mdr1C3435T基因多态性与卵巢癌遗传易感性关系研究  

Association of single nucleotide polymorphism in mdr1C3435T with susceptibility to ovarian cancer

作　　者：马丽芳[1] 周琦[1] 徐建业[1] 李少林[2] 

机构地区：[1]重庆市肿瘤研究所妇瘤科,重庆400030 [2]重庆医科大学基础医学院放射医学教研室,重庆400016

出　　处：《重庆医科大学学报》2009年第12期1636-1639,共4页Journal of Chongqing Medical University

基　　金：重庆市卫生局2007年度医学科研项目(编号:07-2-191)

摘　　要：目的:探讨mdr1基因多态性与卵巢癌遗传易感性的关系。方法:采用病例对照,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术分析135例经病理确诊的卵巢癌病人(病例组)和146例同一地区的健康汉族女性(对照组)的mdr1C3435T基因型进行对照研究。结果:卵巢癌病例组C/C型(30.37%)明显低于对照组(47.95%),而病例组T/C型(44.44%)和T/T型(25.19%)均明显高于对照组T/C(38.35%)和T/T(13.7%),病例组和对照组各基因表型之间差异有显著统计学意义(χ2=10.930,P=0.004)。卵巢癌mdr1C3435T基因纯合缺失率(25.19%)高于对照组(13.7%),差异有统计学意义(χ2=5.961,P=0.015),与对照组相比,T/T型患卵巢癌的危险度提高了2.121倍。mdr1C3435T的基因纯合缺失型和非纯合缺失型在病例组与对照组间年龄比较差异均有明显统计学意义(P<0.05),其中在50岁以上年龄段,病例组与对照组mdr1C3435T的基因纯合缺失率差异有统计学意义(χ2=4.984,P=0.026),病例组(20.41%)高于对照组(5.1%),T/T型患卵巢癌的危险度增加2.533倍。结论:mdr1C3435T基因突变可增加卵巢癌发病风险,mdr1C3435T基因多态性与卵巢癌遗传易感性密切相关。50岁以上女性,T/T型增加卵巢癌的发病风险。Objective：To investigate the association of single nucleotide polymorphism in mdrlC3435T with susceptibility to ovarian cancer. Methods： mdrl C3435T gene was determined by PCR-RFLP method in 135 ovarian cancer patients（cases group） and 146 healthy women （ control group ）. Results ： The frequency of C/C genotype in cases group （30.37%） was significantly lower than that in controls （47.95%）, and the frequencies of T/C （44.44%）and T/T （25.19%） respectively in cases group were significantly higher than those in controls （T/C38.35%, T/T13.7%）. The frequency of mdr1C3435T null genotype in cases group （25.19%） was higher than that in control group （13.7%）.Compared with controls, the susceptibility of ovarian cancer with the T/T genotype was increased by 2.121-fold.There was significant difference in frequency of mdrlC3435T null and nonnull genotype between cases and controls of average age（P 〈0.05 ）. In more than 50 year age group, the frequency of mdr1C3435T null genotype in cases （ 20.41% ）was higher than that in controls （ 5.1% ）. Compared with controls, the susceptibility to ovarian cancer with the T/T genotype was increased by 2.533-fold. Conclusion：mdrlC3435T gene mutation genotype could increase risk of ovarian cancer, mdr1C3435T polymorphism is an important risk factor for susceptibility to ovarian cancer. Age increases the risk of ovarian cancer.In women older than 50 years, T/T genotype increases the risk of ovarian cancer.

关 键 词：卵巢癌 mdr1C3435T基因多态性 疾病遗传易感性 

分 类 号：R730.54[医药卫生—肿瘤] R737.31[医药卫生—临床医学]