伊朗东北部女性启动子区功能多态性与乳腺癌之间不存在关联。

Lack of an Association between a Functional Polymorphism in the Promoter and Breast Cancer in Women in Northeast Iran.

作者信息

Tavakkol Afshari Zeinab, Nikpoor Amin Reza, Tavakkol Afshari Jalil, Ganjali Rashin, Sanglakh Ghoochan Atigh Parvaneh, Homaei Shandiz Fatemeh, Jamialahmadi Khadijeh

机构信息

Immunogenetic and Cell Culture Department, Immunology Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Department of Allergy and Immunology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Rep Biochem Mol Biol. 2017 Oct;6(1):112-117.

PMID:29090237

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5643450/

Abstract

BACKGROUND

Breast cancer is one of the most common cancers among women worldwide. Tumor protein 53 (TP53) and its regulator, the mouse double murine 2 (MDM2) protein homologue, influence tumorigenesis through their key roles in cell division and response to DNA damage. The SNP309T>G (rs2279744) polymorphism in the promoter region of the MDM2 can cause dysfunction and inactivation of TP53, which promotes tumor progression. The aim of this study was to investigate the possible association between this polymorphism and breast cancer in a northeastern Iranian population.

METHODS

A case-control study with 128 female breast cancer patients and 143 healthy women was conducted. PCR-ARMS was performed to assess the SNP309T>G (rs2279744) polymorphism.

RESULTS

No significant association was found between the GG genotype or G allele polymorphisms and breast cancer in patients or controls (p = 0.116, OR [95% CI]: 1.267 [0.616, 2.603] and p= 0.143, OR [95% CI]: 1.326 [0.908, 1.935], respectively). For the G allele polymorphism, a significant difference of 8 years in the average cancer diagnosis age was observed between TT and TG carriers (40.57 vs. 48.15 years, respectively, p = 0.029).

CONCLUSION

The SNP309T>G polymorphism in may not be associated with breast cancer in this Iranian population.

摘要

背景

乳腺癌是全球女性中最常见的癌症之一。肿瘤蛋白53（TP53）及其调节因子小鼠双微体2（MDM2）蛋白同源物，通过在细胞分裂和DNA损伤应答中的关键作用影响肿瘤发生。MDM2启动子区域的SNP309T>G（rs2279744）多态性可导致TP53功能障碍和失活，从而促进肿瘤进展。本研究旨在调查伊朗东北部人群中这种多态性与乳腺癌之间的可能关联。

方法

进行了一项病例对照研究，纳入128例女性乳腺癌患者和143名健康女性。采用聚合酶链反应-扩增阻滞突变系统（PCR-ARMS）评估SNP309T>G（rs2279744）多态性。

结果

在患者或对照中，未发现GG基因型或G等位基因多态性与乳腺癌之间存在显著关联（p = 0.116，比值比[95%置信区间]：1.267[0.616，2.603]；p = 0.143，比值比[95%置信区间]：1.326[0.908，1.935]）。对于G等位基因多态性，TT和TG携带者之间的平均癌症诊断年龄存在8年的显著差异（分别为40.57岁和48.15岁，p = 0.029）。