Cibeira Gabriela Herrmann, Giacomazzi Juliana, Aguiar Ernestina, Schneider Silvana, Ettrich Betina, DE Souza Caroline Isoppo, Camey Suzi, Caleffi Maira, Weber Bernardete, Ashton-Prolla Patricia, Moriguchi Emilio Hideyuki
Post-Graduate Program in Health Sciences, Cardiology and Cardiovascular Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.
Post-Graduate Program in Genetics and Molecular Biology, HCPA/UFRGS, Porto Alegre, Brazil ; Laboratory of Genomic Medicine, Experimental Research Center/Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Mol Clin Oncol. 2014 Nov;2(6):1009-1015. doi: 10.3892/mco.2014.369. Epub 2014 Aug 1.
The purpose of this study was to evaluate the association between apolipoprotein E (APOE) allelic frequency, serum lipoproteins and breast cancer (BC). We conducted a nested case-control study within a cohort including 47 cases and 165 controls. Polymerase chain reaction-restriction fragment length polymorphism analyses of the APOE polymorphism were performed. In general, participants with the genotype including alleles e2 and e3 tended to have lower serum triglycerides, total cholesterol and low-density lipoprotein cholesterol levels and higher high-density lipoprotein (HDL) cholesterol levels compared to participants homozygous for the e3 allele and participants heterozygous for the e3 and e4 alleles, respectively. BC patients exhibited higher mean levels of total serum cholesterol (P=0.070), dietary fat intake (P=0.020) and dietary cholesterol intake (P=0.017) compared to control subjects. The allelic distribution between the two groups revealed that the presence of the e2 allele was positively associated with the absence of BC, whereas the e4 allele was positively associated with the BC case group (P=0.019). The distribution of the APOE genotypes was not significantly different between cases and controls (P=0.172). The concomitant presence of the e2 and e4 alleles was positively associated with the absence of BC and e4/e4 homozygosity was positively associated with BC (P=0.021). Our findings suggested that APOE polymorphism plays an important role in the development of BC, particularly when associated with higher serum triglyceride levels.
本研究的目的是评估载脂蛋白E(APOE)等位基因频率、血清脂蛋白与乳腺癌(BC)之间的关联。我们在一个队列中进行了一项巢式病例对照研究,该队列包括47例病例和165例对照。对APOE多态性进行了聚合酶链反应-限制性片段长度多态性分析。总体而言,与分别为e3等位基因纯合子以及e3和e4等位基因杂合子的参与者相比,具有包括e2和e3等位基因的基因型的参与者往往具有较低的血清甘油三酯、总胆固醇和低密度脂蛋白胆固醇水平,以及较高的高密度脂蛋白(HDL)胆固醇水平。与对照受试者相比,BC患者的血清总胆固醇平均水平(P = 0.070)、膳食脂肪摄入量(P = 0.020)和膳食胆固醇摄入量(P = 0.017)更高。两组之间的等位基因分布显示,e2等位基因的存在与BC的不存在呈正相关,而e4等位基因与BC病例组呈正相关(P = 0.019)。病例组和对照组之间APOE基因型的分布没有显著差异(P = 0.172)。e2和e4等位基因的同时存在与BC的不存在呈正相关,e4/e4纯合性与BC呈正相关(P = 0.021)。我们的研究结果表明,APOE多态性在BC的发生发展中起重要作用,特别是与较高的血清甘油三酯水平相关时。