墨西哥人群中孕激素受体基因Alu插入多态性与乳腺癌的关联
Association of the Alu insertion polymorphism in the progesterone receptor gene with breast cancer in a Mexican population.
作者信息
Gallegos-Arreola Martha Patricia, Figuera Luis E, Flores-Ramos Liliana Gómez, Puebla-Pérez Ana María, Zúñiga-González Guillermo Moisés
机构信息
Laboratorio de Genética Molecular, División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, México.
División de Genética, CIBO, CMNO, IMSS, Guadalajara, Jalisco, México ; Doctorado en Genética Humana, CUCS-U de G, Guadalajara, Jalisco, México.
出版信息
Arch Med Sci. 2015 Jun 19;11(3):551-60. doi: 10.5114/aoms.2015.52357.
INTRODUCTION
The progesterone receptor (PR) gene plays an important role in reproduction-related events. Data on polymorphisms in the PR gene have revealed associations with cancer, particularly for the Alu insertion polymorphism, which has been suggested to affect progesterone receptor function and contribute to tumor promotion in the mammary gland.
MATERIAL AND METHODS
We examined the role of the Alu insertion polymorphism in the PR gene by comparing the genotypes of 209 healthy Mexican women with those of 481 Mexican women with breast cancer (BC).
RESULTS
The genotype frequencies observed in the controls and BC patients were 0% and 4% for T2/T2 (Alu insertion), 16% and 21% for T1/T2, and 84% and 75% for T1/T1 (Alu deletion), respectively. The obtained odds ratio (OR) was 1.7, with a 95% confidence interval (95% CI) of 1.1-2.6, p = 0.009, for the T1/T2-T2/T2 genotypes. The association was also evident when the distributions of the T1/T2-T2/T2 genotypes in patients in the following categories were compared: obesity grade II (OR = 1.81, 95% CI: 1.03-3.18, p = 0.039) and the chemotherapy response (OR = 1.91, 95% CI: 1.27-3.067, p = 0.002).
CONCLUSIONS
The T1/T2-T2/T2 genotypes of the Alu insertion polymorphism in the PR gene are associated with BC susceptibility in the analyzed Mexican population.
引言
孕酮受体（PR）基因在生殖相关事件中起重要作用。PR基因多态性的数据显示其与癌症有关，特别是Alu插入多态性，有人认为它会影响孕酮受体功能并促进乳腺肿瘤的发生。
材料与方法
我们通过比较209名健康墨西哥女性与481名患有乳腺癌（BC）的墨西哥女性的基因型，研究了PR基因中Alu插入多态性的作用。
结果
在对照组和BC患者中观察到的基因型频率，T2/T2（Alu插入）分别为0%和4%，T1/T2分别为16%和21%，T1/T1（Alu缺失）分别为84%和75%。对于T1/T2 - T2/T2基因型，获得的优势比（OR）为1.7，95%置信区间（95%CI）为1.1 - 2.6，p = 0.009。当比较以下类别患者中T1/T2 - T2/T2基因型的分布时，这种关联也很明显：II级肥胖（OR = 1.81，95%CI：1.03 - 3.18，p = 0.039）和化疗反应（OR = 1.91，95%CI：1.27 - 3.067，p = 0.002）。
结论
在分析的墨西哥人群中，PR基因Alu插入多态性的T1/T2 - T2/T2基因型与BC易感性相关。
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