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江浙沪地区人群中修复基因XRCC1多态性与鼻咽癌易感性的关系
朱秋蓓,范静平,吴建,郎军添,刘环海,赵舒薇*
0
(第二军医大学长征医院耳鼻咽喉科, 上海 200003
*通信作者)
摘要:
目的 探讨我国江浙沪地区人群中DNA损伤修复基因XRCC1多态性与鼻咽癌易感性的关系。方法 选取87例江浙沪地区汉族鼻咽癌患者,并随机选取同地区同种族的94例健康者作为对照,两组年龄、性别差异无统计学意义。采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)方法分析研究对象的XRCC1基因Arg194Trp及Arg399Gln两个位点的基因多态性,并比较不同基因型与鼻咽癌发病之间的关系。结果 XRCC1 Arg194Trp及Arg399Gln各基因型在鼻咽癌组和对照组间的分布频率基本相同。与携带Arg/Arg基因型者相比携带194位点Trp/Trp基因型者鼻咽癌的发生风险有所降低,但差异无统计学意义(OR=0.41,95% CI:0.08~1.65,P=0.21)。194位点其他基因型以及399位点各基因型对鼻咽癌的发病无明显影响。结论 XRCC1基因194和399位点的单核苷酸多态性可能与鼻咽癌的易感性无关,但194位点的Trp等位基因可能会降低鼻咽癌发病风险。
关键词:  鼻咽肿瘤  修复基因  XRCC1  单核苷酸多态性  疾病易感性
DOI:10.3724/SP.J.1008.2014.00452
投稿时间:2014-02-20修订日期:2014-03-13
基金项目:国家自然科学基金青年科学基金(81300837).
Polymorphism of XRCC1 gene and its relation with genetic susceptibility of nasopharyngeal carcinoma in Chinese living in Jiangsu, Zhejiang Province and Shanghai
ZHU Qiu-bei,FAN Jing-ping,WU Jian,LANG Jun-tian,LIU Huan-hai,ZHAO Shu-wei
(Department of Otolaryngology, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China
*Corresponding author.)
Abstract:
Objective To study the polymorphism of XRCC1 gene and its relation with genetic susceptibility of the nasopharyngeal carcinoma (NPC) in Chinese living in Jiangsu, Zhejiang Province and Shanghai. Methods A case-control study was performed with 87 NPC patients and 94 healthy controls of Han nationality in Chinese living in Jiangsu, Zhejiang Province and Shanghai. The two groups were matched by sex and age. PCR-RFLP technique was used to explore the relation of different XRCC1 polymorphisms with the susceptibility of NPC. Results The frequencies of the genotypes of XRCC1 Arg194Trp and Arg399Gln were similar between NPC and control groups. The risk of NPC individuals with the Trp194Trp genotype was reduced compared with that in those with Arg194Arg genotype, but with no significant differences (OR=0.41, 95% CI:0.08-1.65, P=0.21). No association was observed between the genetic susceptibility of NPC and other Arg194Trp variants or all Arg399Gln variants. Conclusion Our findings suggest that the polymorphism of XRCC1 has no association with the risk of nasopharyngeal carcinoma in Chinese living in Jiangsu, Zhejiang Province and Shanghai, but the Trp194Trp variant genotype may be associated with a reduced risk of NPC.
Key words:  nasopharyngeal neoplasms  repair gene  XRCC1  single nucleotide polymorphism  disease susceptibility