雌激素代谢基因CYP17和COMT单核苷酸多态与子宫内膜腺癌风险的关系  

Relation among single nucleotide polymorphism in estrogen metablolizing genes CYP17,COMT and endometrial adenocarcinoma risk

作　　者：刘洁[1] 杨兴升[1] 曲迅[1] 李华[1] 钟艳慧[1] 

机构地区：[1]山东大学齐鲁医院妇产科,山东济南250012

出　　处：《山东大学学报（医学版）》2007年第1期18-21,共4页Journal of Shandong University:Health Sciences

基　　金：国家自然科学基金资助课题(30371478)

摘　　要：目的:研究参与雌激素合成的细胞色素P450c17(CYP17)和雌激素代谢解毒的儿茶酚-O-甲基转移酶(catechol-O-methyltransferase,COMT)基因多态与子宫内膜腺癌发生的关系。方法:以病例-对照研究,采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)法检测80例子宫内膜腺癌患者和84例对照者的CYP17基因转录起始点上游34 bp处的T/C多态及COMT基因第四外显子第158位密码子Val/Met多态。结果:A1/A1、A1/A2、A2/A2三种多态基因型在对照组和子宫内膜腺癌组中的分布差异有统计学意义(P<0.05),其中A1/A1和A1/A2基因型在子宫内膜腺癌组中的分布频率明显高于对照组。子宫内膜腺癌组A1等位基因的分布频率较对照组高,差异有统计学意义(P<0.05)。与A2/A2基因型相比,A1/A1基因型个体和A1/A2基因型个体发生子宫内膜腺癌的相对危险度(OR)分别是3.152和2.693,其差异均有统计学意义(P<0.05)。COMT基因型频率在对照组和子宫内膜腺癌组中的分布差异无统计学意义(P>0.05)。结论:CYP17基因MspAI1位点的A1/A1和A1/A2基因型及A1等位基因与子宫内膜腺癌的发生有关,可作为子宫内膜腺癌易感人群筛查的重要指标,而COMT基因多态性与子宫内膜腺癌风险无相关性。Objective： To study the relationship among estrogen metablizing genes CYP17, COMT genetic polymorphism and endometrial adenocarcinoma. Methods： CYP17 and COMT polymorphisms were detected by the methods of PCR-RFLP in a case-control study, including 80 cases of endometrial adenecarcinoma and 84 cases as controls. Results：The frequencies of the MspAI1 polymorphisms in the cancer group and the control group were significantly different （P 〈 0.05）, and the distribution values of A1/A1 and A1/A2 genotypes in the cancer group were significantly higher than those in the control group while the frequency of A1 allele in the cancer group was also significantly higher than that in the control group. The odds ratio of A/A1 and A1/A2 genotypes was 3. 152 and 2. 693, respectively in endometrial adenocarcinoma, which both had a significant difference from that of A2/A2 genotype （ P 〈 0.05）. There was not a significant difference in the distribution of COMT genotypes between endometrial adenocarcinoma patients and control subjects （P 〉 0.05）. Condusions： The results suggest that A1/A1, A1/A2 genotypes and A1 allele are related to the susceptibility of endometrial adenocarcinoma and they might be one of the useful markers for predicting endometrial adenocarcinoma. The allele encoding for low activity COMT may not be a genetic risk factor for endometrial adenocarcinoma.

关 键 词：子宫内膜肿瘤 细胞色素P450c17 儿茶酚O-甲基转移酶 多态性 

分 类 号：R737.33[医药卫生—肿瘤]