Denschlag Dominik, Bettendorf Herta, Watermann Dirk, Keck Christoph, Tempfer Clemens, Pietrowski Detlef
Department of Obstetrics and Gynecology, University of Freiburg School of Medicine, Freiburg, Germany.
Fertil Steril. 2005 Jul;84(1):162-6. doi: 10.1016/j.fertnstert.2005.01.103.
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.
Prospective case control study.
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 polymorphism analysis 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.
评估子宫肌瘤的存在与p53肿瘤抑制基因及血管生成素-2（ANGPT2）基因的两个单核苷酸多态性之间的关联。
前瞻性病例对照研究。
学术研究机构。
132例经临床和手术诊断为子宫肌瘤的女性及280例对照。
外周静脉穿刺。
通过基于聚合酶链反应的方法扩增p53基因第72密码子的精氨酸和脯氨酸变体进行基因分型，并通过限制性片段长度多态性分析ANGPT2基因第4外显子中的G/G和G/A等位基因。
比较子宫肌瘤女性和对照，ANGPT2多态性在等位基因频率和基因型分布方面未确定有统计学显著差异（分别为P = 0.2和P = 0.5）。然而，对于p53肿瘤抑制基因多态性，在子宫肌瘤女性中确定了脯氨酸等位基因频率较高以及脯氨酸/脯氨酸基因型患病率较高方面存在统计学显著差异（分别为32.0%对16.0%，以及21.3%对4.7%）（P = 0.001，OR 1.74；95% CI 1.24 - 2.45，P = 0.001；OR 3.84，95% CI 1.81 - 8.14；分别）。
第72密码子的p53多态性携带者预示白种人群对子宫肌瘤的易感性，并可能有助于子宫肌瘤的发病机制。
