p53抑癌基因多态性与子宫肌瘤易感性的相关性研究

作     者：Denschlag D. Bettendorf H. Watermann D. 李跃萍 

作者机构：Department of Obstetrics and Gynecology University of Freiburg School of Medicine Hugstetter Strasse 55 D-79106 Freiburg Germany Dr. 

出 版 物：《世界核心医学期刊文摘（妇产科学分册）》 (Core Journal in Obstetrics/Gynecology)

年 卷 期：2005年第1卷第11期

页      面：33-34页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：p53 抑癌基因 多态性 血管生成素 等位基因频率 手术确诊 密码子 脯氨酸 病例对照研究 精氨酸 

摘      要：Objective: To evaluate the association between the presence of uterine leiomyoma and two single nuclear polymorphisms of the p53 tumor suppressor and the angiopoietin-2 (ANGPT2) genes. Design: Prospective case-control study. Setting: Academic research institution. Patient(s): One hundred thirty-two women with clinically and surgically diagnosed uterine leiomyomas and 280 controls. Intervention(s): Peripheral venous puncture. Main Outcome Measure(s): Genotyping was performed by polymerase chain reaction-based amplification of the Arg and Pro variants at codon 72 of the p53 gene and by restriction fragment length polymorphismanalysis of the G/G and G/A alleles in exon 4 of the ANGPT2 gene. Result(s): Comparing women with uterine leiomyomas and controls, no statistically significant difference with respect to allele frequency and genotype distribution were ascertained for the ANGPT2 polymorphism (P=.2 and P=.5, respectively). However, for the p53 tumor suppressor gene polymorphism, statistically significant differences in terms of a higher Pro allele frequency and a higher prevalence of the Pro/Pro genotype among women with uterine leiomyoma (32.0% vs. 16.0% , respectively, and 21.3% vs. 4.7% , respectively) were ascertained (P=.001, OR 1.74; 95% CI 1.24-2.45, P=.001; OR 3.84, 95% CI 1.81-8.14; respectively). Conclusion(s): Carriage of the p53 polymorphism at codon 72 predicts the susceptibility to leiomyoma in a Caucasian population and may contribute to the pathogenesis of uterine leiomyoma.