MDM2基因启动子区40-bp插入/缺失多态性与宫颈癌易感性相关研究

目的:研究MDM2基因启动子区的40-bp插入/缺失多态性与散发宫颈癌(CC)易感性的相关性。方法:应用PCR和琼脂糖凝胶电泳结合EB显色方法显示521bp和481bp两条条带,以此检测368例CC患者(病例组)和421例健康妇女(对照组)插入/缺失基因型频率,统计分析其与CC的关联性。结果:两组妇女年龄无显著差异,吸烟、饮酒情况存在显著性差异(P0.05)。基因分型结果显示:患者中插入/插入型(Ins/Ins),插入/缺失型(Ins/Del)和缺失/缺失型(Del/Del)基因型频率分别为0.375,0.492和0.133,健康对照组分别为0.484,0.423和0.093。基因型为Ins/Del和Del/Del的个体CRC易感性明显增高(OR=1.51,95%CI:1.11~2.03,P=0.009)(OR=1.86,95%CI:1.16~2.98,P=0.01)。结论:本组人群中MDM2基因启动子区40-bp插入/缺失多态性与宫颈癌发生存在关联,这种关联在年龄因素中并不明显,而在吸烟、饮酒情况差异显著。

An insertion/deletion polymorphism within the constitutive promoter of MDM2 associated with susceptibility for cervical cancer in the Chinese population

Objective:To investigate the association between CC susceptibility with a 40-bp insertion/deletion polymorphism ( rs3730485 ) in the distal promoter of MDM2 . Method:The genotype of MDM2 was detected by RCR,then the PCR products were detected by 2. 5%agarose gel electrophoresis,EB colorimetry,product 521bp and 481bp two bands,according to the final product band location and quantity to determine the genotype of sample,the final count by two different subjects. Result:No significant differences were found between CC patients and control subjects in terms of age,there was prominent difference of the association smoking,and drinking status(P<0. 05),suggesting that the frequency matching was adequate. Compared with the ins/ins genotype,subjects with the heterozygous ins/del or homozygous del/del had a signif-icantly increased risk of CC (adjusted OR=1. 51,P=0. 009 and OR=1. 86,P=0. 01,respec-tively) . Conclusion:Our study provided initial evidence that the indel may play a functional role in development of CC in the Chinese population. Positive association was found in stratifica-tion analysis on smoking status and drinking status,while no significant difference was found on risk factors of age.