Macías-Gómez Nelly M, Peralta-Leal Valeria, Meza-Espinoza Juan Pablo, Gutiérrez-Angulo Melva, Durán-González Jorge, Ramírez-González Juan Manuel, Gaspar-Del Toro Alejandra, Norberto-Rodríguez Adolfo, Leal-Ugarte Evelia
Departamento de Salud y Bienestar del Centro Universitario del Sur, Universidad de Guadalajara, Cd. Guzmán, Jal., Mexico.
Fam Cancer. 2015 Sep;14(3):349-54. doi: 10.1007/s10689-015-9787-y.
The purpose of this case-control study was to evaluate the association of XRCC1 Arg194Trp and Arg399Gln polymorphisms with susceptibility to breast cancer (BC) in a Mexican population. We analysed DNA samples from 345 BC patients and 352 control subjects by polymerase chain reaction-restriction fragment length polymorphism. The frequency of the 399Gln allele was 23% in controls and 29% in patients [OR 1.38 (1.08-1.76); p = 0.01]; genotypes in controls were 60, 36, and 4% for Arg/Arg, Arg/Gln, and Gln/Gln, respectively, while in patients they were 53, 36, and 11% [OR 2.71 (1.44-5.10); p = 0.0015 for the Gln/Gln genotype]. Regarding the Arg194Trp polymorphism, the frequency of Trp allele was 15% in controls and 16% in patients [OR 1.09 (0.82-1.46); p = 0.54]; the genotype frequencies in controls were 74, 23, and 3% for Arg/Arg, Arg/Trp and Trp/Trp, respectively, while in patients these were 73, 23, and 4% [OR 1.41 (0.64-3.14); p = 0.39 for the Trp/Trp genotype]. Allele frequencies were consistent with Hardy-Weinberg equilibrium (p = 0.20 for Arg194Trp and p = 0.54 for Arg399Gln). Our results indicate that the 399Gln polymorphism is associated with an increased risk of BC. Additionally, we found that some covariates increase the risk of BC in Mexican women; namely, antecedent of abortions [OR 3.69 (2.17-6.27); p < 0.001], not breastfeeding [OR 2.46 (1.45-4.18); p = 0.001], family history of BC [OR 15.9 (5.09-50.23); p < 0.001], other type of family cancer [OR 31.5 (12.5-79.3); p < 0.001], alcoholism [OR 17.7 (5.2-60.42); p < 0.001], type 2 diabetes mellitus [OR 2.28 (1.26-4.10); p = 0.007], and contraceptive use [OR 2.28 (1.26-4.10); p < 0.001].
本病例对照研究的目的是评估墨西哥人群中XRCC1基因的Arg194Trp和Arg399Gln多态性与乳腺癌（BC）易感性之间的关联。我们采用聚合酶链反应-限制性片段长度多态性方法，分析了345例BC患者和352例对照者的DNA样本。399Gln等位基因在对照组中的频率为23%，在患者组中的频率为29% [比值比（OR）为1.38（1.08 - 1.76）；p = 0.01]；对照组中Arg/Arg、Arg/Gln和Gln/Gln基因型的频率分别为60%、36%和4%，而患者组中分别为53%、36%和11% [Gln/Gln基因型的OR为2.71（1.44 - 5.10）；p = 0.0015]。关于Arg194Trp多态性，Trp等位基因在对照组中的频率为15%，在患者组中的频率为16% [OR为1.09（0.82 - 1.46）；p = 0.54]；对照组中Arg/Arg、Arg/Trp和Trp/Trp基因型的频率分别为74%、23%和3%，而患者组中分别为73%、23%和4% [Trp/Trp基因型的OR为1.41（0.64 - 3.14）；p = 0.39]。等位基因频率符合哈迪-温伯格平衡（Arg194Trp的p = 0.20，Arg399Gln的p = 0.54）。我们的结果表明，399Gln多态性与BC风险增加相关。此外，我们发现一些协变量会增加墨西哥女性患BC的风险，即流产史 [OR为3.69（2.17 - 6.27）；p < 0.001]、未母乳喂养 [OR为2.46（1.45 - 4.18）；p = 0.001]、BC家族史 [OR为15.9（5.09 - 50.23）；p < 0.001]、其他类型的家族癌症 [OR为31.5（12.5 - 79.3）；p < 0.001]、酗酒 [OR为17.7（5.2 - 60.42）；p < 0.001]、2型糖尿病 [OR为2.28（1.26 - 4.10）；p = 0.007]以及使用避孕药具 [OR为2.28（1.26 - 4.10）；p < 0.001]。
