Laboratorios de Genética Molecular, Centro de Investigación Biomédica de Occidente, Guadalajara, México.
Gynecol Obstet Invest. 2012;73(2):118-23. doi: 10.1159/000330702. Epub 2012 Feb 17.
BACKGROUND/AIM: The TP53 tumor suppressor gene encodes the nuclear phosphoprotein p53, which plays an important role in cell cycle regulation, apoptosis, DNA repair and angiogenesis. The TP53 gene contains common genetic polymorphisms that influence gene activity. Clinical implications of TP53 polymorphisms have been reported for several diseases, including a variety of solid tumors and endometriosis. We evaluated the association of a TP53 duplication polymorphism with endometriosis.
We evaluated the role of the TP53 16-bp duplication polymorphism by comparing the genotypes of 204 healthy women (controls with surgically excluded endometriosis) to the genotypes of 151 women with endometriosis in the Mexican population.
The observed genotype frequencies for controls and endometriosis patients were 0.5 and 5% for 16 bp+/+, 11 and 21% for 16 bp+/-, and 88.5 and 77% for 16 bp-/-, respectively. The odds ratio (OR) was 9.8 (95% CI 1.2-446.8; p = 0.01). The association was more evident when we compared the distribution of genotype 16 bp+/+ to genotype 16 bp+/-. In patients with moderate/severe endometriosis, the OR was 4.0 (95% CI 1.6-9.8; p = 0.003).
Our data suggest that the 16-bp duplication polymorphism in TP53 contributes significantly to endometriosis susceptibility in the Mexican population.
背景/目的：TP53 肿瘤抑制基因编码核磷蛋白 p53，它在细胞周期调控、细胞凋亡、DNA 修复和血管生成中发挥重要作用。TP53 基因包含影响基因活性的常见遗传多态性。TP53 多态性的临床意义已在多种疾病中得到报道，包括各种实体瘤和子宫内膜异位症。我们评估了 TP53 基因重复多态性与子宫内膜异位症的相关性。
我们通过比较 204 名健康女性（手术排除子宫内膜异位症的对照组）和 151 名患有子宫内膜异位症的墨西哥女性的 TP53 16 个碱基对重复多态性的基因型，评估了 TP53 基因重复多态性的作用。
对照组和子宫内膜异位症患者的观察基因型频率分别为 16 bp+/+为 0.5%和 5%，16 bp+/-为 11%和 21%，16 bp-/ -为 88.5%和 77%。比值比（OR）为 9.8（95%置信区间 1.2-446.8；p = 0.01）。当我们比较基因型 16 bp+/+与基因型 16 bp+/-的分布时，关联更为明显。在中重度子宫内膜异位症患者中，OR 为 4.0（95%置信区间 1.6-9.8；p = 0.003）。
我们的数据表明，TP53 中的 16 个碱基对重复多态性显著增加了墨西哥人群患子宫内膜异位症的易感性。
Zotero 插件