Hospital Universitario Virgen de las Nieves, Instituto de Investigación Biosanitaria de Granada, Complejo Hospitalario Universitario de Granada, Avda. Fuerzas Armadas, 2, 18071 Granada, Spain.
Hospital Universitario Virgen de las Nieves, Instituto de Investigación Biosanitaria de Granada, Complejo Hospitalario Universitario de Granada, Avda. Fuerzas Armadas, 2, 18071 Granada, Spain; Department of Biochemistry, Faculty of Pharmacy, University of Granada Campus Universitario de Cartuja, s/n, 18071 Granada, Spain.
Pathol Res Pract. 2020 Apr;216(4):152860. doi: 10.1016/j.prp.2020.152860. Epub 2020 Feb 13.
Breast cancer (BC) is the most common cause of cancer-related death in women worldwide. Several ABCB1 and VEGFA gene polymorphisms, such as ABCB1-G1199 T/A (rs2229109), VEGFA -634 G > C (rs2010963), VEGFA 2578 C > A (rs699947) and VEGFA 7 C > T (rs25648) have been associated with risk of BC and clinical outcomes. The purpose of this study was to evaluate the association between these gene polymorphisms and BC risk and prognosis. A retrospective case-control study was conducted, including 84 BC cases and 119 controls of Spanish (European, Caucasian) origin. ABCB1-G1199 T/A (rs2229109), VEGFA -634 G > C (rs2010963), VEGFA 2578 C > A (rs699947) and VEGFA 7 C > T (rs25648) gene polymorphisms were analysed by TaqMan®. The genotypic logistic regression model adjusted by aged revealed no association with any of the polymorphisms and BC risk, although the C-allele of VEGFA 2578 C > A showed a trend to higher BC risk in the allelic and recessive models (p = 0.055 and 0.054, respectively). There was no influence of these gene polymorphisms on overall survival (OS). The univariate Cox model showed that carriers of the A-allele for VEGFA 2578 C > A tended to have longer OS compared to CC patients (CC vs A-allele Hazard ratio (HR): 2.08; CI95 % = 0.96-4.49; p = 0.0587). There was no association between the gene polymorphisms analysed and disease-free survival (DFS). The univariate Cox model showed a trend toward a longer DFS in patients carrying ABCB1-G1199 T/A GG genotype compared to those with A-allele (GG vs A-allele HR: 0.43; CI95 % = 0.18-1.03; p = 0.0612). No influence of ABCB1-G1199 T/A (rs2229109), VEGFA -634 G > C (rs2010963), VEGFA 2578 C > A (rs699947) and VEGFA 7 C > T (rs25648) gene polymorphisms on risk of developing BC was found in our study. There was no association between the polymorphisms studied and DFS and OS.
乳腺癌(BC)是全球女性癌症相关死亡的最常见原因。几种 ABCB1 和 VEGFA 基因多态性,如 ABCB1-G1199T/A(rs2229109)、VEGFA-634G>C(rs2010963)、VEGFA2578C>A(rs699947)和 VEGFA7C>T(rs25648),与 BC 风险和临床结局相关。本研究旨在评估这些基因多态性与 BC 风险和预后的关系。进行了一项回顾性病例对照研究,包括 84 例 BC 病例和 119 例西班牙(欧洲白种人)来源的对照。通过 TaqMan®分析 ABCB1-G1199T/A(rs2229109)、VEGFA-634G>C(rs2010963)、VEGFA2578C>A(rs699947)和 VEGFA7C>T(rs25648)基因多态性。经年龄调整的基因座逻辑回归模型显示,这些多态性与 BC 风险均无关联,但 VEGFA2578C>A 的 C 等位基因在等位基因和隐性模型中显示出较高的 BC 风险趋势(p=0.055 和 0.054)。这些基因多态性对总生存(OS)没有影响。单变量 Cox 模型显示,与 CC 患者相比,VEGFA2578C>A 的 A 等位基因携带者的 OS 更长(CC 与 A-等位基因 HR:2.08;95%CI:0.96-4.49;p=0.0587)。分析的基因多态性与无病生存(DFS)之间没有关联。单变量 Cox 模型显示,与携带 A-等位基因的患者相比,携带 ABCB1-G1199T/A GG 基因型的患者 DFS 趋势更长(GG 与 A-等位基因 HR:0.43;95%CI:0.18-1.03;p=0.0612)。在我们的研究中,没有发现 ABCB1-G1199T/A(rs2229109)、VEGFA-634G>C(rs2010963)、VEGFA2578C>A(rs699947)和 VEGFA7C>T(rs25648)基因多态性与 BC 发病风险之间存在关联。研究多态性与 DFS 和 OS 之间没有关联。