Acosta Karina Beatriz, Lorenzini Campos Melina Noelia, Etcheverry Susana Beatriz, Zapata Pedro Dario
Instituto de Biotecnología Misiones "Dra. Maria EbeReca" (InBioMis), Facultad de Ciencias Exactas, Químicas y Naturales, Universidad Nacional de Misiones, Ruta Nacional Nº12 km 7 ½, Posadas 3300, Argentina.
Cátedra de Bioquímica Patológica, Facultad de Ciencias Exactas, Universidad Nacional de La Plata, 47 y 115, La Plata 1900, Argentina.
Int J Mol Sci. 2016 Oct 18;17(10):1540. doi: 10.3390/ijms17101540.
The α6β4 integrin is composed of the α6 and β4 subunits that are encoded by the and the genes, respectively. The α6β4 main function is to intervene in lamination and epithelia integrity maintenance by cell-matrix interactions. This integrin appears to have importance in breast cancer malignancy, as well as other epithelial carcinomas. The aim of this work was to investigate the potential role of (A380T) and (R1281W) genetic variations in breast cancer susceptibility, in a female population from the northeast region of Argentina (Misiones). We performed a case-control study of 85 breast cancer patients and 113 cancer-free controls. Genotyping was performed by RFLP-PCR. For (A380T) single nucleotide polymorphism, a high frequency of heterozygous genotype GA in cases compared to controls was observed, achieving values of 48% and 49%, respectively. No association between the A380T SNP and breast cancer development was found (Odds Ratio = 0.92; 95% Confidence Interval = 0.52-1.63; = 0.884). In conclusion, we did not find evidence of an association between A380T () and the risk of developing breast cancer. The results represent the first report of these genetic variations in breast cancer; therefore, they are an important contribution to the literature.
α6β4整合素由α6和β4亚基组成，它们分别由 和 基因编码。α6β4的主要功能是通过细胞与基质的相互作用参与分层和上皮完整性的维持。这种整合素在乳腺癌以及其他上皮癌的恶性发展中似乎具有重要作用。本研究的目的是在阿根廷东北部地区（米西奥内斯省）的女性人群中，调查 （A380T）和 （R1281W）基因变异在乳腺癌易感性中的潜在作用。我们对85例乳腺癌患者和113例无癌对照进行了病例对照研究。通过限制性片段长度多态性聚合酶链反应（RFLP-PCR）进行基因分型。对于 （A380T）单核苷酸多态性，与对照组相比，病例组中杂合基因型GA的频率较高，分别达到48%和49%。未发现A380T单核苷酸多态性与乳腺癌发生之间存在关联（优势比 = 0.92；95%置信区间 = 0.52 - 1.63；P = 0.884）。总之，我们没有发现A380T（ ）与患乳腺癌风险之间存在关联的证据。这些结果是关于乳腺癌中这些基因变异的首次报道；因此，它们对文献做出了重要贡献。
