Gallegos-Arreola M P, Figuera-Villanueva L E, Puebla-Pérez A M, Montoya-Fuentes H, Suarez-Rincon A E, Zúñiga-González G M
Molecular Medicine Department, Biomedical Research Center West, Instituto Mexicano del Seguro Social, Guadalajara, México.
Genet Mol Res. 2012 May 15;11(2):1401-8. doi: 10.4238/2012.May.15.10.
The TP53 tumor suppressor gene plays an important role in cell cycle regulation; polymorphisms of this gene have been associated with endometriosis. We examined the role of TP53 codon 72 polymorphism by comparing genotypes of 235 healthy Mexican women (controls with surgically excluded endometriosis) with the genotypes of 151 Mexican women with endometriosis. The observed genotype frequencies for controls and endometriosis patients were 8 and 22% for proline/proline (Pro/Pro), 30 and 34% for proline/arginine (Pro/Arg), and 62 and 44% for arginine/arginine (Arg/Arg), respectively. We found that odds ratio (OR) = 3.3; 95% confidence intervals (95%CI) = 1.7-6.4; P = 0.0001. The association was also evident in the comparison of the distributions of genotypes Pro/Pro and Pro/Arg in patients with moderate-to-severe endometriosis; OR = 1.9; 95%CI = 0.95-3.9; P = 0.049. We suggest that genotype Pro/Pro of codon 72 polymorphism in TP53 contributes significantly to endometriosis susceptibility in the Mexican population.
TP53肿瘤抑制基因在细胞周期调控中起重要作用；该基因的多态性与子宫内膜异位症有关。我们通过比较235名健康墨西哥女性（经手术排除子宫内膜异位症的对照组）的基因型与151名患有子宫内膜异位症的墨西哥女性的基因型，研究了TP53密码子72多态性的作用。对照组和子宫内膜异位症患者中观察到的基因型频率，脯氨酸/脯氨酸（Pro/Pro）分别为8%和22%，脯氨酸/精氨酸（Pro/Arg）分别为30%和34%，精氨酸/精氨酸（Arg/Arg）分别为62%和44%。我们发现优势比（OR）=3.3；95%置信区间（95%CI）=1.7 - 6.4；P = 0.0001。在中重度子宫内膜异位症患者中，Pro/Pro和Pro/Arg基因型分布的比较中，这种关联也很明显；OR = 1.9；95%CI = 0.95 - 3.9；P = 0.049。我们认为，TP53密码子72多态性的Pro/Pro基因型对墨西哥人群子宫内膜异位症易感性有显著影响。
