Department of Physiological Nursing, University of California San Francisco, San Francisco, California, United States of America.
PLoS One. 2013 Apr 16;8(4):e60164. doi: 10.1371/journal.pone.0060164. Print 2013.
The purposes of this study were to evaluate for differences in phenotypic and genotypic characteristics in women who did and did not develop lymphedema (LE) following breast cancer treatment. Breast cancer patients completed a number of self-report questionnaires. LE was evaluated using bioimpedance spectroscopy. Genotyping was done using a custom genotyping array. No differences were found between patients with (n = 155) and without LE (n = 387) for the majority of the demographic and clinical characteristics. Patients with LE had a significantly higher body mass index, more advanced disease and a higher number of lymph nodes removed. Genetic associations were identified for four genes (i.e., lymphocyte cytosolic protein 2 (rs315721), neuropilin-2 (rs849530), protein tyrosine kinase (rs158689), vascular cell adhesion molecule 1 (rs3176861)) and three haplotypes (i.e., Forkhead box protein C2 (haplotype A03), neuropilin-2 (haplotype F03), vascular endothelial growth factor-C (haplotype B03)) involved in lymphangiogensis and angiogenesis. These genetic associations suggest a role for a number of lymphatic and angiogenic genes in the development of LE following breast cancer treatment.
本研究旨在评估乳腺癌治疗后发生和未发生淋巴水肿（LE）的女性在表型和基因型特征方面的差异。乳腺癌患者完成了多项自我报告问卷。使用生物阻抗光谱法评估 LE。使用定制的基因分型阵列进行基因分型。在大多数人口统计学和临床特征方面，患有 LE 的患者（n=155）和没有 LE 的患者（n=387）之间没有发现差异。患有 LE 的患者的体重指数明显更高，疾病更晚期，切除的淋巴结数量更多。鉴定了四个基因（即淋巴细胞胞质蛋白 2（rs315721）、神经钙黏蛋白 2（rs849530）、蛋白酪氨酸激酶（rs158689）、血管细胞黏附分子 1（rs3176861））和三个参与淋巴管生成和血管生成的单倍型（即叉头框蛋白 C2（单倍型 A03）、神经钙黏蛋白 2（单倍型 F03）、血管内皮生长因子-C（单倍型 B03））与 LE 发展相关的基因。这些遗传关联表明，许多淋巴管生成和血管生成基因在乳腺癌治疗后 LE 的发展中起作用。
