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埃及女性样本中SPARC基因多态性rs3210714和rs7719521与VEGF表达的关联以及诺丁汉预后指数评分在乳腺癌中的应用

Association of SPARC gene polymorphisms rs3210714 and rs7719521 with VEGF expression and utility of Nottingham Prognostic Index scoring in breast cancer in a sample of Egyptian women.

作者信息

Bawazeer Sultan, Sabry Dina, Mahmoud Rania H, Elhanbuli Hala M, Yassen Noha N, Abdelhafez Marwa N

机构信息

Umm Al-Qura University, Mecca, Saudi Arabia.

Asklepios Hospital, Hamburg University, Hamburg, Germany.

出版信息

Mol Biol Rep. 2018 Dec;45(6):2313-2324. doi: 10.1007/s11033-018-4394-2. Epub 2018 Sep 27.

Abstract

Breast cancer is the most common malignancy in women. To our knowledge, there is no single study conducted on the role of secreted protein acidic and rich in cysteine (SPARC) gene polymorphism in breast cancer risk or prognosis. The present study aims to investigate the probable role of SPARC genetic polymorphisms in development of breast cancer; their correlation with immunohistochemical expression of VEGF; and their association with breast cancer prognosis in the Egyptian population. The study sample included 238 Egyptian females who were divided into two groups: breast cancer group (118 patients) and healthy control group (120 subjects). SPARC gene single nucleotide polymorphisms rs3210714 and rs7719521 were genotyped. Allelic and genotypic frequencies were determined in both groups and association with ductal breast carcinoma, clinicopathological and prognostic characters were determined. For SPARC rs3210714, a significant difference was observed in the codominant model and both A and G alleles' frequencies between breast cancer patients and control group (P < 0.001). For rs7719521, a significant difference in codominant and dominant models as well as in both A and C alleles' frequencies between breast cancer and control groups (P < 0.001) was observed. A significant relation was found between SPARC rs3210714 and rs7719521, and immunohistochemical expression of VEGF (P = 0.046 and P = 0.027, respectively). SPARC rs7719521 showed a significant association with Nottingham Prognostic Index (NPI) (P = 0.032). The present study revealed that SPARC rs3210714 and rs7719521 polymorphisms are associated with breast cancer risk and its prognosis. Therefore, these SNPs may be useful in predicting the increased risk of breast cancer.

摘要

乳腺癌是女性中最常见的恶性肿瘤。据我们所知,尚无关于富含半胱氨酸的酸性分泌蛋白(SPARC)基因多态性在乳腺癌风险或预后中的作用的单项研究。本研究旨在探讨SPARC基因多态性在乳腺癌发生中的可能作用;它们与血管内皮生长因子(VEGF)免疫组化表达的相关性;以及它们与埃及人群乳腺癌预后的关联。研究样本包括238名埃及女性,分为两组:乳腺癌组(118例患者)和健康对照组(120名受试者)。对SPARC基因单核苷酸多态性rs3210714和rs7719521进行基因分型。确定两组的等位基因和基因型频率,并确定与乳腺导管癌、临床病理特征和预后特征的关联。对于SPARC rs3210714,在共显性模型以及乳腺癌患者与对照组之间的A和G等位基因频率上均观察到显著差异(P < 0.001)。对于rs7719521,在共显性和显性模型以及乳腺癌组与对照组之间的A和C等位基因频率上均观察到显著差异(P < 0.001)。发现SPARC rs3210714和rs7719521与VEGF的免疫组化表达之间存在显著关系(分别为P = 0.046和P = 0.027)。SPARC rs7719521与诺丁汉预后指数(NPI)显示出显著关联(P = 0.032)。本研究表明,SPARC rs3210714和rs7719521多态性与乳腺癌风险及其预后相关。因此,这些单核苷酸多态性可能有助于预测乳腺癌风险的增加。

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