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载脂蛋白 A1-75G/A 和+83C/T 多态性:在乳腺癌中的易感性和预后意义。

Apolipoprotein A1 -75 G/A and +83 C/T polymorphisms: susceptibility and prognostic implications in breast cancer.

机构信息

Faculté de Médecine de Monastir, Laboratoire d'Immuno-Oncologie Moléculaire, 5019 Monastir, Tunisia.

出版信息

Mol Biol Rep. 2011 Mar;38(3):1637-43. doi: 10.1007/s11033-010-0274-0. Epub 2010 Sep 15.

Abstract

Apolipoprotein A1 (ApoA1) is the major apoprotein constituent of high-density lipoprotein that can play important roles in tumor invasion and metastasis. In the current report, we evaluated the role of the functional ApoA1 polymorphisms (-75 G/A and +83 C/T) as genetic markers for breast cancer susceptibility and prognosis. We used the polymerase chain reaction and restriction enzyme digestion (RFLP-PCR) to characterize the variations of the ApoA1 gene in 295 unrelated Tunisian patients with breast carcinoma and 197 healthy control subjects. No association was found between the +83 C/T genetic variation in ApoA1 gene and the risk of breast cancer occurrence. The presence of the (+83) T allele appeared however to be associated with an increased risk of lymph node metastasis occurrence (OR = 2.94; P = 0.01). Furthermore, a positive association was found between ApoA1 -75 A allele carriers and breast cancer risk (OR = 1.57; P = 0.02). Regarding prognostic indicators, a significant association was found between ApoA1 (-75) A allele carriers and the premenopausal status of breast cancer patients (OR = 1.73; P = 0.03). Additionally, the presence of the -75 A allele was correlated with the oestrogen receptor status among premenopausal women (OR = 2.45; P = 0.02). This is the first report on the studies of ApoA1 single nucleotide polymorphisms (SNPs) in breast carcinomas. Our data suggest that these genetic variations of ApoA1 may represent a marker for the increased risk of breast cancer.

摘要

载脂蛋白 A1(ApoA1)是高密度脂蛋白中的主要载脂蛋白成分,在肿瘤侵袭和转移中发挥重要作用。在本报告中,我们评估了功能性 ApoA1 多态性(-75 G/A 和 +83 C/T)作为乳腺癌易感性和预后遗传标志物的作用。我们使用聚合酶链反应和限制性内切酶消化(RFLP-PCR)技术,对 295 例无关联的突尼斯乳腺癌患者和 197 例健康对照者的 ApoA1 基因变异进行了特征分析。未发现 ApoA1 基因 +83 C/T 遗传变异与乳腺癌发生风险之间存在关联。然而,ApoA1 基因(+83)T 等位基因的存在似乎与淋巴结转移发生风险增加相关(OR = 2.94;P = 0.01)。此外,还发现 ApoA1-75 A 等位基因携带者与乳腺癌风险之间存在正相关(OR = 1.57;P = 0.02)。关于预后指标,发现 ApoA1-75 A 等位基因携带者与乳腺癌患者绝经前状态之间存在显著相关性(OR = 1.73;P = 0.03)。此外,-75 A 等位基因的存在与绝经前妇女的雌激素受体状态相关(OR = 2.45;P = 0.02)。这是关于乳腺癌中 ApoA1 单核苷酸多态性(SNP)研究的首次报告。我们的数据表明,ApoA1 这些遗传变异可能代表乳腺癌风险增加的标志物。

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