erbB4 受体多态性 2368A>C 与乳腺癌风险。

ErbB4 receptor polymorphism 2368A>C and risk of breast cancer.

机构信息

Department of Biochemistry, Payam e Noor University, Isfahan, Iran.

Division of Genetics, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, 117545, Singapore.

出版信息

Breast. 2018 Dec;42:157-163. doi: 10.1016/j.breast.2018.10.002. Epub 2018 Oct 9.

DOI:10.1016/j.breast.2018.10.002

PMID:30336339

Abstract

PURPOSE

A number of single nucleotide polymorphisms (SNPs) in EebB4 gene have been studied, which has clarified their impact on breast cancer in different populations. Nevertheless, the importance of rs13423759 in breast cancer has not been studied and its effect remained almost unclear. In this paper, we evaluated the frequency of rs13423759 different alleles in Iranian population and statistically analyzed their association with breast cancer risk.

MATERIALS AND METHODS

Allele-specific Primer PCR (ASP-PCR) was recruited in this study to genotype rs13423759 position in 172 breast cancer and 148 healthy control subjects. The genotypes of control and cases were analyzed statistically to find the association between rs13423759 alleles and breast cancer incidence and its clinicopathological characteristics. In silico studies were performed in order to find the mechanistic viewpoint of rs13423759 alleles in breast cancer.

RESULTS

rs13423759 allele C was shown to be significantly associated with breast cancer risk, HER2 positivity and increased risk of metastasis. Reciprocally, allele A was correlated with the lowered risk of breast cancer. The in silico studies showed that rs13423759 allele C is capable to strengthen the interaction between miR-548as, an oncomiRNA, and ErbB4 mRNA, leading to its lowered concentration in the cells.

CONCLUSION

rs13423759 allele C is significantly associated with the enhanced risk of breast cancer, elevated metastasis and HER2 positivity.

摘要

目的

研究 EebB4 基因中的一些单核苷酸多态性（SNP），阐明它们在不同人群中的乳腺癌影响。然而，rs13423759 在乳腺癌中的重要性尚未得到研究，其作用仍几乎不清楚。在本文中，我们评估了伊朗人群中 rs13423759 不同等位基因的频率，并从统计学上分析了它们与乳腺癌风险的关联。

材料和方法

采用等位基因特异性引物 PCR（ASP-PCR）检测 172 例乳腺癌和 148 例健康对照的 rs13423759 位置的基因型。对对照组和病例组的基因型进行统计学分析，以发现 rs13423759 等位基因与乳腺癌发病及其临床病理特征之间的关联。进行了计算机模拟研究，以寻找 rs13423759 等位基因在乳腺癌中的机制观点。