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

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

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(P<0.05)。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。

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 521 bp and 481 bp 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 significantly increased risk of CC（ adjusted OR = 1.51,P = 0.009 and OR = 1.86,P = 0.01,respectively）.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 stratification analysis on smoking status and drinking status,while no significant difference was found on risk factors of age.