘤反应。据报道,CTLA-4基因+49G/A多态性(rs231775)与多种癌症相关。

目的

本研究旨在探讨CTLA-4基因+49G/A多态性与中国人群骨肉瘤易感性之间的关联。

方法

采用聚合酶链反应-限制性片段长度多态性方法,对205例骨肉瘤患者和216例年龄匹配的健康对照者进行CTLA-4基因+49G/A变异检测。采用卡方检验进行数据分析。

结果

与健康对照相比,骨肉瘤患者中CTLA-4 +49AA基因型和+49A等位基因的频率显著升高(优势比2.27,p=0.010;优势比1.41,p=0.015)。

结论

我们的数据表明,CTLA-4基因的+49G/A多态性与骨肉瘤易感性增加有关。

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